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
KDM7A	80853	broad.mit.edu	37	7	139833402	139833402	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:139833402G>A	ENST00000397560.2	-	3	432	c.335C>T	c.(334-336)tCc>tTc	p.S112F	JHDM1D_ENST00000006967.5_Missense_Mutation_p.S112F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		112	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S112F(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACTGGTTTGGAACCATCATC	0.353000													18	57					0	0	0.004990	0	0
OR2M7	391196	broad.mit.edu	37	1	248487472	248487472	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248487472G>T	ENST00000317965.2	-	1	427	c.399C>A	c.(397-399)acC>acA	p.T133T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T133T(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TCATGAGATTGGTGTATCTTA	0.428000													64	271					8.3131e-28	1.44244e-27	0.003610	1	0
TRBV6-5	28602	broad.mit.edu	37	7	142180926	142180926	+	RNA	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142180926C>T	ENST00000390368.2	-	0	90																											GACAAGGCTGCACAGCACAGG	0.577000													10	38					0	0	0.001368	0	0
APMAP	57136	broad.mit.edu	37	20	24959487	24959487	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:24959487G>C	ENST00000217456.2	-	3	534	c.244C>G	c.(244-246)Ctg>Gtg	p.L82V	APMAP_ENST00000447138.1_Missense_Mutation_p.L82V	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L82V(1)									TTTGGATGCAGAACACCAAGC	0.448000													7	101					0	0	0.003080	0	0
LDB2	9079	broad.mit.edu	37	4	16513703	16513703	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:16513703G>T	ENST00000502640.1	-	6	788	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	LDB2_ENST00000304523.5_Missense_Mutation_p.Q214K|LDB2_ENST00000441778.2_Missense_Mutation_p.Q214K|LDB2_ENST00000503178.2_Missense_Mutation_p.Q90K|LDB2_ENST00000515064.1_Missense_Mutation_p.Q214K|RP11-446J8.1_ENST00000512370.1_RNA			O43679	LDB2_HUMAN	LIM domain binding 2	214							LIM domain binding|transcription cofactor activity	p.Q214K(2)|p.Q214E(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCAGTTCCTGCATTGGCTCC	0.438000													9	32					1.76689e-08	2.39313e-08	0.006214	1	0
APBA1	320	broad.mit.edu	37	9	72071250	72071250	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:72071250G>T	ENST00000265381.4	-	8	1923	c.1701C>A	c.(1699-1701)aaC>aaA	p.N567K	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	567	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.N567K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTCCTGGGAGTTGGAGCGAG	0.557000													16	239					0.000308642	0.00035352	0.003163	1	0
PPM1D	8493	broad.mit.edu	37	17	58725327	58725327	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:58725327C>A	ENST00000305921.3	+	4	1133	c.901C>A	c.(901-903)Ctt>Att	p.L301I		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	301	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.L301I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGTCCACACTCTTGACCCTCA	0.458000													16	61					0.00074312	0.000839935	0.006122	1	0
ESYT2	57488	broad.mit.edu	37	7	158552764	158552764	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:158552764C>G	ENST00000251527.5	-	12	1517	c.1452G>C	c.(1450-1452)gcG>gcC	p.A484A		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	512						integral to membrane|plasma membrane		p.A484A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CGAGGTTTGACGCATTTGGCA	0.458000													7	117					0	0	0.004482	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74664034	74664034	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:74664034C>G	ENST00000370895.1	+	1	107	c.72C>G	c.(70-72)tcC>tcG	p.S24S	FPGT_ENST00000482102.2_Silent_p.S24S|TNNI3K_ENST00000370893.1_Silent_p.S24S|FPGT_ENST00000370894.4_Silent_p.S24S|FPGT_ENST00000534056.1_Silent_p.S24S|FPGT_ENST00000467578.2_Silent_p.S24S|FPGT_ENST00000370898.2_Silent_p.S24S|FPGT_ENST00000524915.1_Silent_p.S24S|FPGT-TNNI3K_ENST00000557284.1_Silent_p.S24S|TNNI3K_ENST00000370891.2_Silent_p.S24S|FPGT-TNNI3K_ENST00000370899.3_Silent_p.S24S			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.E25K(1)									GGAGGTTTTCCGAGCTAAGAG	0.597000													4	26					0	0	0.000602	0	0
GABRB3	2562	broad.mit.edu	37	15	26812859	26812859	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:26812859A>T	ENST00000541819.2	-	8	974	c.872T>A	c.(871-873)cTg>cAg	p.L291Q	GABRB3_ENST00000311550.5_Missense_Mutation_p.L235Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.L150Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.L235Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.L164Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	235					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L235Q(2)|p.L291Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCGAAAGCTCAGTGACAGTCG	0.428000													4	29					0	0	0.000602	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220517	146220517	+	RNA	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:146220517T>C	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						CTGCTGGCCATATTTTCTACT	0.468000													5	31					0	0	0.000602	0	0
TSPAN2	10100	broad.mit.edu	37	1	115603136	115603136	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:115603136T>C	ENST00000369516.2	-	4	325	c.294A>G	c.(292-294)atA>atG	p.I98M	TSPAN2_ENST00000369515.2_Intron|TSPAN2_ENST00000369514.2_Missense_Mutation_p.I98M	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	98						integral to membrane		p.I98M(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CAGCAGCAAATATCACCAGGA	0.308000													7	61					0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75037410	75037410	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:75037410C>T	ENST00000326665.5	-	14	4202	c.3984G>A	c.(3982-3984)aaG>aaA	p.K1328K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1328	Glu-rich.							p.K1328K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCCCTCATTCTTTTGTGTGT	0.557000													7	77					0	0	0.003080	0	0
PAK3	5063	broad.mit.edu	37	X	110459751	110459751	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:110459751G>A	ENST00000519681.1	+	18	2015	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PAK3_ENST00000360648.4_Missense_Mutation_p.V540M|PAK3_ENST00000372007.4_Missense_Mutation_p.V504M|PAK3_ENST00000417227.1_Missense_Mutation_p.V525M|PAK3_ENST00000425146.1_Missense_Mutation_p.V504M|PAK3_ENST00000372010.1_Missense_Mutation_p.V519M|PAK3_ENST00000446737.1_Missense_Mutation_p.V504M|PAK3_ENST00000518291.1_Missense_Mutation_p.V540M|PAK3_ENST00000262836.4_Missense_Mutation_p.V519M			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	519	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.V504M(1)|p.V540M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGAGATGGATGTGGATAGGCG	0.423000										TSP Lung(19;0.15)			14	79					0	0	0.001855	0	0
CCDC147	159686	broad.mit.edu	37	10	106209931	106209931	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:106209931C>A	ENST00000369704.3	+	17	2613	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	827								p.L827I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAGAAATACCTCGCTCAGAA	0.318000													24	87					3.83957e-06	4.81917e-06	0.002780	1	0
SRSF5	6430	broad.mit.edu	37	14	70238119	70238119	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:70238119G>T	ENST00000553521.1	+	9	2213	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.V251L|SRSF5_ENST00000394366.2_Missense_Mutation_p.V254L|SRSF5_ENST00000557154.1_Missense_Mutation_p.V254L			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	254	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	p.V254L(1)		large_intestine(1)|liver(1)	2						TCCAGCATCTGTGGATCGCCA	0.507000													36	196					9.9191e-30	1.73281e-29	0.008740	1	0
DNAH9	1770	broad.mit.edu	37	17	11597192	11597192	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:11597192A>T	ENST00000262442.3	+	21	4690	c.4622A>T	c.(4621-4623)aAa>aTa	p.K1541I	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1541I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1541	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1541I(1)		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)		CAGGATTCTAAAAGGTTTGAA	0.428000													24	54					0	0	0.005443	0	0
SPAG17	200162	broad.mit.edu	37	1	118583391	118583391	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:118583391C>T	ENST00000336338.5	-	22	3193	c.3128G>A	c.(3127-3129)gGg>gAg	p.G1043E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1043						cilium|flagellar axoneme|microtubule		p.G1043E(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATCTGCCCCCCATCAGAAGG	0.358000													14	48					0	0	0.004007	0	0
UBR1	197131	broad.mit.edu	37	15	43252861	43252861	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:43252861T>A	ENST00000290650.4	-	43	4817	c.4739A>T	c.(4738-4740)cAa>cTa	p.Q1580L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1580					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.Q1580L(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GGTGTTTTTTTGCTTCAAACA	0.393000													5	23					0	0	0.001984	0	0
TTF1	7270	broad.mit.edu	37	9	135277293	135277293	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:135277293C>G	ENST00000334270.2	-	2	955	c.916G>C	c.(916-918)Gat>Cat	p.D306H		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	306					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.D306H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTGCATATCAGCCCCAACC	0.438000													6	139					0	0	0.003080	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	55					0	0	0.000602	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299958	15299958	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:15299958C>A	ENST00000263388.2	-	8	1295	c.1220G>T	c.(1219-1221)aGg>aTg	p.R407M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	407	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R407M(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTTCACGCACCTGCCCAAGTG	0.672000													18	38					1.33834e-09	1.87601e-09	0.007413	1	0
KCNK10	54207	broad.mit.edu	37	14	88737097	88737097	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:88737097A>T	ENST00000312350.5	-	1	158	c.37T>A	c.(37-39)Tgt>Agt	p.C13S	KCNK10_ENST00000340700.5_Intron|KCNK10_ENST00000319231.5_Intron	NM_138318.2	NP_612191.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.C13S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						tcactgcgacagccttcagtc	0.522000													32	201					0	0	0.004878	0	0
ZNF675	171392	broad.mit.edu	37	19	23836222	23836222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:23836222C>A	ENST00000359788.4	-	4	1681	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	505					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.E505*(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGGGTTTCTCCCCAGTATGA	0.373000													24	41					9.57634e-11	1.38469e-10	0.003330	1	0
ITGAM	3684	broad.mit.edu	37	16	31341697	31341697	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:31341697C>G	ENST00000544665.3	+	27	3203	c.3132C>G	c.(3130-3132)ttC>ttG	p.F1044L	ITGAM_ENST00000287497.8_Missense_Mutation_p.F1043L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1043					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.F1043L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGAAGAATTCAATGCTACCC	0.582000													27	47					0	0	0.009535	0	0
OR6C76	390326	broad.mit.edu	37	12	55820153	55820153	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:55820153G>A	ENST00000328314.3	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G39E(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTGTTACTGGAAATCTAACT	0.423000													7	78					0	0	0.001984	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406600	37406600	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:37406600C>A	ENST00000535679.1	-	4	529		c.e4+1		SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000407963.1_Splice_Site|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm	sulfotransferase activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AACAGCCATACCTTGTCCTTT	0.378000													10	80					2.27111e-07	2.97562e-07	0.001368	1	0
CALHM2	51063	broad.mit.edu	37	10	105209385	105209385	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:105209385G>C	ENST00000393235.1	-	3	1511	c.314C>G	c.(313-315)tCc>tGc	p.S105C	CALHM2_ENST00000369788.3_Missense_Mutation_p.S105C|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Missense_Mutation_p.S105C			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	105						integral to membrane		p.S105C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						TCCCAGGATGGAGCTTAGAAG	0.617000													22	67					0	0	0.003954	0	0
RPAP3	79657	broad.mit.edu	37	12	48091454	48091454	+	Missense_Mutation	SNP	G	G	C	rs151225713	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:48091454G>C	ENST00000005386.3	-	4	458	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V	RPAP3_ENST00000432584.3_5'UTR|RPAP3_ENST00000380650.4_Missense_Mutation_p.L115V	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	115							binding	p.L115V(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCTTGAGACAGAGACTCATGG	0.353000													19	93					0	0	0.010504	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475819	74475819	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:74475819G>A	ENST00000591885.1	-	4	818	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	RHBDF2_ENST00000592378.1_Intron|RHBDF2_ENST00000389760.4_Missense_Mutation_p.R90C|RHBDF2_ENST00000313080.4_Missense_Mutation_p.R119C			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	119					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R119C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTCACTTGCGGATGCTCTGG	0.662000													6	37					0	0	0.003080	0	0
TRAV24	28659	broad.mit.edu	37	14	22573927	22573927	+	RNA	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:22573927C>G	ENST00000390453.1	+	0	147																											GCTTCCCTTCCAGCAATTTTT	0.458000													2	9					0	0	0.004672	0	0
ALS2CL	259173	broad.mit.edu	37	3	46716186	46716186	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:46716186T>A	ENST00000318962.4	-	21	2382	c.2299A>T	c.(2299-2301)Agc>Tgc	p.S767C	ALS2CL_ENST00000383742.3_Missense_Mutation_p.S114C|ALS2CL_ENST00000415953.1_Missense_Mutation_p.S767C	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	767					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	p.S767C(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGTAGAAGCTGGGCAGCATG	0.567000													11	29					0	0	0.000978	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424334	117424334	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:117424334A>T	ENST00000160373.3	-	5	2334	c.2243T>A	c.(2242-2244)tTg>tAg	p.L748*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	748								p.L748*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCAGAATACAAGGCAGAATG	0.413000													31	187					0	0	0.002445	0	0
SLC39A14	23516	broad.mit.edu	37	8	22272314	22272314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:22272314G>T	ENST00000359741.5	+	5	824	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	SLC39A14_ENST00000240095.6_Nonsense_Mutation_p.E217*|SLC39A14_ENST00000289952.5_Nonsense_Mutation_p.E217*|SLC39A14_ENST00000381237.1_Nonsense_Mutation_p.E217*	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	217						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	p.E217*(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CAACCCTCTGGAAGATTATTA	0.368000													23	96					3.28513e-13	5.02754e-13	0.003954	1	0
FAM71F1	84691	broad.mit.edu	37	7	128363286	128363286	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:128363286C>T	ENST00000315184.5	+	4	776	c.723C>T	c.(721-723)agC>agT	p.S241S	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.S142S	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	241								p.S241S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCCAGCCCAGCGAGAGTCTCA	0.453000													8	200					0	0	0.003080	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208874	1208874	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:1208874C>T	ENST00000304460.10	+	2	272	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	72					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.I72I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTTCATGATCCCGTTCCTCA	0.657000													40	69					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113564886	113564886	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:113564886A>T	ENST00000297405.5	-	26	4542	c.4298T>A	c.(4297-4299)tTt>tAt	p.F1433Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.F1393Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1433Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1329Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1433	CUB 8.					integral to membrane|plasma membrane		p.F1393Y(1)|p.F1433Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCATATGGAAAAGGATAGCC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	54					0	0	0.003163	0	0
SIM1	6492	broad.mit.edu	37	6	100841699	100841699	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:100841699T>G	ENST00000369208.3	-	11	2016	c.1234A>C	c.(1234-1236)Acc>Ccc	p.T412P	SIM1_ENST00000262901.4_Missense_Mutation_p.T412P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	412	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T412P(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCCGTGTCGGTCAAGGGACTT	0.567000													8	25					0	0	0.008291	0	0
TAGAP	117289	broad.mit.edu	37	6	159457709	159457709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:159457709G>T	ENST00000367066.3	-	10	1677	c.1346C>A	c.(1345-1347)tCg>tAg	p.S449*	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Nonsense_Mutation_p.S271*|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	449					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S449*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGGGAGCACCGAACCCGGGGC	0.602000													12	109					1.61879e-10	2.32238e-10	0.001368	1	0
PDE1C	5137	broad.mit.edu	37	7	31890348	31890348	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:31890348A>T	ENST00000396184.3	-	9	962	c.758T>A	c.(757-759)cTg>cAg	p.L253Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.L313Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.L253Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.L253Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.L253Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	253	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L253Q(2)|p.L313Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CAGCTCCGTCAGCCAGTTCTG	0.473000													15	70					0	0	0.002450	0	0
MAST2	23139	broad.mit.edu	37	1	46500536	46500536	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:46500536T>A	ENST00000361297.2	+	29	4478	c.4195T>A	c.(4195-4197)Tca>Aca	p.S1399T	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Missense_Mutation_p.S1209T	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1399					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.S1399T(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCCACCCCGTTCACCACTACT	0.597000													10	68					0	0	0.006214	0	0
SHPRH	257218	broad.mit.edu	37	6	146256253	146256253	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:146256253G>A	ENST00000367503.3	-	13	3178	c.2780C>T	c.(2779-2781)tCt>tTt	p.S927F	SHPRH_ENST00000438092.2_Missense_Mutation_p.S927F|SHPRH_ENST00000367505.2_Missense_Mutation_p.S927F|SHPRH_ENST00000275233.7_Missense_Mutation_p.S927F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	927					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.S927F(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCACTGGAGAAAAGTGGAG	0.418000													6	40					0	0	0.001168	0	0
MMRN1	22915	broad.mit.edu	37	4	90856447	90856447	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:90856447G>C	ENST00000394980.1	+	7	1935	c.1616G>C	c.(1615-1617)aGc>aCc	p.S539T	MMRN1_ENST00000508372.1_Missense_Mutation_p.S281T|MMRN1_ENST00000264790.2_Missense_Mutation_p.S539T|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	539					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.S539T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTCAGTTAGCAATAATGTC	0.363000													21	74					0	0	0.001882	0	0
MSN	4478	broad.mit.edu	37	X	64958393	64958393	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:64958393G>C	ENST00000360270.5	+	11	1430	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	420					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.E420Q(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTAGGCCTTGGAAATGGCAGA	0.572000			T	ALK	ALCL								3	9					0	0	0.004672	0	0
SLC27A4	10999	broad.mit.edu	37	9	131105460	131105460	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:131105460G>T	ENST00000300456.3	+	2	166	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	SLC27A4_ENST00000372870.1_Missense_Mutation_p.G44V	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	17					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.V17L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CTCCAAGCTGGTGCTGAAACT	0.592000													10	26					1.76689e-08	2.39313e-08	0.006214	1	0
GABBR2	9568	broad.mit.edu	37	9	101151282	101151282	+	Silent	SNP	G	G	T	rs55677951		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:101151282G>T	ENST00000259455.2	-	10	1842	c.1383C>A	c.(1381-1383)tcC>tcA	p.S461S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	461					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.S461S(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTGGTGGTTCGGATCCTAGAG	0.542000													34	74					1.66425e-11	2.4562e-11	0.004878	1	0
GIGYF2	26058	broad.mit.edu	37	2	233671355	233671355	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:233671355C>T	ENST00000373566.3	+	16	2057	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	GIGYF2_ENST00000452341.2_Silent_p.P429P|GIGYF2_ENST00000409480.1_Silent_p.P620P|GIGYF2_ENST00000409547.1_Silent_p.P598P|GIGYF2_ENST00000409451.3_Silent_p.P619P|GIGYF2_ENST00000409196.3_Silent_p.P592P|GIGYF2_ENST00000373563.4_Silent_p.P598P			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	598	Gln-rich.				cell death		protein binding	p.P619P(1)|p.P598P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTCCAGCTCCCCCTCCTCATA	0.428000													5	114					0	0	0.001168	0	0
OR4D2	124538	broad.mit.edu	37	17	56247594	56247594	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:56247594C>T	ENST00000545221.1	+	1	578	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S193L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTGACACCTCACTGCTGGAG	0.522000													12	94					0	0	0.000978	0	0
PRSS48	345062	broad.mit.edu	37	4	152204272	152204272	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:152204272G>C	ENST00000455694.2	+	4	487	c.485G>C	c.(484-486)aGa>aCa	p.R162T	PRSS48_ENST00000441586.2_Missense_Mutation_p.R19T|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	162	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R162T(1)|p.?(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TCCACAGATAGAGATTACCAT	0.468000													56	142					0	0	0.003610	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603519	101603519	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:101603519C>A	ENST00000536262.2	-	1	666	c.108G>T	c.(106-108)ggG>ggT	p.G36G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	36					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.G36G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGGCCGCCCCCAGCGAAGG	0.662000													14	28					3.27435e-08	4.39777e-08	0.002450	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717515	222717515	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:222717515G>T	ENST00000343410.6	-	2	396	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	113					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.A113E(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)		GAGGTGGGCTGCGTAGGGCGA	0.547000													44	107					1.7489e-18	2.91257e-18	0.002852	1	0
SDK1	221935	broad.mit.edu	37	7	4285325	4285325	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:4285325G>T	ENST00000404826.2	+	44	6408	c.6269G>T	c.(6268-6270)aGc>aTc	p.S2090I	SDK1_ENST00000389531.3_Missense_Mutation_p.S2070I|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2090					cell adhesion	integral to membrane		p.S2090I(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGGCCTAGCCCCGGCGGC	0.612000													13	35					9.31168e-06	1.14853e-05	0.001855	1	0
HELT	391723	broad.mit.edu	37	4	185940984	185940984	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:185940984G>T	ENST00000338875.4	+	3	471	c.471G>T	c.(469-471)cgG>cgT	p.R157R	HELT_ENST00000515777.1_Silent_p.R72R|HELT_ENST00000505610.1_Silent_p.R72R	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	157							DNA binding	p.R157R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ATTTTCCCCGGGGAAGGGAAA	0.617000													7	22					8.12818e-05	9.56608e-05	0.001984	1	0
GPRASP1	9737	broad.mit.edu	37	X	101910920	101910920	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:101910920G>T	ENST00000537097.1	+	6	2892	c.2079G>T	c.(2077-2079)tgG>tgT	p.W693C	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W693C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W693C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W693C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	693	Glu-rich.					cytoplasm	protein binding	p.W693C(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGGAAGTTGGAAGTCTAGGC	0.483000													26	122					4.22769e-11	6.19676e-11	0.006320	1	0
NTM	50863	broad.mit.edu	37	11	132180014	132180014	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:132180014T>C	ENST00000374786.1	+	5	1149	c.670T>C	c.(670-672)Tac>Cac	p.Y224H	NTM_ENST00000374791.3_Missense_Mutation_p.Y224H|NTM_ENST00000427481.2_Missense_Mutation_p.Y215H|NTM_ENST00000374784.1_Missense_Mutation_p.Y224H|NTM_ENST00000425719.2_Missense_Mutation_p.Y224H|NTM_ENST00000539799.1_Missense_Mutation_p.Y224H|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	224	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.Y224H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGATCCACCATACATTTCAGA	0.493000													4	116					0	0	0.009096	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956510	143956510	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:143956510C>G	ENST00000292427.4	-	8	1293	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.E492Q|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	421					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.E421Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTATAGCGCTCAGGCCTCGGG	0.642000									Familial Hyperaldosteronism type I				11	76					0	0	0.008291	0	0
MTOR	2475	broad.mit.edu	37	1	11292494	11292494	+	Splice_Site	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:11292494T>A	ENST00000361445.4	-	16	2589	c.2514_splice	c.e16+1	p.Q838_splice		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	838					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.Q838L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AATACTCACCTGCCTTTTGGC	0.448000													19	83					0	0	0.001882	0	0
PRRG1	5638	broad.mit.edu	37	X	37312670	37312670	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:37312670T>C	ENST00000542554.1	+	5	725	c.453T>C	c.(451-453)taT>taC	p.Y151Y	PRRG1_ENST00000378628.4_Silent_p.Y151Y|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Silent_p.Y151Y|PRRG1_ENST00000449135.2_Silent_p.Y151Y	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	151						extracellular region|integral to plasma membrane	calcium ion binding	p.Y151Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTGGGATATGTAGTTGGGC	0.537000													23	92					0	0	0.003954	0	0
CACNA1D	776	broad.mit.edu	37	3	53760942	53760942	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:53760942G>A	ENST00000288139.3	+	16	2315	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	CACNA1D_ENST00000350061.5_Missense_Mutation_p.D713N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D713N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	713					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D733Y(1)|p.D733N(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGTGATGTACGATGGCATCAT	0.498000													10	155					0	0	0.006214	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997756	27997756	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:27997756C>T	ENST00000441525.1	-	1	1810	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	566								p.D566N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GCTCCATGATCTCTCCAGCCG	0.512000													11	87					0	0	0.001368	0	0
CXorf22	170063	broad.mit.edu	37	X	35969364	35969364	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:35969364G>C	ENST00000297866.5	+	5	839	c.773G>C	c.(772-774)gGt>gCt	p.G258A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	258								p.G258A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATACACTTTGGTCCTGTTTTC	0.408000													16	40					0	0	0.007413	0	0
ERCC5	2073	broad.mit.edu	37	13	103518145	103518145	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:103518145G>T	ENST00000355739.4	+	9	3506	c.2083G>T	c.(2083-2085)Gct>Tct	p.A695S	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C1120F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5									p.A695S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAAGCCCCTGCTGAGTCCGA	0.532000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	15					2.0095e-06	2.54206e-06	0.001984	1	0
FHL5	9457	broad.mit.edu	37	6	97058521	97058521	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:97058521G>A	ENST00000326771.2	+	6	958	c.578G>A	c.(577-579)aGg>aAg	p.R193K	FHL5_ENST00000541107.1_Missense_Mutation_p.R193K	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	193	LIM zinc-binding 3.					nucleus	zinc ion binding	p.R193K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGGCTGTAGGAAAGATCTC	0.448000													15	147					0	0	0.003163	0	0
COL20A1	57642	broad.mit.edu	37	20	61950514	61950514	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:61950514C>A	ENST00000422202.1	+	21	2857	c.2789C>A	c.(2788-2790)gCc>gAc	p.A930D	COL20A1_ENST00000435874.1_Missense_Mutation_p.A930D|COL20A1_ENST00000326996.6_Missense_Mutation_p.A923D|COL20A1_ENST00000358894.6_Missense_Mutation_p.A923D			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	923	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity	p.A923D(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CAGATGACAGCCGAGGACTTC	0.667000													4	24					0.00024832	0.000285958	0.009096	1	0
CCDC147	159686	broad.mit.edu	37	10	106139943	106139943	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:106139943C>A	ENST00000369704.3	+	9	1464	c.1330C>A	c.(1330-1332)Cgg>Agg	p.R444R	CCDC147_ENST00000369703.1_Silent_p.R66R|CCDC147_ENST00000312902.5_Silent_p.R66R	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	444								p.R444R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAGCGTGACCGGTACATCAA	0.493000													19	59					3.51602e-12	5.30501e-12	0.008871	1	0
ARMC3	219681	broad.mit.edu	37	10	23290941	23290941	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:23290941T>A	ENST00000298032.5	+	12	1603	c.1519T>A	c.(1519-1521)Tgt>Agt	p.C507S	ARMC3_ENST00000409983.3_Missense_Mutation_p.C507S|ARMC3_ENST00000409049.3_Missense_Mutation_p.C507S|ARMC3_ENST00000376528.4_Missense_Mutation_p.C244S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	507							binding	p.C507S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGATGGTCTGTGCTGGTGA	0.522000													3	33					0	0	0.004672	0	0
MAGI2	9863	broad.mit.edu	37	7	77764405	77764405	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:77764405G>T	ENST00000354212.4	-	17	3217	c.2964C>A	c.(2962-2964)caC>caA	p.H988Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.H974Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.H988Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	988	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.H988Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGATGTCAGCGTGAGGCATGT	0.537000													28	65					9.39395e-14	1.45323e-13	0.006320	1	0
PCDH15	65217	broad.mit.edu	37	10	55569054	55569054	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:55569054G>C	ENST00000395445.1	-	36	5150	c.4756C>G	c.(4756-4758)Ctg>Gtg	p.L1586V	PCDH15_ENST00000395446.1_Missense_Mutation_p.L782V|PCDH15_ENST00000395442.1_Missense_Mutation_p.L451V|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.L520V	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTGGTCCAGAGTGAGTTTC	0.438000										HNSCC(58;0.16)			4	42					0	0	0.000602	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734117	28734117	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:28734117G>T	ENST00000550043.1	+	0	522																											GATATGGGTTGGTCAAGTCGG	0.468000													8	66					0.000157383	0.000183376	0.003080	1	0
KIF7	374654	broad.mit.edu	37	15	90190168	90190168	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:90190168G>T	ENST00000394412.3	-	7	1757	c.1681C>A	c.(1681-1683)Cct>Act	p.P561T		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	561					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	p.P48N(1)|p.P561N(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGAGGTCGAGGCACAAAGGAC	0.687000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	32					3.27435e-08	4.39777e-08	0.002450	1	0
SNTB1	6641	broad.mit.edu	37	8	121823892	121823892	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:121823892G>A	ENST00000395601.3	-	2	606	c.192C>T	c.(190-192)acC>acT	p.T64T	SNTB1_ENST00000517992.1_Silent_p.T64T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	64	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.T64T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACGAGCCATTGGTGGCGGTCC	0.726000													9	26					0	0	0.001368	0	0
OR10G9	219870	broad.mit.edu	37	11	123894622	123894622	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:123894622G>T	ENST00000375024.1	+	1	903	c.903G>T	c.(901-903)ctG>ctT	p.L301L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGTTGAAACTGAGAGACAAAG	0.373000													14	78					0.00185496	0.00206571	0.001855	1	0
CHGB	1114	broad.mit.edu	37	20	5897521	5897521	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:5897521G>T	ENST00000378961.4	+	3	350	c.146G>T	c.(145-147)aGc>aTc	p.S49I	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	49						extracellular region	hormone activity	p.S49I(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCGAAGTCCAGCGCTCCACCC	0.557000													6	79					2.0095e-06	2.54206e-06	0.001984	1	0
LPHN3	23284	broad.mit.edu	37	4	62863922	62863922	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:62863922T>C	ENST00000512091.1	+	20	3877	c.3130T>C	c.(3130-3132)Tat>Cat	p.Y1044H	LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1044H|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1112H|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y1044H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1031					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.Y1044H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATTGCTTTATATAAAATGTT	0.303000													8	275					0	0	0.008291	0	0
KCNG4	93107	broad.mit.edu	37	16	84256316	84256316	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:84256316C>A	ENST00000308251.4	-	3	1135	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G356V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGTCTGCAGCCCCAGCGAGTG	0.672000													5	8					5.9392e-07	7.70296e-07	0.001168	1	0
RGS7	6000	broad.mit.edu	37	1	241031924	241031924	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:241031924C>T	ENST00000366565.1	-	9	953	c.572G>A	c.(571-573)aGc>aAc	p.S191N	RGS7_ENST00000366563.1_Missense_Mutation_p.S191N|RGS7_ENST00000366564.1_Missense_Mutation_p.S191N|RGS7_ENST00000401882.1_Missense_Mutation_p.S138N|RGS7_ENST00000331110.7_Missense_Mutation_p.S165N|RGS7_ENST00000366562.4_Missense_Mutation_p.S191N|RGS7_ENST00000407727.1_Missense_Mutation_p.S191N|RGS7_ENST00000446183.2_Missense_Mutation_p.S107N|RGS7_ENST00000348120.2_Missense_Mutation_p.S138N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	191					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.S191N(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTCTCTTGGCTGTCAAGGAT	0.478000													8	56					0	0	0.008291	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685253	125685253	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:125685253C>A	ENST00000371126.1	-	1	1581	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	447								p.G447W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAGGCCCCCCAGCCACAAAG	0.527000													8	80					1.5842e-08	2.15707e-08	0.001855	1	0
AREL1	9870	broad.mit.edu	37	14	75150054	75150054	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:75150054C>T	ENST00000356357.4	-	5	941	c.426G>A	c.(424-426)gtG>gtA	p.V142V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1									p.V142V(1)									CACCAAGCTTCACTGTGATTT	0.443000													51	114					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216051137	216051137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:216051137C>A	ENST00000366943.2	-	43	9030	c.8644G>T	c.(8644-8646)Gga>Tga	p.G2882*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.G2882*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2882	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2882*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTGAGTTCCTGAATAAATA	0.383000										HNSCC(13;0.011)			65	167					9.4991e-31	1.6617e-30	0.003610	1	0
TRIM58	25893	broad.mit.edu	37	1	248031162	248031162	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248031162C>A	ENST00000366481.3	+	4	811	c.763C>A	c.(763-765)Ctg>Atg	p.L255M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	255						intracellular	zinc ion binding	p.L255M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAGGAGTCCTGAGCAGGTA	0.478000													11	51					1.41608e-15	2.28136e-15	0.001855	1	0
FHOD3	80206	broad.mit.edu	37	18	34081919	34081919	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:34081919G>A	ENST00000257209.4	+	4	484	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	FHOD3_ENST00000445677.1_Missense_Mutation_p.R121Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R121Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R121Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	121	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R121Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCCAGCGGACGAGATTTGAGA	0.328000													4	15					0	0	0.000602	0	0
CENPF	1063	broad.mit.edu	37	1	214787202	214787202	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:214787202G>A	ENST00000366955.3	+	2	273	c.105G>A	c.(103-105)caG>caA	p.Q35Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	35	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.Q35Q(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGAAAAGCAGCAAAGGCAGT	0.463000													5	96					0	0	0.000602	0	0
ING1	3621	broad.mit.edu	37	13	111367917	111367917	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:111367917G>T	ENST00000375774.3	+	1	589	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	43					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.G43L(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTCTTTTTCGGGGAGGAGCGG	0.592000													19	45					6.49762e-13	9.90848e-13	0.006122	1	0
MARK2	2011	broad.mit.edu	37	11	63666261	63666261	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:63666261C>A	ENST00000402010.2	+	6	1009	c.430C>A	c.(430-432)Cat>Aat	p.H144N	MARK2_ENST00000377810.3_Missense_Mutation_p.H111N|MARK2_ENST00000502399.3_Missense_Mutation_p.H144N|MARK2_ENST00000377809.4_Missense_Mutation_p.H144N|MARK2_ENST00000508192.1_Missense_Mutation_p.H144N|MARK2_ENST00000350490.7_Missense_Mutation_p.H144N|MARK2_ENST00000408948.3_Missense_Mutation_p.H111N|MARK2_ENST00000509502.2_Missense_Mutation_p.H111N|MARK2_ENST00000413835.2_Missense_Mutation_p.H144N|MARK2_ENST00000315032.8_Missense_Mutation_p.H144N|MARK2_ENST00000361128.5_Missense_Mutation_p.H144N|MARK2_ENST00000425897.2_Missense_Mutation_p.H111N|MARK2_ENST00000513765.2_Missense_Mutation_p.H111N	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	144	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.H111N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTAGTGGCTCATGGCAGGAT	0.537000													12	55					1.05317e-09	1.48113e-09	0.002450	1	0
NTSR1	4923	broad.mit.edu	37	20	61341142	61341142	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:61341142G>A	ENST00000370501.3	+	1	954	c.583G>A	c.(583-585)Gcc>Acc	p.A195T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	195						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.A195T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CATCTGGCTCGCCTCGGCCCT	0.667000													15	35					0	0	0.004990	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541949	40541949	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:40541949C>A	ENST00000434248.1	-	5	882	c.817G>T	c.(817-819)Ggt>Tgt	p.G273C	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G125C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G273C(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTTACACCAGCATGAATA	0.353000													34	87					6.50621e-10	9.20041e-10	0.002836	1	0
TTN	7273	broad.mit.edu	37	2	179439537	179439537	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179439537C>A	ENST00000589042.1	-	326	71546	c.71322G>T	c.(71320-71322)tgG>tgT	p.W23774C	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W21206C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W14834C|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W14901C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W22133C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W14709C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22133	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W21206C(1)|p.W14834C(1)|p.W14901C(1)|p.W21204C(1)|p.W14709C(1)		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)			CTAACTCAACCCAGGTAGTAC	0.448000													5	53					0.000602214	0.000681872	0.000602	1	0
OR8K3	219473	broad.mit.edu	37	11	56086245	56086245	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:56086245A>T	ENST00000312711.1	+	1	463	c.463A>T	c.(463-465)Att>Ttt	p.I155F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I155F(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGCACATTCATTTCTCTTCT	0.418000													26	78					0	0	0.004656	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183059	167183059	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:167183059A>T	ENST00000476257.1	-	6	1099	c.801T>A	c.(799-801)acT>acA	p.T267T	SERPINI2_ENST00000264677.4_Silent_p.T267T|SERPINI2_ENST00000471111.1_Silent_p.T267T|SERPINI2_ENST00000461846.1_Silent_p.T267T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	267					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T267T(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTGTTGAGCAGTAATTAGTT	0.348000													5	161					0	0	0.000602	0	0
MYO18B	84700	broad.mit.edu	37	22	26294343	26294343	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:26294343C>A	ENST00000335473.7	+	29	4988	c.4738C>A	c.(4738-4740)Cat>Aat	p.H1580N	CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.H1580N|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.H1581N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1580	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.H1581N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGTGCCACCATCTTACCTG	0.483000													9	61					0.000442599	0.000504257	0.006214	1	0
RNF139	11236	broad.mit.edu	37	8	125498688	125498688	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:125498688C>T	ENST00000303545.3	+	2	1170	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	266					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.F266F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGATTCCTTCTTTATTTCTT	0.393000													35	85					0	0	0.002445	0	0
PMS1	5378	broad.mit.edu	37	2	190682749	190682749	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:190682749C>G	ENST00000441310.2	+	5	658	c.425C>G	c.(424-426)aCt>aGt	p.T142S	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_5'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.T142S|PMS1_ENST00000447232.2_Missense_Mutation_p.T142S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	142					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.T142S(1)|p.T142N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAGGTACAACTGTAACTGCT	0.323000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					5	49					0	0	0.000602	0	0
GGNBP2	79893	broad.mit.edu	37	17	34941772	34941772	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:34941772A>T	ENST00000304718.4	+	10	1574	c.1258A>T	c.(1258-1260)Agc>Tgc	p.S420C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	420					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.S420C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGCCTGTGGCAGCACTGAAGA	0.388000													23	101					0	0	0.001882	0	0
SPAM1	6677	broad.mit.edu	37	7	123594546	123594546	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:123594546T>A	ENST00000340011.5	+	3	1279	c.922T>A	c.(922-924)Ttt>Att	p.F308I	SPAM1_ENST00000460182.1_Missense_Mutation_p.F308I|SPAM1_ENST00000223028.7_Missense_Mutation_p.F308I|SPAM1_ENST00000402183.2_Missense_Mutation_p.F308I|SPAM1_ENST00000439500.1_Missense_Mutation_p.F308I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	308					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	p.F308I(2)		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)	CCGCATAGTTTTTACTGATCA	0.363000													6	21					0	0	0.001984	0	0
KIF3C	3797	broad.mit.edu	37	2	26204527	26204527	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:26204527T>A	ENST00000264712.3	-	1	839	c.260A>T	c.(259-261)cAg>cTg	p.Q87L	KIF3C_ENST00000405914.1_Missense_Mutation_p.Q87L	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	87	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q87L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGAAACCCTGGAGCACGGA	0.607000													7	78					0	0	0.003080	0	0
CTSK	1513	broad.mit.edu	37	1	150776582	150776582	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:150776582C>A	ENST00000271651.3	-	5	643	c.533G>T	c.(532-534)gGa>gTa	p.G178V	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	178					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	p.G237V(1)|p.G178V(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAGCCCCCTCCACAGCCATC	0.507000													13	121					1.02788e-11	1.52578e-11	0.004990	1	0
NFATC3	4775	broad.mit.edu	37	16	68225567	68225567	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:68225567G>A	ENST00000349223.5	+	9	3219	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N	NFATC3_ENST00000346183.3_Missense_Mutation_p.D999N|NFATC3_ENST00000575270.1_Missense_Mutation_p.D999N|NFATC3_ENST00000329524.4_Missense_Mutation_p.D999N|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	999					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.D999N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAGTTTGTGTGATCCAGCGTC	0.493000													11	160					0	0	0.003163	0	0
VEGFC	7424	broad.mit.edu	37	4	177608644	177608644	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:177608644C>T	ENST00000280193.2	-	6	1257	c.842G>A	c.(841-843)gGa>gAa	p.G281E	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	281	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.G281E(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTTGTTTGGTCCACAGATGTC	0.473000													3	21					0	0	0.004672	0	0
TACC1	6867	broad.mit.edu	37	8	38684771	38684771	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:38684771C>T	ENST00000379931.3	+	6	1953	c.1574C>T	c.(1573-1575)tCa>tTa	p.S525L	TACC1_ENST00000443286.2_Missense_Mutation_p.S529L|TACC1_ENST00000519416.1_Missense_Mutation_p.S317L|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000348567.4_Missense_Mutation_p.S75L|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.S513L|TACC1_ENST00000276520.8_Missense_Mutation_p.S103L|TACC1_ENST00000520973.1_Missense_Mutation_p.S318L|TACC1_ENST00000518415.1_Missense_Mutation_p.S468L|TACC1_ENST00000330691.6_Missense_Mutation_p.S87L|TACC1_ENST00000520615.1_Missense_Mutation_p.S318L|TACC1_ENST00000520340.1_Missense_Mutation_p.S477L			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	513					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.S513L(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCATCCACGTCATGTGGTCAG	0.468000													19	51					0	0	0.008871	0	0
CHM	1121	broad.mit.edu	37	X	85211305	85211305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:85211305G>T	ENST00000357749.2	-	8	1048	c.1019C>A	c.(1018-1020)tCa>tAa	p.S340*	CHM_ENST00000537751.1_Nonsense_Mutation_p.S192*|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	340					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.S340*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CATTGCAATTGAATGCATGAC	0.363000													13	48					6.72482e-11	9.77879e-11	0.003163	1	0
CEP170	9859	broad.mit.edu	37	1	243319538	243319538	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:243319538C>T	ENST00000366542.1	-	14	3947	c.3896G>A	c.(3895-3897)cGa>cAa	p.R1299Q	CEP170_ENST00000366543.1_Missense_Mutation_p.R1165Q|CEP170_ENST00000366544.1_Missense_Mutation_p.R1201Q|CEP170_ENST00000490813.1_Missense_Mutation_p.R25Q|CEP170_ENST00000481987.1_Missense_Mutation_p.R25Q	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1299	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.R1299Q(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TATCTCTTCTCGATGAGCAGT	0.398000													5	15					0	0	0.001984	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207866	21207866	+	Splice_Site	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:21207866G>A	ENST00000342679.4	+	8	945		c.e8+1		MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTACATGGCCGTGAGTGGTCC	0.627000													5	43					0	0	0.000602	0	0
DGKB	1607	broad.mit.edu	37	7	14880857	14880857	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:14880857C>G	ENST00000403951.2	-	2	451	c.32G>C	c.(31-33)aGc>aCc	p.S11T	DGKB_ENST00000399322.3_Missense_Mutation_p.S11T|DGKB_ENST00000444700.2_Missense_Mutation_p.S11T|DGKB_ENST00000258767.5_Missense_Mutation_p.S11T|DGKB_ENST00000402815.1_Missense_Mutation_p.S11T|DGKB_ENST00000407950.1_Missense_Mutation_p.S11T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.S11T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	11					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.S11T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCCGAAGGGCTGAGGTGGGC	0.393000													8	28					0	0	0.006214	0	0
TRPC7	57113	broad.mit.edu	37	5	135692735	135692735	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:135692735A>G	ENST00000513104.1	-	2	623	c.341T>C	c.(340-342)aTc>aCc	p.I114T	TRPC7_ENST00000426057.2_Missense_Mutation_p.I114T|TRPC7_ENST00000355180.3_Missense_Mutation_p.I114T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	114					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.I114T(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCTTGCTGATGGCCAGCAG	0.677000													7	24					0	0	0.001984	0	0
CD300A	11314	broad.mit.edu	37	17	72470716	72470716	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:72470716C>G	ENST00000360141.3	+	3	713	c.425C>G	c.(424-426)tCa>tGa	p.S142*	CD300A_ENST00000392625.3_Nonsense_Mutation_p.S29*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.S12*|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Nonsense_Mutation_p.S29*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	142					cell adhesion	integral to membrane|plasma membrane	receptor activity	p.S142*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCCAAGACCTCAACAATCACA	0.547000													3	101					0	0	0.004672	0	0
CDH4	1002	broad.mit.edu	37	20	60427890	60427890	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:60427890T>A	ENST00000360469.5	+	6	901	c.813T>A	c.(811-813)aaT>aaA	p.N271K	CDH4_ENST00000543233.1_Missense_Mutation_p.N197K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	271	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.N271K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGACATGAATGACAACCGCC	0.557000													21	67					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168102985	168102985	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:168102985C>T	ENST00000409195.1	+	9	5172	c.5083C>T	c.(5083-5085)Ctt>Ttt	p.L1695F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1473F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1695F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1520					actin cytoskeleton organization	cell junction	actin binding	p.L1695F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTATTGTCTTCTTCATGAAAA	0.333000													4	53					0	0	0.009096	0	0
KCNN2	3781	broad.mit.edu	37	5	113740528	113740528	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:113740528G>C	ENST00000512097.3	+	4	1994	c.976G>C	c.(976-978)Gca>Cca	p.A326P	KCNN2_ENST00000264773.3_Missense_Mutation_p.A326P|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	326						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A326T(3)|p.A326P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATAATTGCCGCATGGACTGT	0.328000													38	109					0	0	0.002852	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813429	106813429	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:106813429G>A	ENST00000407775.2	+	8	1369	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.Q241Q|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.Q104Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.Q241Q|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	373					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.Q373Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCGGCTTCCAGACTCAGAGGG	0.502000													33	132					0	0	0.004289	0	0
GRIN1	2902	broad.mit.edu	37	9	140040246	140040246	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:140040246G>T	ENST00000371561.3	+	3	1559	c.462G>T	c.(460-462)atG>atT	p.M154I	GRIN1_ENST00000371559.4_Missense_Mutation_p.M154I|GRIN1_ENST00000371550.4_Missense_Mutation_p.M154I|GRIN1_ENST00000371553.3_Missense_Mutation_p.M154I|GRIN1_ENST00000371555.4_Missense_Mutation_p.M154I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.M154I|GRIN1_ENST00000350902.5_Missense_Mutation_p.M154I|GRIN1_ENST00000315048.3_Missense_Mutation_p.M154I|GRIN1_ENST00000371546.4_Missense_Mutation_p.M154I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	154					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	p.M154I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTTTGAGATGATGCGTGTCT	0.662000													6	26					2.7689e-08	3.73845e-08	0.001984	1	0
CACNA1E	777	broad.mit.edu	37	1	181725136	181725136	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:181725136G>T	ENST00000526775.1	+	28	4142	c.3977G>T	c.(3976-3978)gGc>gTc	p.G1326V	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1296V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1345V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1277V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1326V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G952V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1345V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1345					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1345V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGTGAAGGGCCGGGAATGG	0.493000													9	28					4.68919e-08	6.27833e-08	0.008291	1	0
RIMS2	9699	broad.mit.edu	37	8	104987691	104987691	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:104987691G>A	ENST00000507740.1	+	13	2496	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	RIMS2_ENST00000436393.2_Missense_Mutation_p.G740R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G962R|RIMS2_ENST00000262231.10_Missense_Mutation_p.G801R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1024	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G754R(2)|p.G740R(1)|p.G1029R(1)|p.G962R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATGTTATAGGAAGGACTAG	0.433000										HNSCC(12;0.0054)			22	44					0	0	0.002299	0	0
STT3A	3703	broad.mit.edu	37	11	125484098	125484098	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:125484098G>T	ENST00000392708.4	+	14	1830	c.1671_splice	c.e14+1	p.Q557_splice	STT3A_ENST00000531491.1_Splice_Site_p.Q465_splice|STT3A_ENST00000529196.1_Splice_Site_p.Q557_splice	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	557					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.Q557H(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAGTAGGGCAGGTAAGATAAA	0.413000													40	140					4.67007e-22	7.98451e-22	0.008740	1	0
KLHL15	80311	broad.mit.edu	37	X	24006319	24006319	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:24006319T>C	ENST00000328046.8	-	4	1789	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	512								p.T512A(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TATACTTCTGTAGAAGGGCAT	0.458000													34	104					0	0	0.003271	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725695	12725695	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:12725695C>A	ENST00000380682.1	+	13	1901	c.1395C>A	c.(1393-1395)agC>agA	p.S465R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	465	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.S455R(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGACTTTAGCCACGTCAACA	0.507000													23	98					1.10513e-12	1.68127e-12	0.002299	1	0
PDE11A	50940	broad.mit.edu	37	2	178494168	178494168	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:178494168G>T	ENST00000286063.5	-	20	3086	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	PDE11A_ENST00000449286.2_Silent_p.A565A|PDE11A_ENST00000450799.2_Silent_p.A114A|PDE11A_ENST00000389683.3_Silent_p.A479A|PDE11A_ENST00000409504.1_Silent_p.A565A|PDE11A_ENST00000358450.4_Silent_p.A673A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	923					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A923A(1)|p.A673A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCATAACACTGGCAGGGGAGG	0.498000									Primary Pigmented Nodular Adrenocortical Disease, Familial				39	113					5.7616e-29	1.00378e-28	0.003610	1	0
OR10G7	390265	broad.mit.edu	37	11	123909167	123909167	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:123909167G>T	ENST00000330487.5	-	1	550	c.542C>A	c.(541-543)cCg>cAg	p.P181Q		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGGATGGGCGGTGCGTCACA	0.537000													39	196					8.72198e-27	1.5093e-26	0.003610	1	0
NCAPH	23397	broad.mit.edu	37	2	97030231	97030231	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:97030231G>T	ENST00000455200.1	+	13	1862	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	NCAPH_ENST00000427946.1_Missense_Mutation_p.A398S|NCAPH_ENST00000240423.4_Missense_Mutation_p.A534S			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	534					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.A534S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACTTAAGATGGCCCAGGGCCA	0.383000													5	28					0.000602214	0.000681872	0.000602	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229604	160229604	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160229604G>A	ENST00000392783.2	-	27	4660	c.4165C>T	c.(4165-4167)Ctt>Ttt	p.L1389F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1353F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1355F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1289F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L1389F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATTGGGGAAGAATCCAGTAC	0.418000													20	42					0	0	0.004656	0	0
DMXL1	1657	broad.mit.edu	37	5	118485675	118485675	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:118485675G>T	ENST00000311085.8	+	18	4233	c.4153G>T	c.(4153-4155)Gac>Tac	p.D1385Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1385Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1385								p.D1385Y(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CACTACCAGAGACCCCCAGGC	0.453000													14	37					0.000151284	0.000177073	0.001855	1	0
C16orf78	123970	broad.mit.edu	37	16	49430386	49430386	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:49430386A>G	ENST00000299191.3	+	4	564	c.447A>G	c.(445-447)ccA>ccG	p.P149P		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	149								p.P149P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGCCAAACCCATTCCGTCGAC	0.498000													24	38					0	0	0.005443	0	0
KIAA1524	57650	broad.mit.edu	37	3	108304034	108304034	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:108304034C>T	ENST00000295746.8	-	2	204	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	KIAA1524_ENST00000491772.1_5'UTR|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	43						cytoplasm|integral to membrane	protein binding	p.R43Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTAAATAGTCGTGTGAGTTT	0.333000													16	22					0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	140992364	140992364	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:140992364T>A	ENST00000389484.3	-	90	14621	c.13650A>T	c.(13648-13650)ctA>ctT	p.L4550L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4550					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4550L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ccccagcagttagtggtcctt	0.438000										TSP Lung(27;0.18)			21	56					0	0	0.003330	0	0
NEU4	129807	broad.mit.edu	37	2	242755785	242755785	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:242755785C>G	ENST00000391969.2	+	3	815	c.104C>G	c.(103-105)aCc>aGc	p.T35S	NEU4_ENST00000405370.1_Missense_Mutation_p.T35S|NEU4_ENST00000404257.1_Missense_Mutation_p.T47S|NEU4_ENST00000325935.6_Missense_Mutation_p.T48S|NEU4_ENST00000407683.1_Missense_Mutation_p.T35S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	35						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.T47S(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCGGGCCCACCCTGCTGGCC	0.736000													5	18					0	0	0.000602	0	0
RTN1	6252	broad.mit.edu	37	14	60193858	60193858	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:60193858C>T	ENST00000267484.5	-	3	1879	c.1544G>A	c.(1543-1545)gGc>gAc	p.G515D		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	515					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.G515D(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTCGGCCAGGCCCCGCCGGCT	0.726000													4	11					0	0	0.009096	0	0
BCAN	63827	broad.mit.edu	37	1	156628514	156628514	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:156628514C>A	ENST00000329117.4	+	13	2953	c.2617C>A	c.(2617-2619)Ccc>Acc	p.P873T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000496038.1_3'UTR	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	873	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.P873T(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTGTGTGCCCAGAAGACC	0.612000													8	72					0.000274275	0.000314437	0.004482	1	0
BCAS3	54828	broad.mit.edu	37	17	59093252	59093252	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:59093252A>C	ENST00000589222.1	+	16	1695	c.1627A>C	c.(1627-1629)Aaa>Caa	p.K543Q	BCAS3_ENST00000585744.1_Missense_Mutation_p.K314Q|BCAS3_ENST00000390652.5_Missense_Mutation_p.K543Q|BCAS3_ENST00000408905.3_Missense_Mutation_p.K543Q|BCAS3_ENST00000588462.1_Missense_Mutation_p.K543Q|BCAS3_ENST00000588874.1_Missense_Mutation_p.K314Q|BCAS3_ENST00000407086.3_Missense_Mutation_p.K543Q			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	543						nucleus		p.K543Q(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GACCATCACCAAACGAACCGG	0.428000													4	131					0	0	0.009096	0	0
MRC1	4360	broad.mit.edu	37	10	17949691	17949691	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:17949691G>T	ENST00000331429.2	+	28	4158	c.4055G>T	c.(4054-4056)gGa>gTa	p.G1352V															p.G1352V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTACAAAGGATATATTTGT	0.378000													33	197					1.60099e-16	2.60541e-16	0.004878	1	0
ITIH6	347365	broad.mit.edu	37	X	54783437	54783437	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:54783437G>A	ENST00000218436.6	-	8	3099	c.3070C>T	c.(3070-3072)Cca>Tca	p.P1024S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1024					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P1024S(1)									AAAGCTGGTGGGTTCAAGGAC	0.522000													8	20					0	0	0.006214	0	0
ATAD5	79915	broad.mit.edu	37	17	29221104	29221104	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:29221104C>G	ENST00000321990.4	+	21	5611	c.5233C>G	c.(5233-5235)Ctt>Gtt	p.L1745V		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1745					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.L1745V(1)|p.L1745I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AACCAACGATCTTACTTTTTA	0.328000													6	24					0	0	0.003080	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141434	126141434	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:126141434A>T	ENST00000263578.5	+	2	262	c.188A>T	c.(187-189)cAc>cTc	p.H63L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.H49L|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	63						integral to membrane|mitochondrion	oxidoreductase activity|protein binding	p.H63L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCTCCCGAGCACTCGGATGTG	0.547000													12	65					0	0	0.000978	0	0
OR6K2	81448	broad.mit.edu	37	1	158670237	158670237	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:158670237A>T	ENST00000359610.2	-	1	249	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69Q(1)		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)					CCAAATCTCCAGGAAAGAAAG	0.443000													15	50					0	0	0.006122	0	0
NELL2	4753	broad.mit.edu	37	12	45169922	45169922	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:45169922A>T	ENST00000429094.2	-	8	1278	c.774T>A	c.(772-774)gcT>gcA	p.A258A	NELL2_ENST00000452445.2_Silent_p.A258A|NELL2_ENST00000333837.4_Silent_p.A281A|NELL2_ENST00000551601.1_Silent_p.A257A|NELL2_ENST00000395487.2_Silent_p.A257A|NELL2_ENST00000549027.1_Silent_p.A257A|NELL2_ENST00000437801.2_Silent_p.A308A	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	258	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.A308A(1)|p.A258A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCGCTGTTCAGCTCGAGACA	0.438000													16	44					0	0	0.004990	0	0
MSTN	2660	broad.mit.edu	37	2	190927318	190927318	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:190927318T>A	ENST00000260950.4	-	1	137	c.5A>T	c.(4-6)cAa>cTa	p.Q2L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	2					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.Q2L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTGCAGTTTTTGCATGATTTT	0.303000													12	56					0	0	0.000978	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728532	12728532	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:12728532G>T	ENST00000380682.1	+	14	1991	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	495	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.L485L(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCACGCTTCTGATGGAATCCT	0.453000													64	247					2.50483e-33	4.39972e-33	0.003610	1	0
OR5H15	403274	broad.mit.edu	37	3	97888240	97888240	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:97888240G>T	ENST00000356526.2	+	1	697	c.697G>T	c.(697-699)Ggt>Tgt	p.G233C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K232_G233>NC(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATCTGATAAGGGTGTAAGGAA	0.403000													26	58					3.65163e-15	5.82446e-15	0.006320	1	0
COL6A6	131873	broad.mit.edu	37	3	130289710	130289710	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:130289710C>A	ENST00000358511.6	+	6	2481	c.2450C>A	c.(2449-2451)tCt>tAt	p.S817Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.S817Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	817	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.S817Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTGATAGCTCTGGCAGTATT	0.403000													31	52					9.65021e-13	1.46985e-12	0.002096	1	0
OR5F1	338674	broad.mit.edu	37	11	55761571	55761571	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55761571G>T	ENST00000278409.1	-	1	530	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTCACAGAAGAAGTGATGGA	0.473000													14	79					8.60227e-14	1.33237e-13	0.004007	1	0
ELTD1	64123	broad.mit.edu	37	1	79383618	79383618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:79383618C>A	ENST00000370742.3	-	11	1642	c.1579G>T	c.(1579-1581)Gga>Tga	p.G527*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	527					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.K526_G527>N*(1)|p.G527*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAATCCCTTGTTGTAG	0.418000													9	130					1.12685e-05	1.37275e-05	0.004482	1	0
OGT	8473	broad.mit.edu	37	X	70782807	70782807	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:70782807G>C	ENST00000373719.3	+	16	2305	c.2088G>C	c.(2086-2088)ttG>ttC	p.L696F	OGT_ENST00000373701.3_Missense_Mutation_p.L686F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	696					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.L696F(1)|p.L686F(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCGAGAAATTGGCTTATATGC	0.428000													8	85					0	0	0.004482	0	0
UBBP4	23666	broad.mit.edu	37	17	21731348	21731348	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:21731348G>A	ENST00000584755.1	+	2	1047	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.R217Q(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGAAGGAGTCGACCCTGCACC	0.547000													12	96					0	0	0.001368	0	0
LAMA5	3911	broad.mit.edu	37	20	60885969	60885969	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:60885969G>A	ENST00000252999.3	-	74	10336	c.10270C>T	c.(10270-10272)Cgc>Tgc	p.R3424C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3424	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R3424C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTGCCAGCGGCCAGGCCGG	0.692000													7	23					0	0	0.008291	0	0
OR4N2	390429	broad.mit.edu	37	14	20296242	20296242	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:20296242T>A	ENST00000315947.1	+	1	635	c.635T>A	c.(634-636)cTg>cAg	p.L212Q	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L212Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGCTTTCTGGGGCTTCTG	0.512000													19	154					0	0	0.007413	0	0
ABCC11	85320	broad.mit.edu	37	16	48201550	48201550	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:48201550T>A	ENST00000394747.1	-	28	4262	c.3913A>T	c.(3913-3915)Aca>Tca	p.T1305S	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1267S|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1305S|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1305S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1305	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1305S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGGAGGCTGTGGCTTCATCG	0.532000													63	131					0	0	0.003610	0	0
LONP1	9361	broad.mit.edu	37	19	5711898	5711898	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:5711898C>A	ENST00000360614.3	-	4	911	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	LONP1_ENST00000585374.1_Missense_Mutation_p.A138S|LONP1_ENST00000590729.1_Missense_Mutation_p.A138S|LONP1_ENST00000593119.1_Missense_Mutation_p.A188S|LONP1_ENST00000540670.2_Missense_Mutation_p.A56S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	252	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.S251_A252>RS(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTGCCTGGCGCTCAGCTCG	0.662000													30	32					6.07407e-21	1.03436e-20	0.007291	1	0
DOCK10	55619	broad.mit.edu	37	2	225670017	225670017	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:225670017C>G	ENST00000409592.3	-	36	4052	c.3939G>C	c.(3937-3939)ttG>ttC	p.L1313F	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1319F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1319							GTP binding	p.L1317F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGAGCCAATCAAAGACAAGG	0.423000													16	113					0	0	0.004990	0	0
CCS	9973	broad.mit.edu	37	11	66367067	66367067	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:66367067C>A	ENST00000533244.1	+	4	829	c.388C>A	c.(388-390)Cac>Aac	p.H130N	CCS_ENST00000310190.4_Missense_Mutation_p.H111N	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	130	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	p.H130N(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCATGGACTCCACGTCCATCA	0.577000													11	37					4.36969e-10	6.19965e-10	0.001855	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139104	90139104	+	RNA	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:90139104C>T	ENST00000492446.1	+	0	27																											CAGGACACAGCATGGACATGA	0.542000													19	181					0	0	0.010504	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092986	30092986	+	RNA	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:30092986C>T	ENST00000567636.1	+	0	1361					NR_003558.1																						GTCTGTTCCTCCTTCTCAGGT	0.537000													4	14					0	0	0.009096	0	0
KIRREL2	84063	broad.mit.edu	37	19	36348297	36348297	+	Missense_Mutation	SNP	G	G	T	rs147522074	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:36348297G>T	ENST00000360202.5	+	2	310	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G38W|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G38W|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G38W|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	38	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane		p.G38W(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGCTGGGGGAGGAAGC	0.662000													37	67					1.30998e-17	2.15643e-17	0.005524	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525707	176525707	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:176525707C>T	ENST00000367662.3	+	2	1413	c.249C>T	c.(247-249)ccC>ccT	p.P83P	PAPPA2_ENST00000367661.3_Silent_p.P83P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	83					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P83P(4)		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						GGCCCTACCCCGTGGGGGAGC	0.562000													6	137					0	0	0.001984	0	0
ALS2	57679	broad.mit.edu	37	2	202582828	202582828	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:202582828C>T	ENST00000264276.6	-	24	4180	c.3808G>A	c.(3808-3810)Gag>Aag	p.E1270K	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1270					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.E1270K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTATCACTCTCATATAGACTA	0.353000													4	32					0	0	0.000602	0	0
GLI1	2735	broad.mit.edu	37	12	57865470	57865470	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:57865470C>T	ENST00000228682.2	+	12	3038	c.2947C>T	c.(2947-2949)Cat>Tat	p.H983Y	GLI1_ENST00000543426.1_Missense_Mutation_p.H855Y|GLI1_ENST00000546141.1_Missense_Mutation_p.H942Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	983					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.H983Y(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TAGGGCTTCACATAGGGCAGC	0.547000													25	46					0	0	0.004656	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770504	31770504	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:31770504G>T	ENST00000240587.4	-	2	522	c.195C>A	c.(193-195)gcC>gcA	p.A65A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	65					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A65A(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGAAAACTCGGCGGCCGGGG	0.587000													12	29					9.05144e-12	1.35772e-11	0.001855	1	0
ZNF804B	219578	broad.mit.edu	37	7	88962752	88962752	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:88962752C>A	ENST00000333190.4	+	4	1065	c.456C>A	c.(454-456)ccC>ccA	p.P152P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	152						intracellular	zinc ion binding	p.P152P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAATTTTCCCCATTAAGAATG	0.408000										HNSCC(36;0.09)			10	32					0.000442599	0.000504257	0.006214	1	0
SCN8A	6334	broad.mit.edu	37	12	52180553	52180553	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:52180553G>C	ENST00000354534.5	+	22	4348	c.4170G>C	c.(4168-4170)aaG>aaC	p.K1390N	SCN8A_ENST00000545061.1_Missense_Mutation_p.K1349N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1390					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.K1390N(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAGATGGAAGAACGTGAAGA	0.358000													4	38					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179459375	179459375	+	Splice_Site	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179459375T>A	ENST00000589042.1	-	296	58072		c.e296-2		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(5)		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)			CTGGTACAGCTGCGAATATAA	0.353000													7	98					0	0	0.003080	0	0
NLRP2	55655	broad.mit.edu	37	19	55494845	55494845	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:55494845G>T	ENST00000543010.1	+	6	1922	c.1779G>T	c.(1777-1779)aaG>aaT	p.K593N	NLRP2_ENST00000448584.2_Missense_Mutation_p.K593N|NLRP2_ENST00000537859.1_Missense_Mutation_p.K571N|NLRP2_ENST00000427260.2_Missense_Mutation_p.K570N|NLRP2_ENST00000339757.7_Missense_Mutation_p.K571N|NLRP2_ENST00000263437.6_Missense_Mutation_p.K590N|NLRP2_ENST00000391721.4_Missense_Mutation_p.K569N|NLRP2_ENST00000538819.1_Missense_Mutation_p.K569N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	593					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.K593N(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAAGTTGTAAGGGTGGACATT	0.542000													17	34					7.21436e-19	1.20615e-18	0.008871	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30688619	30688619	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:30688619C>T	ENST00000215790.7	-	9	1436	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	TBC1D10A_ENST00000403477.3_Silent_p.K431K|TBC1D10A_ENST00000403362.1_Silent_p.K336K|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	424						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.K424K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTGGCTTGGGCTTGGCTTTGG	0.627000													6	90					0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858499	9858499	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:9858499C>G	ENST00000396573.2	-	14	3211	c.2902G>C	c.(2902-2904)Gcc>Ccc	p.A968P	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A811P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A968P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A968P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A968P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A968P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	968					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A968P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCCGGTTGGCCACAAATGTT	0.463000													5	82					0	0	0.000602	0	0
POF1B	79983	broad.mit.edu	37	X	84562267	84562267	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:84562267T>A	ENST00000262753.4	-	11	1211	c.1066A>T	c.(1066-1068)Aag>Tag	p.K356*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.K356*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	356							actin binding	p.K356*(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGTCTCATCTTGTCATTTTCC	0.338000													9	25					0	0	0.004482	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764151	92764151	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:92764151T>C	ENST00000318238.4	-	5	2350	c.1134A>G	c.(1132-1134)aaA>aaG	p.K378K	SAMD9L_ENST00000411955.1_Silent_p.K378K|SAMD9L_ENST00000437805.1_Silent_p.K378K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	378								p.K378K(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCAGCCTCTTTTCTAGATG	0.413000													61	189					0	0	0.003610	0	0
UBQLN1	29979	broad.mit.edu	37	9	86292810	86292810	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:86292810G>A	ENST00000376395.4	-	6	1460	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	UBQLN1_ENST00000257468.7_Missense_Mutation_p.R313C	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	313					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.R313S(1)|p.R313C(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTTTCTGTACGGGAAGGTTGA	0.458000													4	93					0	0	0.001168	0	0
OR4N2	390429	broad.mit.edu	37	14	20295722	20295722	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:20295722C>A	ENST00000568211.1	+	1	115	c.115C>A	c.(115-117)Ctc>Atc	p.L39I	OR4N2_ENST00000315947.1_Missense_Mutation_p.L39I			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCATCATCCTCCCTGGAAA	0.443000													74	377					3.80207e-26	6.57047e-26	0.003610	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13939467	13939467	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:13939467G>A	ENST00000254323.2	+	12	2226	c.2037G>A	c.(2035-2037)cgG>cgA	p.R679R	ZSWIM4_ENST00000440752.2_Silent_p.R513R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	679							zinc ion binding	p.R679R(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGGTGATGCGGATGACTCTGA	0.612000													28	44					0	0	0.009535	0	0
MYH7B	57644	broad.mit.edu	37	20	33577898	33577898	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:33577898C>A	ENST00000262873.7	+	19	2067	c.1975C>A	c.(1975-1977)Cag>Aag	p.Q659K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	617	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.Q659K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAGAAGTCACAGAATAGGCT	0.547000													30	95					1.36615e-20	2.31721e-20	0.002836	1	0
TTN	7273	broad.mit.edu	37	2	179450060	179450060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179450060G>T	ENST00000589042.1	-	309	64635	c.64411C>A	c.(64411-64413)Ctt>Att	p.L21471I	TTN_ENST00000342992.6_Missense_Mutation_p.L18903I|TTN_ENST00000359218.5_Missense_Mutation_p.L12531I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L12598I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L19830I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L12406I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19830	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L12406I(1)|p.L18903I(1)|p.L12531I(1)|p.L12598I(1)|p.L18901I(1)		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)			TCTGGCATAAGGATCTTTGGT	0.388000													15	175					6.31663e-08	8.40471e-08	0.003163	1	0
INPP4B	8821	broad.mit.edu	37	4	143094812	143094812	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:143094812C>G	ENST00000513000.1	-	17	1765	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	INPP4B_ENST00000308502.4_Missense_Mutation_p.K444N|INPP4B_ENST00000509777.1_Missense_Mutation_p.K444N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K444N|INPP4B_ENST00000262992.4_Missense_Mutation_p.K444N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	444					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.K444N(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTAAAGAATTCTTCAAGCTGT	0.388000													26	62					0	0	0.003954	0	0
SERPINA11	256394	broad.mit.edu	37	14	94908973	94908973	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:94908973C>A	ENST00000334708.3	-	5	1303	c.1239G>T	c.(1237-1239)ctG>ctT	p.L413L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	413					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L595L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAACTTTTCCCAGGAAGAGTA	0.532000													4	16					0.00024832	0.000285958	0.009096	1	0
FNDC3B	64778	broad.mit.edu	37	3	172025273	172025273	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:172025273A>T	ENST00000336824.4	+	10	1281	c.1182A>T	c.(1180-1182)tcA>tcT	p.S394S	FNDC3B_ENST00000415807.2_Silent_p.S394S|FNDC3B_ENST00000416957.1_Silent_p.S394S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	394	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane		p.S394S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCAAAAGTTCACTAACCCTGC	0.522000													10	24					0	0	0.000978	0	0
ZNF257	113835	broad.mit.edu	37	19	22271620	22271620	+	Silent	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:22271620T>G	ENST00000594947.1	+	4	1212	c.1068T>G	c.(1066-1068)tcT>tcG	p.S356S		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S356S(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTAACCGGTCTTCACACCTTA	0.408000													6	53					0	0	0.001168	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339481	73339481	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:73339481T>A	ENST00000258098.6	-	1	665	c.425A>T	c.(424-426)cAc>cTc	p.H142L		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	142					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.H142L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCACTGCGTGTGCTGGGCGCG	0.692000													10	17					0	0	0.006214	0	0
TSGA13	114960	broad.mit.edu	37	7	130353959	130353959	+	Silent	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:130353959T>G	ENST00000456951.1	-	9	1574	c.723A>C	c.(721-723)gcA>gcC	p.A241A	TSGA13_ENST00000356588.3_Silent_p.A241A			Q96PP4	TSG13_HUMAN	testis specific, 13	241								p.A241A(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CCAAGAGCGATGCGAGTGTCA	0.577000													19	81					0	0	0.008871	0	0
MFSD11	79157	broad.mit.edu	37	17	74765921	74765921	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:74765921C>G	ENST00000588460.1	+	10	2884	c.842C>G	c.(841-843)tCt>tGt	p.S281C	MFSD11_ENST00000593181.1_Missense_Mutation_p.S229C|MFSD11_ENST00000590514.1_Missense_Mutation_p.S281C|MFSD11_ENST00000336509.4_Missense_Mutation_p.S281C|MFSD11_ENST00000355954.3_Missense_Mutation_p.S229C|MFSD11_ENST00000586622.1_Missense_Mutation_p.S281C	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	281						integral to membrane		p.S281C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						ATTGGACTTTCTGGCATTTTC	0.313000													8	172					0	0	0.004482	0	0
OR1F1	4992	broad.mit.edu	37	16	3254739	3254739	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:3254739C>G	ENST00000304646.2	+	1	493	c.493C>G	c.(493-495)Cca>Gca	p.P165A	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165A(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GCTGATGGCTCCACTCTCATT	0.512000													7	65					0	0	0.003080	0	0
P2RX1	5023	broad.mit.edu	37	17	3819483	3819483	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:3819483G>A	ENST00000225538.3	-	1	311	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	13					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.L13F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TACTCGAAGAGGAAGGCGGCC	0.642000													35	90					0	0	0.007835	0	0
SORCS1	114815	broad.mit.edu	37	10	108458987	108458987	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:108458987C>A	ENST00000263054.6	-	9	1405	c.1398G>T	c.(1396-1398)atG>atT	p.M466I	SORCS1_ENST00000369698.1_Start_Codon_SNP_p.M1I|SORCS1_ENST00000344440.6_Missense_Mutation_p.M466I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	466						integral to membrane	neuropeptide receptor activity|protein binding	p.M466I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAGGTCGATCATGATGTTGC	0.542000													10	41					1.76689e-08	2.39313e-08	0.006214	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557703	170557703	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:170557703C>T	ENST00000359744.3	+	4	610	c.222C>T	c.(220-222)ttC>ttT	p.F74F	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	74							metal ion binding|pyridoxal phosphatase activity	p.F74F(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CATTGCCTTTCACTCCAGGGA	0.358000													11	98					0	0	0.000978	0	0
LILRB4	11006	broad.mit.edu	37	19	55177761	55177761	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:55177761G>A	ENST00000391736.1	+	10	1260	c.945G>A	c.(943-945)caG>caA	p.Q315Q	LILRB4_ENST00000430952.2_Silent_p.Q315Q|LILRB4_ENST00000270452.2_Silent_p.Q315Q|LILRB4_ENST00000391733.3_Silent_p.Q315Q|LILRB4_ENST00000391734.3_Silent_p.Q315Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	315						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGGGCCTACAGAGGAGGTAAT	0.617000													7	44					0	0	0.004482	0	0
FAP	2191	broad.mit.edu	37	2	163099430	163099430	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:163099430G>A	ENST00000188790.4	-	2	286	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	FAP_ENST00000443424.1_Missense_Mutation_p.R27C	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	27					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.R27C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTTGAAGGGCGTAAGACAATG	0.388000													4	23					0	0	0.000602	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013488	142013488	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142013488G>T	ENST00000390357.3	+	0	372																											CAGCAGCCAAGACACAGCCTT	0.592000													23	81					7.41877e-09	1.01563e-08	0.001882	1	0
SOX9	6662	broad.mit.edu	37	17	70118928	70118928	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:70118928A>C	ENST00000245479.2	+	2	872	c.500A>C	c.(499-501)aAg>aCg	p.K167T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	167					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.K167T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCACAAGAAGGACCACCCG	0.672000													5	59					0	0	0.000602	0	0
EEF2K	29904	broad.mit.edu	37	16	22268994	22268994	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:22268994C>G	ENST00000263026.5	+	9	1406	c.932C>G	c.(931-933)tCt>tGt	p.S311C		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	311	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.S311C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTCTTCTACTCTCATGCCTGC	0.612000													13	44					0	0	0.002450	0	0
RPH3A	22895	broad.mit.edu	37	12	113307716	113307716	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:113307716C>A	ENST00000389385.4	+	10	1165	c.668C>A	c.(667-669)gCt>gAt	p.A223D	RPH3A_ENST00000551052.1_Missense_Mutation_p.A219D|RPH3A_ENST00000548866.1_Missense_Mutation_p.A174D|RPH3A_ENST00000543106.2_Missense_Mutation_p.A223D|RPH3A_ENST00000415485.3_Missense_Mutation_p.A223D|RPH3A_ENST00000447659.2_Missense_Mutation_p.A174D|RPH3A_ENST00000420983.2_Missense_Mutation_p.A223D|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	223	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.A219D(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAGCCTCTGCTCCCGGGCGA	0.557000													20	55					1.01871e-10	1.47135e-10	0.008871	1	0
FOXB2	442425	broad.mit.edu	37	9	79635338	79635338	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:79635338C>A	ENST00000376708.1	+	1	768	c.768C>A	c.(766-768)gcC>gcA	p.A256A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	256	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.A256A(2)		breast(1)|lung(8)|ovary(1)	10						ccgccgctgccgccgcggccg	0.736000													6	7					8.12818e-05	9.56608e-05	0.001984	1	0
OOSP2	219990	broad.mit.edu	37	11	59811015	59811015	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:59811015A>T	ENST00000278855.2	+	2	323	c.138A>T	c.(136-138)atA>atT	p.I46I	PLAC1L_ENST00000532905.1_Silent_p.I15I	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		46						extracellular region		p.I46I(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATCTGTATATATTTGCGGATG	0.393000													8	46					0	0	0.008291	0	0
NUDCD1	84955	broad.mit.edu	37	8	110257660	110257660	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:110257660T>A	ENST00000239690.4	-	9	1724	c.1350A>T	c.(1348-1350)aaA>aaT	p.K450N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.K421N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	450								p.K450N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGGGCATTTCTTTAGGATCCA	0.393000													9	42					0	0	0.004482	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733568	106733568	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:106733568G>T	ENST00000390610.2	-	0	71																											GGATCCTCCAGGTGCAGTCCA	0.557000													25	71					1.77063e-15	2.84186e-15	0.005443	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290762	20290762	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:20290762T>A	ENST00000377252.3	+	2	1012	c.171T>A	c.(169-171)gaT>gaA	p.D57E	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D57E	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	57						integral to membrane		p.D57E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGAAGTTGATTCACACGCGT	0.493000													4	31					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103412485	103412485	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:103412485C>T	ENST00000358392.2	-	42	3549	c.3232G>A	c.(3232-3234)Ggt>Agt	p.G1078S	COL11A1_ENST00000512756.1_Missense_Mutation_p.G950S|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1066S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1066	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1066S(1)|p.G1078S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGCTGTACCTGCTGACCCA	0.463000													4	22					0	0	0.000602	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214117	179214117	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179214117G>T	ENST00000190611.4	+	12	1529		c.e12+1		OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport		lipid binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCACAGAAAGGTAAGAACAAA	0.363000													18	58					5.03518e-11	7.36353e-11	0.007413	1	0
GABRQ	55879	broad.mit.edu	37	X	151815584	151815584	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:151815584G>A	ENST00000370306.2	+	4	502	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	161						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.R161H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGAATCGCGTGTTTCAG	0.537000													9	41					0	0	0.004482	0	0
CDH10	1008	broad.mit.edu	37	5	24487965	24487965	+	Missense_Mutation	SNP	G	G	C	rs143036065		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:24487965G>C	ENST00000264463.4	-	12	2681	c.2174C>G	c.(2173-2175)cCc>cGc	p.P725R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P725R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGTGCGGTGGGGTCAAGATC	0.458000										HNSCC(23;0.051)			7	98					0	0	0.003080	0	0
TMEM257	9142	broad.mit.edu	37	X	144909468	144909468	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:144909468C>A	ENST00000408967.2	+	1	541	c.273C>A	c.(271-273)gcC>gcA	p.A91A		NM_004709.2	NP_004700.1			transmembrane protein 257									p.A91A(2)									TGGTTCCAGCCTACAGAATGC	0.393000													18	33					0.006122	0.00670132	0.006122	1	0
PVRL2	5819	broad.mit.edu	37	19	45375315	45375315	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:45375315G>A	ENST00000252483.5	+	3	684	c.684G>A	c.(682-684)tcG>tcA	p.S228S	PVRL2_ENST00000252485.4_Silent_p.S228S	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	228	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.S228S(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGTGCCCTCGGGCCGAGCAG	0.597000													4	37					0	0	0.000602	0	0
DENND2A	27147	broad.mit.edu	37	7	140287523	140287523	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:140287523G>T	ENST00000275884.6	-	3	1470	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	DENND2A_ENST00000537639.1_Missense_Mutation_p.D351E|DENND2A_ENST00000496613.1_Missense_Mutation_p.D351E|DENND2A_ENST00000492720.1_Missense_Mutation_p.D351E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	351								p.D351E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCGCGTACCAGTCCACCCTGC	0.483000													21	70					2.21704e-12	3.36089e-12	0.002780	1	0
PTBP2	58155	broad.mit.edu	37	1	97235307	97235307	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:97235307G>C	ENST00000236228.6	+	4	246	c.164G>C	c.(163-165)gGt>gCt	p.G55A	PTBP2_ENST00000426398.2_Missense_Mutation_p.G55A|PTBP2_ENST00000541987.1_Missense_Mutation_p.G24A|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.G55A|PTBP2_ENST00000394184.3_Missense_Mutation_p.G66A|PTBP2_ENST00000370198.1_Missense_Mutation_p.G55A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	55							nucleotide binding	p.G55A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AAAATGGATGGTGCTCCTTCT	0.333000													22	102					0	0	0.003330	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874005	144874005	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:144874005G>C	ENST00000369359.4	-	34	5398	c.5360C>G	c.(5359-5361)tCt>tGt	p.S1787C	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1607C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1651C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1651C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1651					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S1651C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACACAGCAGAATGACTCGA	0.453000			T	PDGFRB	MPD								12	602					0	0	0.001368	0	0
SAGE1	55511	broad.mit.edu	37	X	134990365	134990365	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:134990365C>G	ENST00000535938.1	+	11	1444	c.1277C>G	c.(1276-1278)cCa>cGa	p.P426R	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.P426R|SAGE1_ENST00000324447.3_Missense_Mutation_p.P426R	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	426								p.P426R(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTGGTATTCCACCCATGAGT	0.418000													56	93					0	0	0.003610	0	0
ABI1	10006	broad.mit.edu	37	10	27112235	27112235	+	Splice_Site	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:27112235C>T	ENST00000355394.4	-	2	341		c.e2-1		ABI1_ENST00000376160.1_Splice_Site|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000490841.2_Splice_Site|ABI1_ENST00000536334.1_Splice_Site|ABI1_ENST00000376166.1_Splice_Site|ABI1_ENST00000376138.3_Splice_Site|ABI1_ENST00000376134.3_Splice_Site|ABI1_ENST00000376170.4_Splice_Site|ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000359188.4_Splice_Site|ABI1_ENST00000376139.2_Splice_Site|ABI1_ENST00000376140.3_Splice_Site|ABI1_ENST00000376137.4_Splice_Site			Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTGTAGCCTGAAATAAGA	0.299000													5	39					0	0	0.000602	0	0
HERC2	8924	broad.mit.edu	37	15	28478365	28478365	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:28478365A>G	ENST00000261609.7	-	30	4710	c.4602T>C	c.(4600-4602)ttT>ttC	p.F1534F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1534					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.F1534F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTAACAATTTAAACTTAGACA	0.393000													7	83					0	0	0.006214	0	0
SSH3	54961	broad.mit.edu	37	11	67075137	67075137	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:67075137G>A	ENST00000308127.4	+	7	898	c.720G>A	c.(718-720)caG>caA	p.Q240Q	SSH3_ENST00000376757.5_Silent_p.Q240Q|SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Silent_p.Q240Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	240					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q240Q(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACTCCGAACAGAGCTGCCTCA	0.652000													4	47					0	0	0.009096	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121698978	121698978	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:121698978C>A	ENST00000393386.2	+	28	7064	c.6653C>A	c.(6652-6654)cCt>cAt	p.P2218H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1351H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2218	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P2218H(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGGATGGGCCTATGATTGTT	0.378000													13	61					4.3838e-07	5.70294e-07	0.001855	1	0
CENPT	80152	broad.mit.edu	37	16	67862182	67862182	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:67862182G>T	ENST00000562787.1	-	16	2222	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	CENPT_ENST00000440851.2_Missense_Mutation_p.F558L|CENPT_ENST00000564817.1_Missense_Mutation_p.F503L|CENPT_ENST00000219172.3_Missense_Mutation_p.F558L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	558					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.F558L(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		ACTGGGCAGGGAAGACAGAGT	0.607000													10	30					1.58986e-06	2.02518e-06	0.008291	1	0
LRRC8E	80131	broad.mit.edu	37	19	7965131	7965131	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:7965131T>C	ENST00000539278.1	-	1	3296	c.136A>G	c.(136-138)Agg>Ggg	p.R46G	LRRC8E_ENST00000306708.6_Missense_Mutation_p.L575P														p.L575P(1)									CTGGTTGCCCTGAACAGCCTC	0.672000													3	39					0	0	0.000602	0	0
EPHA6	285220	broad.mit.edu	37	3	96706224	96706224	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:96706224C>T	ENST00000389672.5	+	3	539	c.501C>T	c.(499-501)taC>taT	p.Y167Y	EPHA6_ENST00000470610.2_Silent_p.Y167Y|EPHA6_ENST00000542517.1_Silent_p.Y73Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	72	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.Y73*(4)|p.Y73Y(2)|p.Y167Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCACACATACCAGGTATGTA	0.373000													7	146					0	0	0.001984	0	0
VWA7	80737	broad.mit.edu	37	6	31734330	31734330	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:31734330G>C	ENST00000375686.3	-	14	2331	c.2094C>G	c.(2092-2094)ttC>ttG	p.F698L	VWA7_ENST00000375688.4_Missense_Mutation_p.F698L|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	698						extracellular region		p.F698L(1)									GCTCCAGGGAGAAGGGTCTAG	0.687000													4	31					0	0	0.009096	0	0
DHX9	1660	broad.mit.edu	37	1	182835642	182835642	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:182835642G>C	ENST00000367549.3	+	13	1506	c.1396G>C	c.(1396-1398)Gga>Cga	p.G466R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	466	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.G466R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGAAGAGCCTGGAAAAAGCTG	0.413000													14	184					0	0	0.002450	0	0
PREPL	9581	broad.mit.edu	37	2	44571703	44571703	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:44571703T>A	ENST00000541738.1	-	3	484	c.98A>T	c.(97-99)tAt>tTt	p.Y33F	PREPL_ENST00000540817.1_Intron|PREPL_ENST00000409411.1_Missense_Mutation_p.Y33F|PREPL_ENST00000409957.1_Missense_Mutation_p.Y33F|PREPL_ENST00000378511.3_Missense_Mutation_p.Y122F|PREPL_ENST00000260648.6_Missense_Mutation_p.Y122F|PREPL_ENST00000409272.1_Missense_Mutation_p.Y122F|PREPL_ENST00000409936.1_Missense_Mutation_p.Y122F|PREPL_ENST00000410081.1_Missense_Mutation_p.Y122F|PREPL_ENST00000378520.3_Missense_Mutation_p.Y122F	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	122					proteolysis	cytosol	serine-type endopeptidase activity	p.Y122F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCTTGGTAATAAACAAAACC	0.299000													5	24					0	0	0.001984	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995652	57995652	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:57995652G>T	ENST00000316770.2	-	1	738	c.696C>A	c.(694-696)agC>agA	p.S232R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S232R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAGAACGGATGCTCAGGATGG	0.622000													5	38					5.9392e-07	7.70296e-07	0.001168	1	0
IGSF8	93185	broad.mit.edu	37	1	160064700	160064700	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:160064700G>A	ENST00000368086.1	-	2	617	c.401C>T	c.(400-402)aCc>aTc	p.T134I	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.T134I			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	134	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.T134I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGTAGCGGGTATCAGTGGA	0.632000													4	19					0	0	0.009096	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713752	32713752	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:32713752C>T	ENST00000374940.3	+	3	618	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.F172F(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTCCTTCTTCAAGATCAGTT	0.512000													8	211					0	0	0.004482	0	0
MAN2A1	4124	broad.mit.edu	37	5	109065175	109065175	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:109065175G>T	ENST00000261483.4	+	4	1720	c.668G>T	c.(667-669)tGg>tTg	p.W223L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	223					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.W223L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCAAAGTGGTGGGATATTATA	0.313000													16	79					6.49762e-13	9.90848e-13	0.006122	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616468	77616468	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:77616468G>C	ENST00000521891.2	+	2	593	c.145G>C	c.(145-147)Gac>Cac	p.D49H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D49H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D49H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D49H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D49H(1)		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)			CTCCACAGATGACAACCTGAA	0.502000										HNSCC(33;0.089)			3	30					0	0	0.004672	0	0
IL2RB	3560	broad.mit.edu	37	22	37524342	37524342	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:37524342C>G	ENST00000216223.5	-	10	1648	c.1450G>C	c.(1450-1452)Gat>Cat	p.D484H		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	484					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.D484H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGCTGAAAATCCACCAGGTCT	0.662000													5	33					0	0	0.001168	0	0
COL14A1	7373	broad.mit.edu	37	8	121224717	121224717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:121224717G>T	ENST00000297848.3	+	13	1768	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*	COL14A1_ENST00000537875.1_Nonsense_Mutation_p.E500*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.E500*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.E405*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	500	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.E500*(1)		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)			CACAGATATTGAATTGAGTGG	0.398000													8	33					5.18039e-06	6.43913e-06	0.003080	1	0
USH2A	7399	broad.mit.edu	37	1	216420371	216420371	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:216420371C>G	ENST00000366943.2	-	13	2751	c.2365G>C	c.(2365-2367)Gtc>Ctc	p.V789L	USH2A_ENST00000366942.3_Missense_Mutation_p.V789L|USH2A_ENST00000307340.3_Missense_Mutation_p.V789L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	789	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V789L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATTGGTGACATCTAACCCA	0.478000										HNSCC(13;0.011)			8	77					0	0	0.004482	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744161	31744161	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:31744161G>T	ENST00000399889.2	-	1	396	c.371C>A	c.(370-372)tCc>tAc	p.S124Y		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	124						intermediate filament		p.S124*(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GACACCACTGGACCCACAGCC	0.582000													10	28					3.86212e-05	4.61728e-05	0.008291	1	0
LPCAT2	54947	broad.mit.edu	37	16	55543151	55543151	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:55543151G>T	ENST00000262134.5	+	1	242	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	20					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	p.G20W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TGCCGGCGTCGGGAACGTGGG	0.726000													3	5					0.004672	0.00512284	0.004672	1	0
AURKA	6790	broad.mit.edu	37	20	54948488	54948488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:54948488C>A	ENST00000395909.4	-	9	1395	c.830G>T	c.(829-831)tGg>tTg	p.W277L	AURKA_ENST00000395915.3_Missense_Mutation_p.W277L|AURKA_ENST00000371356.2_Missense_Mutation_p.W277L|AURKA_ENST00000395907.1_Missense_Mutation_p.W277L|AURKA_ENST00000347343.2_Missense_Mutation_p.W277L|AURKA_ENST00000312783.6_Missense_Mutation_p.W277L|AURKA_ENST00000395911.1_Missense_Mutation_p.W277L|AURKA_ENST00000395913.3_Missense_Mutation_p.W277L|AURKA_ENST00000395914.1_Missense_Mutation_p.W277L	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	277	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	p.W277L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			ATGTACTGACCACCCAAAATC	0.408000													4	64					0.000602214	0.000681872	0.000602	1	0
EMX1	2016	broad.mit.edu	37	2	73160986	73160986	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:73160986C>A	ENST00000258106.6	+	3	1154	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S259Y(1)		cervix(1)|large_intestine(2)|lung(3)	6						GGGCCTGAGTCCGAGCAGAAG	0.587000													11	29					0.000978159	0.00109979	0.000978	1	0
FAM20B	9917	broad.mit.edu	37	1	179033164	179033164	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:179033164C>T	ENST00000263733.4	+	5	1013	c.677C>T	c.(676-678)cCa>cTa	p.P226L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	226						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	p.P226L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTTTGGCTTCCAGATGTGTGG	0.473000													26	65					0	0	0.003954	0	0
ZNF257	113835	broad.mit.edu	37	19	22271616	22271616	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:22271616G>A	ENST00000594947.1	+	4	1208	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	355				R -> G (in Ref. 4; AAH36446).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R355Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTTAACCGGTCTTCACAC	0.418000													6	54					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237780726	237780726	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:237780726C>T	ENST00000366574.2	+	38	6173	c.5856C>T	c.(5854-5856)aaC>aaT	p.N1952N	RYR2_ENST00000542537.1_Silent_p.N1936N|RYR2_ENST00000360064.6_Silent_p.N1950N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1952	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.N1950N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCTTAAACATGTCAGCTG	0.423000													21	54					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	94084637	94084637	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:94084637G>C	ENST00000553484.1	+	30	4544	c.4390G>C	c.(4390-4392)Gcc>Ccc	p.A1464P	UNC79_ENST00000555664.1_Missense_Mutation_p.A1442P|UNC79_ENST00000393151.2_Missense_Mutation_p.A1442P|UNC79_ENST00000256339.4_Missense_Mutation_p.A1265P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1442						integral to membrane		p.A1464P(1)|p.A1265P(1)		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						CAAGCCCCATGCCACGGCAGG	0.423000													6	32					0	0	0.001984	0	0
KLHL42	57542	broad.mit.edu	37	12	27933771	27933771	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:27933771G>T	ENST00000381271.2	+	1	819	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42									p.G170W(1)									CCACCTCCTGGGGTCTCCTCC	0.667000													13	32					2.68362e-12	4.05384e-12	0.001368	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657736	72657736	+	RNA	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:72657736G>C	ENST00000425256.1	-	0	2175					NR_002164.1																						gggtgggaaagtgggccagat	0.493000													10	215					0	0	0.003163	0	0
INTS1	26173	broad.mit.edu	37	7	1538937	1538937	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:1538937C>G	ENST00000389470.4	-	8	1287	c.1288G>C	c.(1288-1290)Gcg>Ccg	p.A430P	INTS1_ENST00000404767.3_Missense_Mutation_p.A302P			Q8N201	INT1_HUMAN	integrator complex subunit 1	302					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A430P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTCTCCTCCGCGATCAGCAAC	0.711000													20	103					0	0	0.002780	0	0
SETBP1	26040	broad.mit.edu	37	18	42532591	42532591	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:42532591C>A	ENST00000282030.5	+	4	3582	c.3286C>A	c.(3286-3288)Cac>Aac	p.H1096N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1096						nucleus	DNA binding	p.F1095_H1096>LN(1)|p.F1041_H1042>LN(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTCAGTTCCACACAAACTC	0.532000									Schinzel-Giedion syndrome				18	30					1.2644e-06	1.62025e-06	0.010504	1	0
ZNF385D	79750	broad.mit.edu	37	3	21462738	21462738	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:21462738C>T	ENST00000281523.2	-	8	1674	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	386			A -> T (in a colorectal cancer sample; somatic mutation).			nucleus	nucleic acid binding|zinc ion binding	p.A386T(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGTGTGGGCGGTCCGAATG	0.473000													8	20					0	0	0.004482	0	0
UBXN1	51035	broad.mit.edu	37	11	62445448	62445448	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:62445448G>A	ENST00000294119.2	-	5	564	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	UBXN1_ENST00000529640.1_Missense_Mutation_p.R145W|UBXN1_ENST00000533000.1_Missense_Mutation_p.R3W|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.R145W	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	145	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.R145W(1)		endometrium(5)|lung(12)	17						TCAGCAGCCCGGCGCATCTCA	0.567000													17	29					0	0	0.006122	0	0
SLC10A7	84068	broad.mit.edu	37	4	147215233	147215233	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:147215233G>A	ENST00000432059.2	-	7	777	c.531C>T	c.(529-531)taC>taT	p.Y177Y	SLC10A7_ENST00000335472.7_Silent_p.Y190Y|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Silent_p.Y190Y|SLC10A7_ENST00000394062.3_Silent_p.Y190Y			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	190						integral to membrane	bile acid:sodium symporter activity	p.Y190Y(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AATCCTTGATGTATCTTCGGA	0.433000													5	14					0	0	0.001984	0	0
FAM177B	400823	broad.mit.edu	37	1	222920374	222920374	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:222920374G>T	ENST00000445590.2	+	4	458	c.192G>T	c.(190-192)ggG>ggT	p.G64G	FAM177B_ENST00000360827.2_Silent_p.G64G	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	64								p.G64G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TTTCCTGGGGGCCCTACCTAC	0.348000													28	69					8.16721e-17	1.33249e-16	0.002096	1	0
MMP1	4312	broad.mit.edu	37	11	102666207	102666207	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:102666207T>A	ENST00000315274.6	-	5	824	c.757A>T	c.(757-759)Att>Ttt	p.I253F	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	253	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.I253F(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATGCCATCAATGTCATCCTGA	0.453000													8	46					0	0	0.004482	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121927	62121927	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:62121927C>A	ENST00000217182.3	-	6	1099	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	EEF1A2_ENST00000298049.7_Missense_Mutation_p.V312L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	312						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V312L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ACGTTCTTCACATTGAAGCCG	0.612000													15	75					1.02788e-11	1.52578e-11	0.004990	1	0
ITIH1	3697	broad.mit.edu	37	3	52822006	52822006	+	Missense_Mutation	SNP	C	C	G	rs145881645	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:52822006C>G	ENST00000273283.2	+	17	1953	c.1929C>G	c.(1927-1929)ttC>ttG	p.F643L	ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000405128.3_Missense_Mutation_p.F9L|ITIH1_ENST00000540715.1_Missense_Mutation_p.F501L|ITIH1_ENST00000537050.1_Missense_Mutation_p.F355L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	643	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.F643L(1)|p.F643F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CATCAGCGTTCGTGCTGTCAG	0.612000													10	52					0	0	0.000978	0	0
TMTC3	160418	broad.mit.edu	37	12	88568469	88568469	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:88568469G>C	ENST00000266712.6	+	9	1505	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	429						integral to membrane	binding	p.E429Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTGGGATTGGGAGTCTGAATA	0.348000													16	84					0	0	0.004007	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501444	107501444	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:107501444C>G	ENST00000265840.7	+	4	447	c.182C>G	c.(181-183)tCt>tGt	p.S61C	ELMOD1_ENST00000443271.2_Missense_Mutation_p.S61C|ELMOD1_ENST00000531234.1_Missense_Mutation_p.S55C	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	61					phagocytosis	cytoskeleton	GTPase activator activity	p.S61C(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGAGGGATTCTAAAAGTAAG	0.303000													7	18					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82764747	82764747	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:82764747C>G	ENST00000423517.2	-	3	2456	c.2119G>C	c.(2119-2121)Gtg>Ctg	p.V707L	PCLO_ENST00000333891.8_Missense_Mutation_p.V707L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	653	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V707L(2)|p.V653L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTCACTAGTGGTGGT	0.537000													21	74					0	0	0.001882	0	0
XIRP2	129446	broad.mit.edu	37	2	168106954	168106954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:168106954C>T	ENST00000409195.1	+	9	9141	c.9052C>T	c.(9052-9054)Caa>Taa	p.Q3018*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q2796*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q3018*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2843					actin cytoskeleton organization	cell junction	actin binding	p.Q3018*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATTAAAACTCAAGCGGAAGA	0.353000													5	112					0	0	0.000602	0	0
DUSP27	92235	broad.mit.edu	37	1	167083011	167083011	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:167083011G>T	ENST00000361200.2	+	3	341	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S	DUSP27_ENST00000443333.1_Missense_Mutation_p.A59S|DUSP27_ENST00000271385.5_Missense_Mutation_p.A59S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	59					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.A59S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCTCCTCAGCCATTGCAGC	0.468000													57	176					3.8688e-20	6.51909e-20	0.003610	1	0
KIF1C	10749	broad.mit.edu	37	17	4905404	4905404	+	Silent	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:4905404A>C	ENST00000320785.5	+	6	771	c.414A>C	c.(412-414)ctA>ctC	p.L138L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	138	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.L138L(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GTGCTCAGCTATCCTACTCTG	0.577000													4	73					0	0	0.001168	0	0
CXXC11	285093	broad.mit.edu	37	2	242815036	242815036	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:242815036G>C	ENST00000343216.3	+	2	1357	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	443						integral to membrane		p.E443D(1)									AAGGCAAAGAGAAGGAAGGTG	0.622000													4	39					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158614185	158614185	+	Splice_Site	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:158614185A>G	ENST00000368148.3	-	30	4376	c.4194_splice	c.e30-1	p.M1399_splice	SPTA1_ENST00000368147.3_Splice_Site_p.M1399_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.M1399T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCTGGAACATCTATGAGGA	0.458000													9	68					0	0	0.006214	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845680	106845680	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:106845680C>T	ENST00000276185.4	+	16	4510	c.4510C>T	c.(4510-4512)Ctg>Ttg	p.L1504L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1504						cytoskeleton		p.L1504L(1)|p.L1553L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CGTGTTCTCACTGCCCGAGGA	0.602000													9	59					0	0	0.006214	0	0
OR14A16	284532	broad.mit.edu	37	1	247978357	247978357	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:247978357C>A	ENST00000357627.1	-	1	674	c.675G>T	c.(673-675)aaG>aaT	p.K225N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K225N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGGAAGGGATCTTCTTGACTG	0.393000													13	38					0.00498961	0.00546643	0.004990	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652668	121652668	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:121652668G>A	ENST00000393386.2	+	12	3979	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1190					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D1190N(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCAGGCTTCTGATGTTGACAC	0.383000													11	164					0	0	0.000978	0	0
MTA3	57504	broad.mit.edu	37	2	42836680	42836680	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:42836680C>G	ENST00000405592.1	+	5	775	c.105C>G	c.(103-105)ctC>ctG	p.L35L	MTA3_ENST00000407270.3_Silent_p.L91L|MTA3_ENST00000406911.1_Silent_p.L91L|MTA3_ENST00000405094.1_Silent_p.L91L|MTA3_ENST00000406652.1_Silent_p.L35L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	91	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L91L(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATAGGGAACTCTTTTTGTCAC	0.383000													12	95					0	0	0.000978	0	0
FAM171B	165215	broad.mit.edu	37	2	187615999	187615999	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:187615999G>C	ENST00000304698.5	+	5	1066	c.863G>C	c.(862-864)cGc>cCc	p.R288P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	288						integral to membrane	DNA binding	p.R288P(1)|p.R288H(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCAGGGGATCGCATACCTGCT	0.358000													7	96					0	0	0.001984	0	0
PLA2G7	7941	broad.mit.edu	37	6	46680036	46680036	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:46680036T>C	ENST00000274793.7	-	6	705	c.509A>G	c.(508-510)cAt>cGt	p.H170R	PLA2G7_ENST00000537365.1_Missense_Mutation_p.H170R|PLA2G7_ENST00000538237.1_Missense_Mutation_p.H125R|PLA2G7_ENST00000541026.1_Missense_Mutation_p.H43R	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	170					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.H170R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TATAAACCCATGAGATGCCAG	0.403000													6	77					0	0	0.003080	0	0
KCTD8	386617	broad.mit.edu	37	4	44176975	44176975	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:44176975G>T	ENST00000360029.3	-	2	1537	c.1254C>A	c.(1252-1254)agC>agA	p.S418R		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	418						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S418R(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CCCGGGACTTGCTGATGAGGG	0.408000										HNSCC(17;0.042)			70	262					1.8615e-32	3.26525e-32	0.003610	1	0
CLCA1	1179	broad.mit.edu	37	1	86952403	86952403	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:86952403G>T	ENST00000234701.3	+	8	1500	c.1149G>T	c.(1147-1149)acG>acT	p.T383T	CLCA1_ENST00000394711.1_Silent_p.T383T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	383	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.T383T(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAGGAGGGACGTCCATCTGCA	0.438000													11	70					6.31663e-08	8.40471e-08	0.003163	1	0
RYR2	6262	broad.mit.edu	37	1	237666760	237666760	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:237666760C>A	ENST00000366574.2	+	22	2885	c.2568C>A	c.(2566-2568)tcC>tcA	p.S856S	RYR2_ENST00000542537.1_Silent_p.S840S|RYR2_ENST00000360064.6_Silent_p.S854S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	856	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S854S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCACAGTTTCCCTGACGCAAG	0.502000													8	76					0.000978159	0.00109979	0.000978	1	0
RBM6	10180	broad.mit.edu	37	3	50114546	50114546	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:50114546C>A	ENST00000443081.1	+	21	3875	c.2956C>A	c.(2956-2958)Cga>Aga	p.R986R	RBM6_ENST00000266022.4_Silent_p.R1118R|RBM6_ENST00000422955.1_Silent_p.R596R|RBM6_ENST00000442092.1_Silent_p.R596R|RBM6_ENST00000421682.1_Silent_p.R114R|RBM6_ENST00000539992.1_Silent_p.R460R			P78332	RBM6_HUMAN	RNA binding motif protein 6	1118					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R1118R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CATGTTTGCTCGATATAAAGA	0.463000													3	42					0.00909568	0.0098639	0.009096	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290747	20290747	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:20290747G>T	ENST00000377252.3	+	2	997	c.156G>T	c.(154-156)gaG>gaT	p.E52D	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E52D	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	52						integral to membrane		p.E52D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACACAGAGGAGGAGGTGGAAG	0.478000													8	28					0.000274275	0.000314437	0.004482	1	0
POP1	10940	broad.mit.edu	37	8	99169968	99169968	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:99169968C>G	ENST00000401707.2	+	16	2625	c.2544C>G	c.(2542-2544)atC>atG	p.I848M	POP1_ENST00000349693.3_Missense_Mutation_p.I848M	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	848					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.I848M(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCTGTCCATCTTGGGCCACT	0.647000													7	49					0	0	0.004482	0	0
DHX37	57647	broad.mit.edu	37	12	125441676	125441676	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:125441676G>A	ENST00000308736.2	-	17	2261	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	DHX37_ENST00000544745.1_Silent_p.I508I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	721							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I721I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGGGAAGTTGATGACCTGGG	0.627000													31	58					0	0	0.009535	0	0
C8A	731	broad.mit.edu	37	1	57341792	57341792	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:57341792C>G	ENST00000361249.3	+	4	470	c.374C>G	c.(373-375)tCt>tGt	p.S125C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	125	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S125C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTGATGGCTCTGATGAGGAC	0.567000													6	34					0	0	0.001168	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119932	55119932	+	Splice_Site	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:55119932A>G	ENST00000370862.3	+	3	738		c.e3-1			NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2						feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTTTTCTCTAGACCGTGTCG	0.398000													14	33					0	0	0.003163	0	0
LPP	4026	broad.mit.edu	37	3	188583987	188583987	+	Splice_Site	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:188583987G>C	ENST00000312675.4	+	9	1656		c.e9-1		LPP_ENST00000543006.1_Splice_Site	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma						cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.?(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTTCCCCAGAATACTCTGG	0.512000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								8	70					0	0	0.003080	0	0
ATP1B4	23439	broad.mit.edu	37	X	119510248	119510248	+	Missense_Mutation	SNP	G	G	T	rs143954745	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:119510248G>T	ENST00000218008.3	+	6	830	c.773G>T	c.(772-774)cGt>cTt	p.R258L	ATP1B4_ENST00000539306.1_Missense_Mutation_p.R215L|ATP1B4_ENST00000361319.3_Missense_Mutation_p.R254L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	258					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R254H(1)|p.R254L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GTAGGCTTTCGTCCTGAGCTT	0.363000													6	61					0.000274275	0.000314437	0.004482	1	0
TNN	63923	broad.mit.edu	37	1	175048554	175048554	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:175048554C>T	ENST00000239462.4	+	3	608	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	165					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A165A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGGCCCCGCCTGCGAGCGGC	0.726000													3	4					0	0	0.004672	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815727	23815727	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:23815727G>T	ENST00000264867.2	-	8	1498	c.1379C>A	c.(1378-1380)gCc>gAc	p.A460D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	460					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.A460D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTCAGCTCGGCTCGGATTTC	0.498000													15	55					2.31682e-05	2.80113e-05	0.003163	1	0
SI	6476	broad.mit.edu	37	3	164748573	164748573	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:164748573C>A	ENST00000264382.3	-	25	2881	c.2819G>T	c.(2818-2820)aGa>aTa	p.R940I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	940	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R940I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACAATTAAATCTTTCATTTTC	0.318000										HNSCC(35;0.089)			38	76					6.97489e-18	1.15261e-17	0.004878	1	0
OR1F2P	26184	broad.mit.edu	37	16	3265901	3265901	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:3265901C>A	ENST00000576468.1	+	0	418																											CTGGCTGTCTCATGCAGATGT	0.512000													8	24					0.00307968	0.00340302	0.003080	1	0
JARID2	3720	broad.mit.edu	37	6	15501370	15501370	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:15501370G>T	ENST00000341776.2	+	8	2422	c.2178G>T	c.(2176-2178)gaG>gaT	p.E726D	JARID2_ENST00000541660.1_Missense_Mutation_p.E688D|JARID2_ENST00000397311.3_Missense_Mutation_p.E554D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	726					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.E726D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTGATGGAGAAGGAGATCC	0.632000													13	125					1.05317e-09	1.48113e-09	0.002450	1	0
DNAH8	1769	broad.mit.edu	37	6	38747767	38747767	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:38747767C>T	ENST00000359357.3	+	13	1668	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	DNAH8_ENST00000449981.2_Silent_p.L689L|DNAH8_ENST00000441566.1_Silent_p.L472L					dynein, axonemal, heavy chain 8									p.L472L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATTCCCTGTCTGGGATTAGA	0.338000													7	46					0	0	0.001984	0	0
AMPH	273	broad.mit.edu	37	7	38424457	38424457	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:38424457C>G	ENST00000356264.2	-	21	2265	c.2050G>C	c.(2050-2052)Ggc>Cgc	p.G684R	AMPH_ENST00000428293.2_Missense_Mutation_p.G642R|AMPH_ENST00000325590.5_Missense_Mutation_p.G642R	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	684	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.G684R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGAAAGAGGCCTTTGTAGGTG	0.483000													34	110					0	0	0.004289	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805970	169805970	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:169805970T>A	ENST00000274629.4	-	4	756	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	105					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.Y105F(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GCCTGGGATGTAGGAGCACTG	0.522000													9	41					0	0	0.004482	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695480	100695480	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:100695480C>A	ENST00000268070.4	-	9	1332	c.1227G>T	c.(1225-1227)agG>agT	p.R409S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	409	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R409S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGATGTGGGACCTGCCAGCGC	0.527000													9	32					5.4927e-09	7.5672e-09	0.004482	1	0
JMJD1C	221037	broad.mit.edu	37	10	64967837	64967837	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:64967837G>T	ENST00000399262.2	-	10	3810	c.3592C>A	c.(3592-3594)Cgc>Agc	p.R1198S	JMJD1C_ENST00000402544.1_Missense_Mutation_p.R979S|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R979S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1016S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1198					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.R979S(2)|p.R1198S(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCATACTGCGGAGTGTATTT	0.438000													19	128					4.96729e-08	6.62994e-08	0.008871	1	0
CHD5	26038	broad.mit.edu	37	1	6206332	6206332	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:6206332C>A	ENST00000262450.3	-	11	1841	c.1742G>T	c.(1741-1743)cGc>cTc	p.R581L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	581					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.R581L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGGTAGAAGCGCTCCTCCAT	0.587000													8	114					0.00621372	0.00679014	0.006214	1	0
TNFSF18	8995	broad.mit.edu	37	1	173010824	173010824	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:173010824A>T	ENST00000404377.3	-	3	283	c.283T>A	c.(283-285)Tct>Act	p.S95T	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.S73T	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	95					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.S73T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGTTCAGAAGATGCCATTTGC	0.368000													45	122					0	0	0.003610	0	0
PHF14	9678	broad.mit.edu	37	7	11068308	11068308	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:11068308G>T	ENST00000403050.3	+	7	1770	c.1317_splice	c.e7-1	p.E440_splice	PHF14_ENST00000445996.2_Splice_Site_p.E155_splice	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	440							zinc ion binding	p.E440*(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTTGTTGTAGGAGTGTAGCTT	0.393000													8	41					0.000274275	0.000314437	0.004482	1	0
TFCP2L1	29842	broad.mit.edu	37	2	121991727	121991727	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:121991727C>G	ENST00000263707.5	-	12	1235	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	380					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E380Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CGATTCTGCTCCAGCTCCTGA	0.537000													7	83					0	0	0.003080	0	0
EIF3A	8661	broad.mit.edu	37	10	120832466	120832466	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:120832466C>A	ENST00000369144.3	-	4	604	c.477G>T	c.(475-477)caG>caT	p.Q159H	EIF3A_ENST00000541549.1_Missense_Mutation_p.Q125H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	159					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.Q159H(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GGTCCAAACACTGCCTGTAAG	0.428000													4	93					0.00024832	0.000285958	0.009096	1	0
BCAS3	54828	broad.mit.edu	37	17	59115345	59115345	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:59115345G>A	ENST00000589222.1	+	18	1926	c.1858G>A	c.(1858-1860)Gca>Aca	p.A620T	BCAS3_ENST00000585744.1_Missense_Mutation_p.A406T|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Missense_Mutation_p.A635T|BCAS3_ENST00000408905.3_Missense_Mutation_p.A620T|BCAS3_ENST00000588462.1_Missense_Mutation_p.A635T|BCAS3_ENST00000588874.1_Missense_Mutation_p.A391T|BCAS3_ENST00000407086.3_Missense_Mutation_p.A620T			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	635						nucleus		p.A635T(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCTCAGCACTGCACCCAAGAT	0.463000													19	99					0	0	0.006122	0	0
ZNF343	79175	broad.mit.edu	37	20	2464766	2464766	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:2464766T>C	ENST00000278772.4	-	6	1328	c.841A>G	c.(841-843)Aga>Gga	p.R281G	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R281G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGGGTTGATCTATCTTTAAAG	0.483000													22	77					0	0	0.003330	0	0
MICALL2	79778	broad.mit.edu	37	7	1476417	1476417	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:1476417C>A	ENST00000297508.7	-	15	2727	c.2552G>T	c.(2551-2553)cGc>cTc	p.R851L	MICALL2_ENST00000405088.4_Missense_Mutation_p.R639L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	851						cytoplasm|cytoskeleton	zinc ion binding	p.R851L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GATGTCACTGCGGTCGTTCAC	0.692000													7	34					5.4927e-09	7.5672e-09	0.004482	1	0
KCNA3	3738	broad.mit.edu	37	1	111216070	111216070	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:111216070G>T	ENST00000369769.2	-	1	1585	c.1362C>A	c.(1360-1362)acC>acA	p.T454T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	454						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I455L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCCCCTATGGTCACTGGGT	0.537000													7	40					8.12818e-05	9.56608e-05	0.001984	1	0
RP1L1	94137	broad.mit.edu	37	8	10466200	10466200	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:10466200G>T	ENST00000382483.3	-	4	5631	c.5408C>A	c.(5407-5409)aCt>aAt	p.T1803N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1803					intracellular signal transduction			p.T1803N(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTGACCCCCAGTTTCTCCCCT	0.577000													32	134					2.08457e-15	3.33323e-15	0.002096	1	0
SPEN	23013	broad.mit.edu	37	1	16257830	16257830	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:16257830C>G	ENST00000375759.3	+	11	5299	c.5095C>G	c.(5095-5097)Caa>Gaa	p.Q1699E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1699					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.Q1699E(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACAGCTGGAACAAGTAGACCT	0.557000													20	107					0	0	0.007413	0	0
MED17	9440	broad.mit.edu	37	11	93542890	93542890	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:93542890A>T	ENST00000251871.3	+	11	1879	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	531				Q -> H (in Ref. 6; AAD12723).	androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Q531L(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTCACAGCACCAGGTA	0.463000													16	122					0	0	0.004990	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810536	65810536	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:65810536C>A	ENST00000312006.4	-	3	1019	c.738G>T	c.(736-738)gaG>gaT	p.E246D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E246D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	246					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.E246D(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCACTAGCGACTCGTCGAAGT	0.692000													13	57					5.50884e-06	6.82097e-06	0.001368	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137814	40137814	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:40137814T>A	ENST00000278198.2	-	2	1992	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	LRRC4C_ENST00000527150.1_Missense_Mutation_p.Q10L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.Q10L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.Q10L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	10					regulation of axonogenesis	integral to membrane	protein binding	p.Q10L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CATTATCTGCTGTGGATGTAA	0.438000													5	30					0	0	0.000602	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965181	88965181	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:88965181C>T	ENST00000333190.4	+	4	3494	c.2885C>T	c.(2884-2886)cCa>cTa	p.P962L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	962						intracellular	zinc ion binding	p.P962L(1)|p.P962Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCGCAAGTCCCATGCACAATT	0.388000										HNSCC(36;0.09)			31	112					0	0	0.002836	0	0
PKHD1	5314	broad.mit.edu	37	6	51524450	51524450	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:51524450A>C	ENST00000371117.3	-	61	10749	c.10474T>G	c.(10474-10476)Tcc>Gcc	p.S3492A		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3492					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3492A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAGCTTGGAGGTACTTTTG	0.443000													5	66					0	0	0.001168	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37281631	37281631	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:37281631G>A	ENST00000373491.3	+	10	1275	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	377	Rab-GAP TBC.			KVK -> HEE (in Ref. 3; AAH00291).		intracellular	Rab GTPase activator activity	p.V377M(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CCAGAAGAAGGTGAAGGCACT	0.463000													46	109					0	0	0.003610	0	0
ISLR	3671	broad.mit.edu	37	15	74467295	74467295	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:74467295G>C	ENST00000249842.3	+	2	453	c.96G>C	c.(94-96)caG>caC	p.Q32H	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.Q32H	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	32	LRRNT.				cell adhesion	extracellular region		p.Q32H(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ATGGCTTCCAGATCGCCGACT	0.642000													4	74					0	0	0.009096	0	0
MYO16	23026	broad.mit.edu	37	13	109777466	109777466	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:109777466G>A	ENST00000356711.2	+	30	3602	c.3476G>A	c.(3475-3477)aGa>aAa	p.R1159K	MYO16_ENST00000357550.2_Missense_Mutation_p.R1159K|MYO16_ENST00000457511.2_Missense_Mutation_p.R671K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1159	IQ.				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	p.R1159K(1)		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)			AAAGTTATCAGAGGATTTTTA	0.393000													8	23					0	0	0.004482	0	0
OR2G3	81469	broad.mit.edu	37	1	247769356	247769356	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:247769356C>T	ENST00000320002.2	+	1	501	c.469C>T	c.(469-471)Cta>Tta	p.L157L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCTAGTTCCCTAATCCATGC	0.483000													40	121					0	0	0.006999	0	0
ANXA13	312	broad.mit.edu	37	8	124696882	124696882	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:124696882T>A	ENST00000262219.6	-	11	989	c.922A>T	c.(922-924)Acg>Tcg	p.T308S	ANXA13_ENST00000419625.1_Missense_Mutation_p.T267S	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	267					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.T308S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAATCAACGTCTCCTCATCG	0.517000													22	90					0	0	0.002780	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55541105C>A	ENST00000361760.1	+	1	192	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000													14	74					1.3612e-06	1.73909e-06	0.003163	1	0
IGHD	3495	broad.mit.edu	37	14	106311789	106311789	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:106311789G>T	ENST00000390556.2	-	0	221																											CGCCACTGCTGGAGGGGGGTG	0.592000													12	46					7.03913e-09	9.65624e-09	0.001368	1	0
SUCO	51430	broad.mit.edu	37	1	172558474	172558474	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:172558474C>T	ENST00000367723.3	+	17	2813	c.2689C>T	c.(2689-2691)Cct>Tct	p.P897S	SUCO_ENST00000263688.3_Missense_Mutation_p.P745S	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.P745S(1)|p.P897S(1)									CAATCCCTTGCCTAAAATAGA	0.398000													5	65					0	0	0.000602	0	0
ZNF423	23090	broad.mit.edu	37	16	49671243	49671243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:49671243G>T	ENST00000561648.1	-	4	1873	c.1820C>A	c.(1819-1821)tCg>tAg	p.S607*	ZNF423_ENST00000262383.2_Nonsense_Mutation_p.S607*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.S547*|ZNF423_ENST00000562871.1_Nonsense_Mutation_p.S547*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.S490*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.S490*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.S547*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	607					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S607*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACATCGGACGAGACTGGGCT	0.557000													17	45					1.50039e-11	2.21692e-11	0.001882	1	0
EDEM2	55741	broad.mit.edu	37	20	33703557	33703557	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:33703557G>C	ENST00000374492.3	-	11	1521	c.1416C>G	c.(1414-1416)atC>atG	p.I472M	EDEM2_ENST00000542871.1_Missense_Mutation_p.I196M|EDEM2_ENST00000541621.1_Missense_Mutation_p.I251M|EDEM2_ENST00000374491.2_Missense_Mutation_p.I435M	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	472					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.I472M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGTGTTGAAGATGTACCCCC	0.582000													7	78					0	0	0.001984	0	0
DDX21	9188	broad.mit.edu	37	10	70733333	70733333	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:70733333G>T	ENST00000354185.4	+	10	1679	c.1581G>T	c.(1579-1581)cgG>cgT	p.R527R		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	527	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.R527R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GATCCGGGCGGACAGGCAGAG	0.433000													6	67					0.000157383	0.000183376	0.003080	1	0
GLTP	51228	broad.mit.edu	37	12	110290384	110290384	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:110290384G>T	ENST00000318348.4	-	5	719	c.606C>A	c.(604-606)aaC>aaA	p.N202K	GLTP_ENST00000544393.1_Missense_Mutation_p.N183K	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	202						cytoplasm	glycolipid binding|glycolipid transporter activity	p.N202K(1)		endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TAAGCTCAGCGTTCATCTGGG	0.522000											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	189					8.6838e-40	1.5337e-39	0.003610	1	0
LRCH1	23143	broad.mit.edu	37	13	47303002	47303002	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:47303002G>C	ENST00000311191.6	+	17	2014	c.1785G>C	c.(1783-1785)aaG>aaC	p.K595N	LRCH1_ENST00000389797.3_Missense_Mutation_p.K630N|LRCH1_ENST00000389798.3_Missense_Mutation_p.K595N	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	595	CH.							p.K595N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGAGATTGAAGGTCAGTCTAC	0.483000													19	57					0	0	0.010504	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468974	137468974	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:137468974A>C	ENST00000296980.2	-	6	827	c.527T>G	c.(526-528)gTa>gGa	p.V176G	IL22RA2_ENST00000349184.4_Missense_Mutation_p.V144G|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	176	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	p.V176G(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		ATGGAGAATTACCAACAAAGA	0.294000													5	166					0	0	0.000602	0	0
MYO7B	4648	broad.mit.edu	37	2	128354111	128354111	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:128354111C>T	ENST00000389524.4	+	19	2372	c.2319C>T	c.(2317-2319)gtC>gtT	p.V773V	MYO7B_ENST00000428314.1_Silent_p.V773V|MYO7B_ENST00000409816.2_Silent_p.V773V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	773	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.V773V(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCAGAAAGTCCTTCGGGGCT	0.622000													6	9					0	0	0.003080	0	0
LILRB5	10990	broad.mit.edu	37	19	54756398	54756398	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:54756398G>T	ENST00000450632.1	-	10	1539	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	LILRB5_ENST00000345866.6_Missense_Mutation_p.P397T|LILRB5_ENST00000449561.2_Missense_Mutation_p.P497T|LILRB5_ENST00000316219.5_Missense_Mutation_p.P496T			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	496					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.P496T(1)|p.P488S(1)|p.P496S(1)|p.P488T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCCTGCAGGACGGTAGAAA	0.597000													22	63					1.87028e-06	2.37767e-06	0.001882	1	0
STAM	8027	broad.mit.edu	37	10	17702489	17702489	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:17702489G>C	ENST00000377524.3	+	2	282	c.67G>C	c.(67-69)Gct>Cct	p.A23P	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	23	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.A23P(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GATGAATACTGCTGAGGACTG	0.348000													8	115					0	0	0.008291	0	0
EXD1	161829	broad.mit.edu	37	15	41487996	41487996	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:41487996G>T	ENST00000314992.5	-	7	713	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	EXD1_ENST00000458580.2_Missense_Mutation_p.L233M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	175					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.L175M(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ACATTATTCAGCAAAATTCCA	0.413000													3	20					0.00024832	0.000285958	0.009096	1	0
BTN1A1	696	broad.mit.edu	37	6	26509123	26509123	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:26509123C>G	ENST00000244513.6	+	7	1368	c.1302C>G	c.(1300-1302)tcC>tcG	p.S434S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	434	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity	p.S434S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GAGACATCTCCTTCTACAACA	0.522000													5	39					0	0	0.001168	0	0
CACNG1	786	broad.mit.edu	37	17	65040999	65040999	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:65040999C>G	ENST00000226021.3	+	1	294	c.223C>G	c.(223-225)Ccc>Gcc	p.P75A		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	75					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P75A(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CATCACCCTGCCCGGGGGTAA	0.642000													2	7					0	0	0.004672	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759041	121759041	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:121759041C>A	ENST00000261367.7	+	6	2178	c.750C>A	c.(748-750)aaC>aaA	p.N250K	SNCAIP_ENST00000261368.8_Missense_Mutation_p.N203K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.N203K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.N250K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.N250K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	203					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.N250K(2)|p.N203K(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CATCATCCAACATGGCACCAT	0.468000													4	109					0.00024832	0.000285958	0.009096	1	0
DGCR6L	85359	broad.mit.edu	37	22	20302978	20302978	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:20302978C>T	ENST00000248879.3	-	4	485	c.394G>A	c.(394-396)Gag>Aag	p.E132K	DGCR6L_ENST00000405465.3_Missense_Mutation_p.E94K	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	132						nucleus		p.E132K(1)		endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CGCTGCTCCTCACGGATCCGG	0.677000													5	49					0	0	0.000602	0	0
POLL	27343	broad.mit.edu	37	10	103344509	103344509	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:103344509C>G	ENST00000370162.3	-	5	1235	c.741G>C	c.(739-741)caG>caC	p.Q247H	POLL_ENST00000370172.1_Missense_Mutation_p.Q159H|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.R105T|POLL_ENST00000299206.4_Missense_Mutation_p.Q247H|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.Q247H|POLL_ENST00000339310.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	247					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	p.Q247H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TGGTCGCCTTCTGGCTTGAGG	0.572000								DNA polymerases (catalytic subunits)					3	49					0	0	0.009096	0	0
LHX8	431707	broad.mit.edu	37	1	75608953	75608953	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:75608953G>T	ENST00000294638.5	+	6	1204	c.540G>T	c.(538-540)gtG>gtT	p.V180V	LHX8_ENST00000356261.3_Silent_p.V170V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	180	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V180V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGCTTTGGTGGAAGAGAAAG	0.418000													10	34					1.76689e-08	2.39313e-08	0.006214	1	0
ZNF208	7757	broad.mit.edu	37	19	22154078	22154078	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:22154078T>C	ENST00000397126.4	-	4	3906	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.Y1125C(2)|p.Y1253C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.378000													32	44					0	0	0.002096	0	0
OR10K2	391107	broad.mit.edu	37	1	158390407	158390407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:158390407C>A	ENST00000314902.2	-	1	249	c.250G>T	c.(250-252)Gac>Tac	p.D84Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D84Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GACAGCAGGTCAACCAGCATC	0.502000													7	161					5.18039e-06	6.43913e-06	0.003080	1	0
UBE2W	55284	broad.mit.edu	37	8	74742658	74742658	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:74742658C>A	ENST00000517608.1	-	2	152	c.152G>T	c.(151-153)gGa>gTa	p.G51V	UBE2W_ENST00000602969.1_Missense_Mutation_p.G33V|UBE2W_ENST00000419880.3_Missense_Mutation_p.G62V|UBE2W_ENST00000453587.2_Missense_Mutation_p.G22V|UBE2W_ENST00000602593.1_Missense_Mutation_p.G22V|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.G22V			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	22					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	p.G33V(2)		kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TAAGGTCATTCCAGGAGGTGG	0.328000													28	152					1.06801e-11	1.58352e-11	0.009535	1	0
PCDHB16	57717	broad.mit.edu	37	5	140564055	140564055	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140564055G>T	ENST00000361016.2	+	1	3076	c.1921G>T	c.(1921-1923)Gtg>Ttg	p.V641L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		641	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V641L(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGGCTGGTGGTGCTGGT	0.706000													15	49					4.75885e-15	7.56233e-15	0.004990	1	0
FANK1	92565	broad.mit.edu	37	10	127693550	127693550	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:127693550G>A	ENST00000368695.1	+	7	741	c.619G>A	c.(619-621)Gct>Act	p.A207T	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.A213T	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	213						cytoplasm|nucleus		p.A213T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AGGCTGTACAGCTCTGCACTG	0.537000													24	116					0	0	0.004656	0	0
C10orf90	118611	broad.mit.edu	37	10	128147624	128147624	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:128147624G>T	ENST00000284694.7	-	6	2002	c.1882C>A	c.(1882-1884)Ccc>Acc	p.P628T	C10orf90_ENST00000480379.1_Missense_Mutation_p.P32T|C10orf90_ENST00000544758.1_Missense_Mutation_p.P725T|C10orf90_ENST00000356858.3_Missense_Mutation_p.P581T|C10orf90_ENST00000454341.1_Missense_Mutation_p.P531T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	628								p.P628T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGAGGATGGGGAATCGTGAAC	0.587000													7	31					5.18039e-06	6.43913e-06	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179587120	179587120	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179587120A>T	ENST00000589042.1	-	77	22618	c.22394T>A	c.(22393-22395)cTa>cAa	p.L7465Q	TTN_ENST00000342992.6_Missense_Mutation_p.L6221Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7148Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7148	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L6221Q(1)		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)			TGAAGTCTGTAGATTTTCATC	0.423000													6	61					0	0	0.001168	0	0
BAI3	577	broad.mit.edu	37	6	70049262	70049262	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:70049262C>T	ENST00000370598.1	+	26	4146	c.3325C>T	c.(3325-3327)Ctg>Ttg	p.L1109L	BAI3_ENST00000238918.8_Silent_p.L315L|BAI3_ENST00000546190.1_Silent_p.L73L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1109					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1109L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTGCCCCTTCTGGCTTTGAC	0.468000													22	206					0	0	0.003330	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769535	112769535	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:112769535T>C	ENST00000390666.3	-	1	1193	c.1002A>G	c.(1000-1002)caA>caG	p.Q334Q	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	334					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q334Q(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GCCTGGACATTTGCATTGCTG	0.617000													3	22					0	0	0.004672	0	0
CCDC122	160857	broad.mit.edu	37	13	44442842	44442842	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:44442842C>G	ENST00000444614.3	-	4	402	c.144G>C	c.(142-144)ctG>ctC	p.L48L	CCDC122_ENST00000281508.3_Silent_p.L48L|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	48								p.L48L(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCAAATTGAACAGAACCTTTT	0.303000													3	13					0	0	0.004672	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445223	29445223	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:29445223A>G	ENST00000544604.2	+	8	1229	c.1054A>G	c.(1054-1056)Agc>Ggc	p.S352G	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S252G|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S252G|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S252G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	352						integral to membrane	zinc ion binding	p.S252G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGTGGAGACCAGCAACCTCTC	0.602000													13	62					0	0	0.001368	0	0
FYB	2533	broad.mit.edu	37	5	39202772	39202772	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:39202772G>A	ENST00000351578.6	-	2	481	c.291C>T	c.(289-291)agC>agT	p.S97S	FYB_ENST00000515010.1_Silent_p.S97S|FYB_ENST00000540520.1_Silent_p.S107S|FYB_ENST00000512982.1_Silent_p.S97S|FYB_ENST00000505428.1_Silent_p.S97S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	97					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.S97S(3)|p.S107S(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTGGTCAAGCTGGCTGGTG	0.527000													18	41					0	0	0.004990	0	0
DSG4	147409	broad.mit.edu	37	18	28993189	28993189	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:28993189G>A	ENST00000359747.4	+	15	2840	c.2811G>A	c.(2809-2811)gtG>gtA	p.V937V	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.V918V	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	918					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.V937V(1)|p.V918V(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATCCATGTGTGCAACCCACTA	0.428000													27	86					0	0	0.005443	0	0
CALD1	800	broad.mit.edu	37	7	134617818	134617818	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:134617818C>A	ENST00000361388.2	+	5	764	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	CALD1_ENST00000361675.2_Missense_Mutation_p.L100M|CALD1_ENST00000393118.2_Missense_Mutation_p.L94M|CALD1_ENST00000361901.2_Missense_Mutation_p.L100M|CALD1_ENST00000495522.1_Missense_Mutation_p.L94M|CALD1_ENST00000422748.1_Missense_Mutation_p.L100M|CALD1_ENST00000424922.1_Missense_Mutation_p.L94M|CALD1_ENST00000417172.1_Missense_Mutation_p.L100M|CALD1_ENST00000543443.1_Missense_Mutation_p.L105M	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	307	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.L100M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CCTGGAGCGCCTGGCTCGGCG	0.557000													9	31					0.000673444	0.000761852	0.008291	1	0
NR4A2	4929	broad.mit.edu	37	2	157183351	157183351	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:157183351T>C	ENST00000339562.4	-	6	1602	c.1240A>G	c.(1240-1242)Atg>Gtg	p.M414V	NR4A2_ENST00000409572.1_Missense_Mutation_p.M414V|NR4A2_ENST00000426264.1_Missense_Mutation_p.M351V|NR4A2_ENST00000429376.1_Missense_Mutation_p.M351V|NR4A2_ENST00000539077.1_Missense_Mutation_p.M425V|NR4A2_ENST00000409108.2_Missense_Mutation_p.M414V	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	414	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.M414V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ATGATCTCCATGGAGCCAGTC	0.483000													12	169					0	0	0.001368	0	0
CRTAM	56253	broad.mit.edu	37	11	122720873	122720873	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:122720873C>A	ENST00000227348.4	+	2	191	c.144C>A	c.(142-144)ctC>ctA	p.L48L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	48	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.Q49K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ACTCCTCCCTCCAGTGGCTGA	0.483000													16	65					3.41278e-10	4.84736e-10	0.004990	1	0
LAMA5	3911	broad.mit.edu	37	20	60885533	60885533	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:60885533G>A	ENST00000252999.3	-	76	10608	c.10542C>T	c.(10540-10542)atC>atT	p.I3514I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3514					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.I3514N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGGCCCAAGATGCAGGGTG	0.662000													11	47					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:7578370C>A	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		CAGCTGCTCACCATCGCTATC	0.632000		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)			16	29					3.52763e-06	4.43198e-06	0.004990	1	0
SLC37A3	84255	broad.mit.edu	37	7	140048468	140048468	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:140048468C>T	ENST00000326232.9	-	10	1185	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SLC37A3_ENST00000447932.2_Missense_Mutation_p.A328T|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.A328T	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	328					carbohydrate transport|transmembrane transport	integral to membrane		p.A328T(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AGCTTGTCGGCTTCCGCCTCC	0.458000													26	92					0	0	0.007291	0	0
OR5B12	390191	broad.mit.edu	37	11	58207086	58207086	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:58207086G>C	ENST00000302572.2	-	1	560	c.539C>G	c.(538-540)cCt>cGt	p.P180R		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P180R(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGAGAGGAGGAGCATCACA	0.408000													10	36					0	0	0.006214	0	0
COL22A1	169044	broad.mit.edu	37	8	139815132	139815132	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:139815132C>T	ENST00000303045.6	-	11	1986	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G514R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	514	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G514R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTTTCTCTCCCTTAGGTCCA	0.587000										HNSCC(7;0.00092)			16	88					0	0	0.007413	0	0
MMP27	64066	broad.mit.edu	37	11	102573508	102573508	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:102573508C>T	ENST00000260229.4	-	4	686	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E199K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GTCCAGTTTTCATCCTCATCA	0.443000													20	124					0	0	0.007413	0	0
NOTCH2	4853	broad.mit.edu	37	1	120547953	120547953	+	Splice_Site	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:120547953T>A	ENST00000256646.2	-	3	633	c.415_splice	c.e3+1	p.T138_splice	NOTCH2_ENST00000602566.1_Splice_Site_p.T99_splice	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	138	EGF-like 3.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T138T(1)|p.T99T(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGTTACCTGTAAACCCGA	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				24	97					0	0	0.007291	0	0
VCAN	1462	broad.mit.edu	37	5	82836667	82836667	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:82836667C>A	ENST00000265077.3	+	8	8410	c.7845C>A	c.(7843-7845)gaC>gaA	p.D2615E	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.D1628E|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2615	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D2615E(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTAATGATGACAGCACTCAAG	0.408000													7	32					0.00198382	0.00220158	0.001984	1	0
KDELR3	11015	broad.mit.edu	37	22	38875670	38875670	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:38875670G>A	ENST00000216014.4	+	3	437	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KDELR3_ENST00000409006.3_Missense_Mutation_p.E89K|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	89					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	p.E89K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TTTTGACAGTGAGAATGACAC	0.448000													36	318					0	0	0.006230	0	0
OR56A3	390083	broad.mit.edu	37	11	5969240	5969240	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:5969240T>C	ENST00000329564.6	+	1	671	c.664T>C	c.(664-666)Tac>Cac	p.Y222H		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y222H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTCTCCTACACCTTCAT	0.517000													29	126					0	0	0.003271	0	0
FAT4	79633	broad.mit.edu	37	4	126402805	126402805	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:126402805T>A	ENST00000394329.3	+	15	12741	c.12728T>A	c.(12727-12729)gTg>gAg	p.V4243E	FAT4_ENST00000335110.5_Missense_Mutation_p.V2484E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4243	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V4186E(1)|p.V4243E(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTTTGGTGTGAACAGTCTG	0.438000													22	58					0	0	0.001882	0	0
HMCN1	83872	broad.mit.edu	37	1	186084074	186084074	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:186084074C>A	ENST00000271588.4	+	74	11629	c.11400C>A	c.(11398-11400)gtC>gtA	p.V3800V	HMCN1_ENST00000367492.2_Silent_p.V3800V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3800					response to stimulus|visual perception	basement membrane	calcium ion binding	p.V3800V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTACAGGTCCATGGTAAAT	0.428000													10	117					3.86212e-05	4.61728e-05	0.008291	1	0
CES3	23491	broad.mit.edu	37	16	67006790	67006790	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:67006790C>T	ENST00000303334.4	+	13	1625	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	CES3_ENST00000394037.1_Silent_p.P515P|CES3_ENST00000543856.1_Silent_p.P157P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	518						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P518P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCTTGGCCCCAATTCAACC	0.602000													6	77					0	0	0.003080	0	0
CASP5	838	broad.mit.edu	37	11	104871020	104871020	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:104871020G>C	ENST00000393141.2	-	6	990	c.959C>G	c.(958-960)cCc>cGc	p.P320R	CASP5_ENST00000444749.2_Missense_Mutation_p.P249R|CASP5_ENST00000418434.1_Missense_Mutation_p.P165R|CASP5_ENST00000531367.1_Missense_Mutation_p.P165R|CASP5_ENST00000526056.1_Missense_Mutation_p.P320R|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.P307R	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	307					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.P320R(1)|p.P291R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATGACCTTGGGTTTGTCCTT	0.453000													7	165					0	0	0.004482	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609933	32609933	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:32609933C>T	ENST00000343139.5	+	3	618	c.516C>T	c.(514-516)ttC>ttT	p.F172F	HLA-DQA1_ENST00000395363.1_Silent_p.F172F|HLA-DQA1_ENST00000374949.2_Silent_p.F172F	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	171	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.F172F(1)		NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ATTCCTTCTTCAAGATCAGTT	0.507000													9	105					0	0	0.004482	0	0
OR5L1	219437	broad.mit.edu	37	11	55579021	55579021	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55579021C>A	ENST00000333973.2	+	1	168	c.79C>A	c.(79-81)Ctc>Atc	p.L27I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGAGTCTGCCTCTTCCTGCT	0.493000													49	167					2.14674e-31	3.76045e-31	0.003610	1	0
SYT4	6860	broad.mit.edu	37	18	40850492	40850492	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:40850492A>T	ENST00000255224.3	-	4	1460	c.1092T>A	c.(1090-1092)tgT>tgA	p.C364*	SYT4_ENST00000590752.1_Nonsense_Mutation_p.C346*|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	364	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.C364*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCCCTCACAAGGAATAT	0.438000													17	43					0	0	0.004007	0	0
LRRC41	10489	broad.mit.edu	37	1	46745230	46745230	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:46745230C>G	ENST00000343304.6	-	8	2362	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693								p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547000													7	121					0	0	0.004482	0	0
SLIT2	9353	broad.mit.edu	37	4	20619206	20619206	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:20619206G>T	ENST00000504154.1	+	36	4533	c.4281G>T	c.(4279-4281)agG>agT	p.R1427S	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1440S|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1423S|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1419S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1427					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.R1427S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGAAGTGCAGGCTTTCAGGTC	0.562000													9	13					1.12685e-05	1.37275e-05	0.004482	1	0
TRIM58	25893	broad.mit.edu	37	1	248031161	248031161	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248031161C>A	ENST00000366481.3	+	4	810	c.762C>A	c.(760-762)gtC>gtA	p.V254V		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	254						intracellular	zinc ion binding	p.L255M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGAGGAGTCCTGAGCAGGT	0.478000													10	51					2.10051e-16	3.41399e-16	0.001368	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928358	13928358	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:13928358C>A	ENST00000602743.1	-	0	224																											AGGACCAGACCAATGAGGAGC	0.622000													21	34					2.64397e-27	4.58146e-27	0.005443	1	0
EFTUD2	9343	broad.mit.edu	37	17	42953452	42953452	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:42953452T>A	ENST00000426333.2	-	10	1016	c.719A>T	c.(718-720)gAg>gTg	p.E240V	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E240V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E230V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E205V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	240						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.E240V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GATCAGCCGCTCTGTGTTCAG	0.502000													10	102					0	0	0.008291	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149344	142149344	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142149344C>A	ENST00000390372.3	-	0	55																											CAGGACTCACCTGCTACCAGG	0.607000													13	55					2.27111e-07	2.97562e-07	0.001368	1	0
FAT3	120114	broad.mit.edu	37	11	92538341	92538341	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:92538341T>G	ENST00000298047.6	+	10	8936	c.8919T>G	c.(8917-8919)ttT>ttG	p.F2973L	FAT3_ENST00000525166.1_Missense_Mutation_p.F2823L|FAT3_ENST00000409404.2_Missense_Mutation_p.F2973L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2973	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.F2973L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGGAAGGTTTGCTCTGGGCC	0.433000										TCGA Ovarian(4;0.039)			9	45					0	0	0.008291	0	0
FMO1	2326	broad.mit.edu	37	1	171227270	171227270	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:171227270T>A	ENST00000354841.4	+	1	175	c.44T>A	c.(43-45)cTg>cAg	p.L15Q	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.L15Q|FMO1_ENST00000367750.3_Missense_Mutation_p.L15Q			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	15					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L15Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCAGCGGCCTGGCCTCCATC	0.572000													4	63					0	0	0.009096	0	0
PURA	5813	broad.mit.edu	37	5	139494510	139494510	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:139494510G>T	ENST00000331327.3	+	1	803	c.744G>T	c.(742-744)gaG>gaT	p.E248D		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	248					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	p.E248D(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGAGCGAGGTGAAGCCCA	0.567000													16	43					2.32078e-09	3.24253e-09	0.003163	1	0
AGPAT4	56895	broad.mit.edu	37	6	161570225	161570225	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:161570225T>A	ENST00000320285.4	-	6	973	c.761A>T	c.(760-762)tAt>tTt	p.Y254F	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.Y92F|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	254					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.Y254F(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TTACCTAACATACAAATCTGC	0.388000													3	39					0	0	0.004672	0	0
DNAH9	1770	broad.mit.edu	37	17	11572978	11572978	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:11572978A>T	ENST00000262442.3	+	17	3288	c.3220A>T	c.(3220-3222)Agg>Tgg	p.R1074W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1074W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1074	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1074W(1)		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)		AGAGGTGTGCAGGCTGGAACC	0.463000													64	130					0	0	0.003610	0	0
S1PR2	9294	broad.mit.edu	37	19	10335474	10335474	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:10335474G>T	ENST00000590320.1	-	2	218	c.108C>A	c.(106-108)gcC>gcA	p.A36A		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	36					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.A36A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAAGGCCGAGGCCACCTGGC	0.552000													24	97					1.55811e-20	2.63585e-20	0.008361	1	0
ZNF107	51427	broad.mit.edu	37	7	64168595	64168595	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:64168595G>T	ENST00000395391.1	+	4	3288	c.1913G>T	c.(1912-1914)tGt>tTt	p.C638F	ZNF107_ENST00000423627.1_Missense_Mutation_p.C638F|ZNF107_ENST00000344930.3_Missense_Mutation_p.C638F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C638F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTTACCAATGTGCAGAATGT	0.373000													21	44					6.33239e-15	1.00256e-14	0.010504	1	0
FECH	2235	broad.mit.edu	37	18	55247342	55247342	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:55247342C>A	ENST00000262093.5	-	2	308	c.157G>T	c.(157-159)Gcc>Tcc	p.A53S	FECH_ENST00000585699.1_Intron|FECH_ENST00000382873.3_Missense_Mutation_p.A53S	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	53					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.A53S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCACCCTGGGCATGCTGGGCT	0.507000													16	60					0.000566183	0.000644485	0.004990	1	0
ACSM2B	348158	broad.mit.edu	37	16	20552030	20552030	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:20552030C>A	ENST00000329697.6	-	13	1743	c.1575G>T	c.(1573-1575)aaG>aaT	p.K525N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.K525N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.K525N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.K446N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	525					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.K525N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTGCAGCTCCTTGGTGAGCT	0.483000													21	88					3.28513e-13	5.02754e-13	0.003954	1	0
SLC8A1	6546	broad.mit.edu	37	2	40342413	40342413	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:40342413A>T	ENST00000406785.1	-	8	2983	c.2794T>A	c.(2794-2796)Tgc>Agc	p.C932S	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.C963S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.C932S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.C960S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.C932S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.C963S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.C932S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.C968S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.C932S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.C968S|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	968					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.C968S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTTATGTGGCAGTAGGCCTCC	0.418000													6	36					0	0	0.001168	0	0
SMOC1	64093	broad.mit.edu	37	14	70418870	70418870	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:70418870C>A	ENST00000381280.4	+	2	368	c.115C>A	c.(115-117)Cgt>Agt	p.R39S	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Missense_Mutation_p.R39S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	39	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R39S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AATAAGTGACCGTGACCCACA	0.493000													13	89					2.62699e-14	4.09351e-14	0.003163	1	0
SCAND3	114821	broad.mit.edu	37	6	28541542	28541542	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:28541542A>T	ENST00000452236.2	-	4	2741	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	708					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S708R(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tattactactactgtgttcag	0.313000													4	7					0	0	0.009096	0	0
CXXC5	51523	broad.mit.edu	37	5	139060161	139060161	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:139060161G>T	ENST00000302517.3	+	2	767	c.53G>T	c.(52-54)aGc>aTc	p.S18I	CXXC5_ENST00000511048.1_Missense_Mutation_p.S18I	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	18	Poly-Ser.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	p.S18I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			agcagcagcagcaccaatggc	0.682000													3	4					0.004672	0.00512284	0.004672	1	0
SCN1A	6323	broad.mit.edu	37	2	166859123	166859123	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:166859123A>T	ENST00000423058.2	-	21	4160	c.4143T>A	c.(4141-4143)acT>acA	p.T1381T	SCN1A_ENST00000375405.3_Silent_p.T1370T|SCN1A_ENST00000303395.4_Silent_p.T1381T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.T1353T|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1381						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1370T(1)|p.T1381T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACCTGTCACCAGTTGTGGTGT	0.368000													28	94					0	0	0.007291	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444012	5444012	+	Silent	SNP	C	C	A	rs146457615		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:5444012C>A	ENST00000300778.4	+	1	672	c.582C>A	c.(580-582)atC>atA	p.I194I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I194I(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTGACATCAGGCTCAACA	0.473000													31	105					2.61193e-14	4.07995e-14	0.009535	1	0
OPN5	221391	broad.mit.edu	37	6	47776036	47776036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:47776036C>A	ENST00000489301.2	+	5	988	c.903C>A	c.(901-903)taC>taA	p.Y301*	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Nonsense_Mutation_p.Y301*|OPN5_ENST00000393699.2_Nonsense_Mutation_p.Y301*			Q6U736	OPN5_HUMAN	opsin 5	301					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Y301*(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CAGCGATGTACAATCCCATCA	0.453000													44	115					9.84934e-19	1.64454e-18	0.002522	1	0
FAM98C	147965	broad.mit.edu	37	19	38899434	38899434	+	Nonstop_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:38899434A>T	ENST00000588262.1	+	5	580	c.561A>T	c.(559-561)tgA>tgT	p.*187C	FAM98C_ENST00000252530.5_Missense_Mutation_p.E321V|FAM98C_ENST00000343358.7_Missense_Mutation_p.E239V			Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	0								p.E321V(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCCAAATGAGCTGGAGCCT	0.557000													26	72					0	0	0.003954	0	0
SLC12A3	6559	broad.mit.edu	37	16	56920913	56920913	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:56920913C>A	ENST00000438926.2	+	17	2115	c.2086C>A	c.(2086-2088)Cac>Aac	p.H696N	SLC12A3_ENST00000262502.5_Missense_Mutation_p.H695N|SLC12A3_ENST00000563236.1_Missense_Mutation_p.H696N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.H695N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	696					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.H696N(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGCCAACGGGCACACCAAGTG	0.612000													10	26					7.03913e-09	9.65624e-09	0.001368	1	0
PDE11A	50940	broad.mit.edu	37	2	178681583	178681583	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:178681583G>A	ENST00000286063.5	-	9	2027	c.1710C>T	c.(1708-1710)tcC>tcT	p.S570S	PDE11A_ENST00000449286.2_Silent_p.S212S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Silent_p.S126S|PDE11A_ENST00000409504.1_Silent_p.S212S|PDE11A_ENST00000358450.4_Silent_p.S320S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	570					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S570S(1)|p.S320S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCTTGGCCCAGGACTTCTTCA	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial				37	96					0	0	0.006230	0	0
TMEM57	55219	broad.mit.edu	37	1	25785240	25785240	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:25785240C>T	ENST00000374343.4	+	6	1190	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	337						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.S337S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTCATAGCGCCACAAATG	0.413000													11	144					0	0	0.001368	0	0
DSC3	1825	broad.mit.edu	37	18	28586948	28586948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:28586948C>A	ENST00000434452.1	-	12	1967	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.G605*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	605	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.G605*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATGGAGCTCCATGGACAGGT	0.353000													14	26					1.49906e-05	1.81927e-05	0.002450	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817877	1817877	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:1817877G>C	ENST00000250894.4	+	28	3635	c.3478G>C	c.(3478-3480)Ggc>Cgc	p.G1160R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G1154R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1160					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.G1166R(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCTCTGGGTGGGCACCGGCAA	0.657000													8	106					0	0	0.004482	0	0
NBPF14	25832	broad.mit.edu	37	1	148016461	148016461	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:148016461C>A	ENST00000369219.1	-	7	798		c.e7-1					Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14							cytoplasm		p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CACCGATGTCCTGCAAATAAA	0.463000													18	270					1.28384e-07	1.69072e-07	0.001882	1	0
JAK2	3717	broad.mit.edu	37	9	5072540	5072540	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:5072540C>G	ENST00000381652.3	+	13	2184	c.1690C>G	c.(1690-1692)Cga>Gga	p.R564G	JAK2_ENST00000539801.1_Missense_Mutation_p.R564G|JAK2_ENST00000544510.1_Missense_Mutation_p.R415G	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	564	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.R564G(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TAAAGGCGTACGAAGAGAAGT	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				3	46					0	0	0.004672	0	0
XIST	7503	broad.mit.edu	37	X	73063375	73063375	+	RNA	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:73063375G>A	ENST00000429829.1	-	0	9213					NR_001564.2																						ACATGCCCCTGATGCAAGGGG	0.368000													11	44					0	0	0.000978	0	0
MYO1D	4642	broad.mit.edu	37	17	31105561	31105561	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:31105561C>A	ENST00000318217.5	-	3	639	c.335G>T	c.(334-336)aGt>aTt	p.S112I	MYO1D_ENST00000583621.1_Missense_Mutation_p.S112I|MYO1D_ENST00000579584.1_Missense_Mutation_p.S112I|MYO1D_ENST00000394649.4_Missense_Mutation_p.S24I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	112	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.S112I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AATGTACTTACTGGCTTCCGT	0.408000													12	61					0.000219431	0.000255208	0.002450	1	0
ACCS	84680	broad.mit.edu	37	11	44105089	44105089	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:44105089G>T	ENST00000263776.8	+	14	1804	c.1370G>T	c.(1369-1371)cGc>cTc	p.R457L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	457							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R457L(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGTTGGTTTCGCTTTGTCTTC	0.562000													13	44					1.49906e-05	1.81927e-05	0.002450	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515984	140515984	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140515984G>C	ENST00000231134.5	+	1	1185	c.968G>C	c.(967-969)gGt>gCt	p.G323A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G323A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGATGGTGGGGGCCTT	0.478000													23	110					0	0	0.003330	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912978	77912978	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:77912978C>G	ENST00000321110.1	-	2	1235	c.940G>C	c.(940-942)Gat>Cat	p.D314H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	314							nucleic acid binding|zinc ion binding	p.D314H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCAAAAGTATCCTGGAGCACA	0.478000													3	16					0	0	0.004672	0	0
OR4B1	119765	broad.mit.edu	37	11	48238559	48238559	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:48238559G>T	ENST00000309562.2	+	1	216	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCTGTCCTTGGTGGAGATCA	0.478000													26	95					3.28513e-13	5.02754e-13	0.003954	1	0
ITIH5	80760	broad.mit.edu	37	10	7618544	7618544	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:7618544G>T	ENST00000256861.6	-	10	1928	c.1850C>A	c.(1849-1851)cCc>cAc	p.P617H	ITIH5_ENST00000397146.2_Missense_Mutation_p.P617H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.P403H|ITIH5_ENST00000446830.2_Missense_Mutation_p.P399H|ITIH5_ENST00000397145.2_Missense_Mutation_p.P617H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	617					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P617H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGAGGTGAAGGGAGTGAGGAA	0.672000													11	43					2.61681e-11	3.84438e-11	0.002450	1	0
XIST	7503	broad.mit.edu	37	X	73066401	73066401	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:73066401C>A	ENST00000429829.1	-	0	6187					NR_001564.2																						CGATTACGCACATAAATGTCC	0.473000													27	99					1.68575e-08	2.29291e-08	0.007291	1	0
F13A1	2162	broad.mit.edu	37	6	6145984	6145984	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:6145984G>T	ENST00000264870.3	-	15	2332	c.2067C>A	c.(2065-2067)acC>acA	p.T689T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	689					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T689T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCACTGCACGGTGGAGTTGG	0.537000													18	43					1.96292e-10	2.80355e-10	0.010504	1	0
OR4C46	119749	broad.mit.edu	37	11	51515953	51515953	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:51515953G>A	ENST00000328188.1	+	1	672	c.672G>A	c.(670-672)agG>agA	p.R224R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R224R(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCTCCCTAAGGACTCATAGCT	0.478000													17	40					0	0	0.004007	0	0
NELL2	4753	broad.mit.edu	37	12	45059341	45059341	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:45059341C>A	ENST00000429094.2	-	13	1874	c.1370G>T	c.(1369-1371)tGt>tTt	p.C457F	NELL2_ENST00000452445.2_Missense_Mutation_p.C457F|NELL2_ENST00000333837.4_Missense_Mutation_p.C480F|NELL2_ENST00000551601.1_Missense_Mutation_p.C456F|NELL2_ENST00000395487.2_Missense_Mutation_p.C456F|NELL2_ENST00000549027.1_Missense_Mutation_p.C456F|NELL2_ENST00000437801.2_Missense_Mutation_p.C507F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	457	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.C507F(1)|p.C457F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGTGTTGACACACATTGTATT	0.413000													23	61					5.45024e-15	8.63964e-15	0.003330	1	0
KDR	3791	broad.mit.edu	37	4	55976850	55976850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:55976850G>T	ENST00000263923.4	-	8	1357	c.1062C>A	c.(1060-1062)taC>taA	p.Y354*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	354	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.Y354*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAACCAAGGTACTTCGCAG	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			114	105					2.96273e-59	5.25435e-59	0.003610	1	0
OR5D13	390142	broad.mit.edu	37	11	55541106	55541106	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55541106C>A	ENST00000361760.1	+	1	193	c.193C>A	c.(193-195)Ctt>Att	p.L65I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGCTTTTTCCTTAGTCACTT	0.403000													15	75					2.23348e-06	2.81432e-06	0.004007	1	0
OPTN	10133	broad.mit.edu	37	10	13166046	13166046	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:13166046G>A	ENST00000378748.3	+	10	1296	c.934G>A	c.(934-936)Gag>Aag	p.E312K	OPTN_ENST00000378764.2_Missense_Mutation_p.E306K|OPTN_ENST00000378752.3_Missense_Mutation_p.E306K|OPTN_ENST00000378757.2_Missense_Mutation_p.E312K|OPTN_ENST00000263036.5_Missense_Mutation_p.E312K|OPTN_ENST00000378747.3_Missense_Mutation_p.E312K	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	312					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.E312K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TCTGTTTAAGGAGCTTCAAGA	0.398000													11	52					0	0	0.001855	0	0
TTC39B	158219	broad.mit.edu	37	9	15177782	15177782	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:15177782C>T	ENST00000355694.2	-	18	1790	c.1556G>A	c.(1555-1557)tGc>tAc	p.C519Y	TTC39B_ENST00000512701.1_Missense_Mutation_p.C585Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.C572Y|TTC39B_ENST00000297615.5_Missense_Mutation_p.C516Y|TTC39B_ENST00000507993.1_Missense_Mutation_p.C420Y|TTC39B_ENST00000507285.1_Missense_Mutation_p.C420Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	519							binding	p.C519Y(1)|p.C585Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTCACTAAGCACTCATCATC	0.323000													7	25					0	0	0.001984	0	0
ANGPT4	51378	broad.mit.edu	37	20	870864	870864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:870864C>A	ENST00000381922.3	-	2	559	c.457G>T	c.(457-459)Gag>Tag	p.E153*	ANGPT4_ENST00000546022.1_Nonsense_Mutation_p.E153*	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	153					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E153*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTGAGCCTCCATGTCGGTC	0.607000													11	35					0.000978159	0.00109979	0.000978	1	0
BCHE	590	broad.mit.edu	37	3	165548502	165548502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:165548502G>T	ENST00000264381.3	-	2	486	c.320C>A	c.(319-321)tCa>tAa	p.S107*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	107					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.S107*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCACATCTCTGATCCATGGAA	0.403000													25	39					4.59853e-10	6.51712e-10	0.005443	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890520	23890520	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:23890520G>A	ENST00000532292.1	-	1	655	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_019066.4	NP_061939.3			MAGE-like 2									p.F187F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGTAGCTGGGAAGACACTTG	0.587000													12	44					0	0	0.001368	0	0
NIM1K	167359	broad.mit.edu	37	5	43280085	43280085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:43280085G>T	ENST00000512796.1	+	4	2064	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.E189*			Q8IY84	NIM1_HUMAN		189	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E189*(1)									TCCACAGCATGAAAACCAAAT	0.338000													6	45					8.12818e-05	9.56608e-05	0.001984	1	0
FANCC	2176	broad.mit.edu	37	9	97876976	97876976	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:97876976G>T	ENST00000289081.3	-	12	1343	c.1089C>A	c.(1087-1089)caC>caA	p.H363Q	FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.H363Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	363					protein complex assembly	cytosol|nucleoplasm	protein binding	p.H363Q(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TCTGGAGCCAGTGTCCCCGAG	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				36	61					4.92203e-23	8.43776e-23	0.006230	1	0
DHX8	1659	broad.mit.edu	37	17	41567782	41567782	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:41567782G>C	ENST00000262415.3	+	3	330	c.258G>C	c.(256-258)ctG>ctC	p.L86L	DHX8_ENST00000540306.1_Silent_p.L86L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	86						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L86L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTAACTTGCTGCGTCTCATAC	0.418000													10	54					0	0	0.008291	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658341	33658341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:33658341C>T	ENST00000504830.1	-	7	1473	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E380K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	380	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E380K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCGAATCTTCATTGATGTTA	0.507000										HNSCC(64;0.19)			50	86					0	0	0.003610	0	0
PSG9	5678	broad.mit.edu	37	19	43762511	43762511	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:43762511T>A	ENST00000244293.7	-	4	873	c.807A>T	c.(805-807)gcA>gcT	p.A269A	PSG9_ENST00000443718.3_Silent_p.A269A|PSG9_ENST00000270077.3_Silent_p.A362A|PSG9_ENST00000593948.1_Silent_p.A269A|PSG9_ENST00000291752.5_Silent_p.A176A|PSG9_ENST00000596730.1_Silent_p.A176A|PSG9_ENST00000418820.2_Silent_p.A269A			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	266	Ig-like C2-type 2.				female pregnancy	extracellular region		p.A362A(1)		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)				AAAAATACTCTGCCGGTGGGT	0.453000													96	191					0	0	0.003610	0	0
C5	727	broad.mit.edu	37	9	123779771	123779771	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:123779771C>G	ENST00000223642.1	-	14	1764	c.1735G>C	c.(1735-1737)Gca>Cca	p.A579P		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	579					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.A579P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TATGCATCTGCATCAGGAGAC	0.418000													10	22					0	0	0.008291	0	0
ARMC5	79798	broad.mit.edu	37	16	31476282	31476282	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:31476282A>G	ENST00000457010.2	+	4	2639	c.1938A>G	c.(1936-1938)ccA>ccG	p.P646P	ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000563544.1_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	452							binding	p.P646P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCATGGGCCCAGAACCTCACC	0.652000													8	13					0	0	0.004482	0	0
SMO	6608	broad.mit.edu	37	7	128850377	128850377	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:128850377G>T	ENST00000249373.3	+	9	1920	c.1640G>T	c.(1639-1641)cGt>cTt	p.R547L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	547					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R547L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATCTGGAGGCGTACCTGGTGC	0.612000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	39					0.000157383	0.000183376	0.003080	1	0
SI	6476	broad.mit.edu	37	3	164750353	164750353	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:164750353G>T	ENST00000264382.3	-	24	2755	c.2693C>A	c.(2692-2694)cCa>cAa	p.P898Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	898	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P898Q(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCGTTCATTGGTTGATTATT	0.318000										HNSCC(35;0.089)			20	38					1.10923e-09	1.55826e-09	0.002780	1	0
TYR	7299	broad.mit.edu	37	11	89028421	89028421	+	Missense_Mutation	SNP	G	G	T	rs146020203		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:89028421G>T	ENST00000263321.5	+	5	1979	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	493					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.A493S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCCCTGCTGGCAGGGCTTGT	0.522000													9	52					4.68919e-08	6.27833e-08	0.008291	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74649349	74649349	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:74649349G>T	ENST00000354431.4	-	2	211	c.20C>A	c.(19-21)aCa>aAa	p.T7K	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.T7K|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.T7K|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.T7K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	7								p.T7K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGCTCTTCTGTGACTGTTCC	0.318000													5	48					0.00116845	0.00130459	0.001168	1	0
APOL6	80830	broad.mit.edu	37	22	36054687	36054687	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:36054687G>A	ENST00000409652.3	+	3	352	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	26					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	p.E26K(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TCCTCTGTGTGAAGACGTGGA	0.428000													5	44					0	0	0.001168	0	0
OR10A5	144124	broad.mit.edu	37	11	6867090	6867090	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:6867090C>A	ENST00000299454.4	+	1	208	c.177C>A	c.(175-177)ccC>ccA	p.P59P	OR10A5_ENST00000379831.2_Silent_p.P63P			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P59P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACACAGCCCCATGTACTTCT	0.473000													21	121					2.4375e-19	4.09117e-19	0.007291	1	0
METTL7B	196410	broad.mit.edu	37	12	56075645	56075645	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:56075645T>C	ENST00000394252.3	+	1	316	c.107T>C	c.(106-108)tTc>tCc	p.F36S		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	36							methyltransferase activity	p.F36S(1)		kidney(1)|large_intestine(1)|lung(4)	6						AAAAGCTACTTCCCCTACCTG	0.597000													2	5					0	0	0.004672	0	0
CDH2	1000	broad.mit.edu	37	18	25562964	25562964	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:25562964C>T	ENST00000269141.3	-	14	2716	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N	CDH2_ENST00000399380.3_Missense_Mutation_p.D734N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	765					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.D765N(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCTCTTACATCATCTTCTGGA	0.353000													18	77					0	0	0.006122	0	0
OR8J1	219477	broad.mit.edu	37	11	56127732	56127732	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:56127732G>A	ENST00000303039.3	+	1	42	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E4K(1)		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)					CATGGCTCCTGAAAATTTCAC	0.438000													13	60					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113697770	113697770	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:113697770G>T	ENST00000297405.5	-	15	2591	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P743T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P783T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P679T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	783	CUB 4.					integral to membrane|plasma membrane		p.P743T(1)|p.P783T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGATTCTGGAGAGTCACCA	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	74					1.45105e-14	2.27491e-14	0.006122	1	0
AP5S1	55317	broad.mit.edu	37	20	3802911	3802911	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:3802911C>T	ENST00000379573.2	+	2	391	c.147C>T	c.(145-147)ctC>ctT	p.L49L	AP5S1_ENST00000246041.2_Silent_p.L49L|AP5S1_ENST00000379567.2_Silent_p.L49L	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	49					double-strand break repair via homologous recombination		protein binding	p.L49L(1)									ACAGGCTTCTCCGGAAGGAAC	0.567000													8	69					0	0	0.006214	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359449	70359449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:70359449C>A	ENST00000305107.6	-	2	878	c.832G>T	c.(832-834)Gga>Tga	p.G278*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.G278*|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.G142*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	278					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGAGTCCTCCAACGAACTCA	0.403000													26	170					7.26314e-15	1.14428e-14	0.007291	1	0
NLRP5	126206	broad.mit.edu	37	19	56538929	56538929	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:56538929C>A	ENST00000390649.3	+	7	1330	c.1330C>A	c.(1330-1332)Cgc>Agc	p.R444S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	444	NACHT.					mitochondrion|nucleolus	ATP binding	p.R444S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCCTTGAGCGCGGGATTGG	0.562000													12	25					5.16669e-11	7.54724e-11	0.000978	1	0
XIRP2	129446	broad.mit.edu	37	2	168099200	168099200	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:168099200T>A	ENST00000409195.1	+	9	1387	c.1298T>A	c.(1297-1299)gTc>gAc	p.V433D	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V211D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V433D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	258					actin cytoskeleton organization	cell junction	actin binding	p.V433D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATCACAGTGTCACTTCCTCA	0.433000													21	50					0	0	0.001882	0	0
RGPD3	653489	broad.mit.edu	37	2	107040328	107040328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:107040328G>T	ENST00000409886.3	-	20	4182	c.4095C>A	c.(4093-4095)taC>taA	p.Y1365*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.Y1365*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1365	RanBD1 2.				intracellular transport		binding	p.Y1365*(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TATCATATCTGTAGAATTCTG	0.358000													45	422					5.20006e-24	8.93826e-24	0.002852	1	0
KRT32	3882	broad.mit.edu	37	17	39623522	39623522	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:39623522G>T	ENST00000225899.3	-	1	159	c.56C>A	c.(55-57)cCc>cAc	p.P19H		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	19	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.P19H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGCAGGCCGGGGGCAGCTCTT	0.612000													7	42					2.62144e-13	4.03589e-13	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179588665	179588665	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179588665A>T	ENST00000589042.1	-	73	21545	c.21321T>A	c.(21319-21321)gaT>gaA	p.D7107E	TTN_ENST00000342992.6_Missense_Mutation_p.D5863E|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6790E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6790	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D5863E(1)		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)			TATCTGAGGAATCCAGAGAAT	0.443000													24	96					0	0	0.003954	0	0
DPH2	1802	broad.mit.edu	37	1	44437298	44437298	+	Missense_Mutation	SNP	G	G	T	rs144632086	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:44437298G>T	ENST00000255108.3	+	4	896	c.724G>T	c.(724-726)Gca>Tca	p.A242S	DPH2_ENST00000412950.2_Missense_Mutation_p.A107S|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	242					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		p.A242S(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTTGGGGTGGGCACCAGGTCA	0.597000													9	39					1.12685e-05	1.37275e-05	0.004482	1	0
MTF1	4520	broad.mit.edu	37	1	38281087	38281087	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:38281087C>T	ENST00000373036.4	-	11	2123	c.1983G>A	c.(1981-1983)ccG>ccA	p.P661P		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	661						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.P661P(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGGGGGCTCGGCTCTGGAG	0.632000													13	57					0	0	0.001368	0	0
USP28	57646	broad.mit.edu	37	11	113683217	113683217	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:113683217G>A	ENST00000003302.4	-	16	1821	c.1753C>T	c.(1753-1755)Cgc>Tgc	p.R585C	USP28_ENST00000544967.1_Missense_Mutation_p.R293C|USP28_ENST00000545540.1_Missense_Mutation_p.R460C|USP28_ENST00000260188.5_Missense_Mutation_p.R585C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	585					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R585C(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCATGCAAGCGATAAGGCACC	0.398000													5	101					0	0	0.001168	0	0
WSCD2	9671	broad.mit.edu	37	12	108634280	108634280	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:108634280G>T	ENST00000332082.4	+	9	2122	c.1304G>T	c.(1303-1305)gGc>gTc	p.G435V	WSCD2_ENST00000547525.1_Missense_Mutation_p.G435V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G435V|WSCD2_ENST00000261400.3_Missense_Mutation_p.G435V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	435						integral to membrane		p.G435V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAGTACGGCGGCCACATAGGC	0.642000													20	57					9.57634e-11	1.38469e-10	0.003330	1	0
AOAH	313	broad.mit.edu	37	7	36657948	36657948	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:36657948C>A	ENST00000431169.1	-	10	1006	c.706G>T	c.(706-708)Gtc>Ttc	p.V236F	AOAH_ENST00000258749.5_Missense_Mutation_p.V236F|AOAH_ENST00000535891.1_Missense_Mutation_p.V204F	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	236					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.V236F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTGGATCGACACCCTTTAAA	0.323000													11	51					3.86212e-05	4.61728e-05	0.008291	1	0
CACNA1E	777	broad.mit.edu	37	1	181707533	181707533	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:181707533G>A	ENST00000526775.1	+	23	3691	c.3526G>A	c.(3526-3528)Ggc>Agc	p.G1176S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1146S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1195S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1127S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1176S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G802S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1195S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1195					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1195S(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGTTCACGGGCGTGTTCAC	0.473000													26	308					0	0	0.005443	0	0
SNTG2	54221	broad.mit.edu	37	2	1263177	1263177	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:1263177C>T	ENST00000308624.5	+	13	1170	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	SNTG2_ENST00000407292.1_Silent_p.T220T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	347	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.T347T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGAAAGGACCTATCACCTCT	0.403000													13	82					0	0	0.003163	0	0
MSL2	55167	broad.mit.edu	37	3	135913854	135913854	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:135913854G>C	ENST00000309993.2	-	1	834	c.102C>G	c.(100-102)ctC>ctG	p.L34L		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	34					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.L34L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTAAGGCAAGAGCCTGTTAA	0.502000													14	178					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179455175	179455175	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179455175A>T	ENST00000589042.1	-	304	61501	c.61277T>A	c.(61276-61278)cTc>cAc	p.L20426H	TTN_ENST00000342992.6_Missense_Mutation_p.L17858H|TTN_ENST00000359218.5_Missense_Mutation_p.L11486H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L11553H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L18785H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L11361H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18785	Fibronectin type-III 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L17858H(1)|p.L17856H(1)|p.L11361H(1)|p.L11553H(1)|p.L11486H(1)		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)			TTGCCTAATGAGTTCATCTTT	0.433000													5	134					0	0	0.001168	0	0
HLA-F	3134	broad.mit.edu	37	6	29692182	29692182	+	Silent	SNP	C	C	T	rs138293991	by1000genomes	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:29692182C>T	ENST00000440587.2	+	3	572	c.213C>T	c.(211-213)ctC>ctT	p.L71L	HLA-F_ENST00000434407.2_Silent_p.L189L|HLA-F_ENST00000259951.7_Silent_p.L189L|HLA-F_ENST00000376861.1_Silent_p.L189L|HLA-F_ENST00000334668.4_Silent_p.L189L			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	189	Alpha-1.		P -> Q (in dbSNP:rs17875380).		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.L189L(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGAGTTGCTCCGCAGATACT	0.602000													6	41					0	0	0.001168	0	0
SETBP1	26040	broad.mit.edu	37	18	42532590	42532590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:42532590C>A	ENST00000282030.5	+	4	3581	c.3285C>A	c.(3283-3285)ttC>ttA	p.F1095L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1095						nucleus	DNA binding	p.F1095_H1096>LN(1)|p.F1041_H1042>LN(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACCTCAGTTCCACACAAACT	0.532000									Schinzel-Giedion syndrome				18	29					1.2644e-06	1.62025e-06	0.010504	1	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013884	33013884	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:33013884C>A	ENST00000567619.1	-	0	499																											ACACCTTCACCTACTGCTACT	0.522000													10	57					4.84862e-15	7.69545e-15	0.000978	1	0
CD163	9332	broad.mit.edu	37	12	7647728	7647728	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:7647728A>G	ENST00000359156.4	-	6	1571	c.1369T>C	c.(1369-1371)Tgg>Cgg	p.W457R	CD163_ENST00000541972.1_Missense_Mutation_p.W445R|CD163_ENST00000396620.3_Missense_Mutation_p.W457R|CD163_ENST00000432237.2_Missense_Mutation_p.W457R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	457	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.W457R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGTCCACCCCATTGCCAGTTC	0.403000													25	197					0	0	0.006320	0	0
ACTA1	58	broad.mit.edu	37	1	229567635	229567635	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:229567635C>A	ENST00000366684.3	-	6	925	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	ACTA1_ENST00000366683.2_Missense_Mutation_p.G187C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	275					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.G275C(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCGTGAATGCCCGCCGACTCC	0.677000													20	59					8.10497e-08	1.07508e-07	0.010504	1	0
KDR	3791	broad.mit.edu	37	4	55971000	55971000	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:55971000G>T	ENST00000263923.4	-	13	2092	c.1797C>A	c.(1795-1797)ccC>ccA	p.P599P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	599	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.P599P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAACAGGTGTGGGCAACTCTC	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			125	83					7.47599e-62	1.32769e-61	0.003610	1	0
CFH	3075	broad.mit.edu	37	1	196682928	196682928	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:196682928A>G	ENST00000367429.4	+	10	1640	c.1400A>G	c.(1399-1401)tAt>tGt	p.Y467C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	467	Sushi 8.				complement activation, alternative pathway	extracellular space		p.Y467C(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTATACATATGCCTTAAAA	0.333000													3	44					0	0	0.009096	0	0
GPR158	57512	broad.mit.edu	37	10	25861626	25861626	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:25861626G>T	ENST00000376351.3	+	7	1922	c.1563G>T	c.(1561-1563)atG>atT	p.M521I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	521						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M521I(1)		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						TTCCATATATGACTGGCGGAC	0.418000													17	99					5.03518e-11	7.36353e-11	0.007413	1	0
OR51B6	390058	broad.mit.edu	37	11	5373151	5373151	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:5373151G>A	ENST00000380219.1	+	1	414	c.414G>A	c.(412-414)caG>caA	p.Q138Q	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q138Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACACCCAGGTAATGAAGA	0.478000													18	50					0	0	0.006122	0	0
OR11L1	391189	broad.mit.edu	37	1	248004658	248004658	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248004658G>A	ENST00000355784.2	-	1	596	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L181F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTGGCGGGAGGTCGCAGAAG	0.507000													14	80					0	0	0.003163	0	0
EFNA2	1943	broad.mit.edu	37	19	1295739	1295739	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:1295739G>T	ENST00000215368.2	+	2	351	c.336G>T	c.(334-336)tgG>tgT	p.W112C	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	112					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding	p.W112C(1)		lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGCGCTGGGAGTGCAAcc	0.711000													10	12					3.86212e-05	4.61728e-05	0.008291	1	0
OPHN1	4983	broad.mit.edu	37	X	67413739	67413739	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:67413739C>A	ENST00000355520.5	-	14	1835	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	OPHN1_ENST00000540071.1_Missense_Mutation_p.E398D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	398	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.E398D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TACCTTTGGTCTCAATAATAT	0.408000													6	34					1.06961e-07	1.41295e-07	0.003080	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915832	43915832	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:43915832C>A	ENST00000377564.3	+	23	4073	c.3680C>A	c.(3679-3681)tCt>tAt	p.S1227Y	CNTNAP3B_ENST00000467854.1_3'UTR	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1227					cell adhesion|signal transduction	integral to membrane	receptor binding	p.S1227Y(1)		central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GTAGGTCGTTCTGGACCAGTG	0.423000													17	17					2.23348e-06	2.81432e-06	0.004007	1	0
DSG3	1830	broad.mit.edu	37	18	29040804	29040804	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:29040804C>A	ENST00000257189.4	+	7	776	c.693C>A	c.(691-693)agC>agA	p.S231R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	231	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S231R(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCAAGCTAGCAGCTATCGTC	0.333000													6	24					8.12818e-05	9.56608e-05	0.001984	1	0
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557000													5	141					0	0	0.000602	0	0
CD7	924	broad.mit.edu	37	17	80273286	80273286	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:80273286G>T	ENST00000583376.1	-	3	1122	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	CD7_ENST00000584284.1_3'UTR|CD7_ENST00000312648.3_Silent_p.R212R			P09564	CD7_HUMAN	CD7 molecule	212	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	p.R212R(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TTCTTATCCCGCCACGAGCAC	0.592000													8	13					5.18039e-06	6.43913e-06	0.003080	1	0
LIN9	286826	broad.mit.edu	37	1	226483578	226483578	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:226483578G>C	ENST00000328205.5	-	4	822	c.277C>G	c.(277-279)Cct>Gct	p.P93A	LIN9_ENST00000366801.1_Intron|LIN9_ENST00000481685.1_Intron	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	77	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm		p.P93A(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTCTTTTAGGTGACCTTGTA	0.338000													4	76					0	0	0.009096	0	0
CRTAM	56253	broad.mit.edu	37	11	122720874	122720874	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:122720874C>A	ENST00000227348.4	+	2	192	c.145C>A	c.(145-147)Cag>Aag	p.Q49K		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	49	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.Q49K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTCCTCCCTCCAGTGGCTGAC	0.478000													16	66					6.94344e-10	9.8079e-10	0.006122	1	0
ING1	3621	broad.mit.edu	37	13	111367918	111367918	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:111367918G>T	ENST00000375774.3	+	1	590	c.128G>T	c.(127-129)gGg>gTg	p.G43V	ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	43					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.G43L(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCTTTTTCGGGGAGGAGCGGG	0.597000													18	45					2.48551e-13	3.8312e-13	0.004990	1	0
TIGD7	91151	broad.mit.edu	37	16	3350096	3350096	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:3350096C>G	ENST00000396862.1	-	2	2347	c.519G>C	c.(517-519)caG>caC	p.Q173H	TIGD7_ENST00000268674.2_Missense_Mutation_p.Q173H	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	173	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.Q173H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						cactgtatagctgAGCTAGAC	0.408000													7	167					0	0	0.006214	0	0
KRT24	192666	broad.mit.edu	37	17	38859404	38859404	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:38859404G>T	ENST00000264651.2	-	1	598	c.542C>A	c.(541-543)cCt>cAt	p.P181H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	181	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.P181H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCAGACCCAGGCCCATATTT	0.453000													16	162					1.3612e-06	1.73909e-06	0.003163	1	0
FLG	2312	broad.mit.edu	37	1	152277574	152277574	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:152277574C>T	ENST00000368799.1	-	3	9823	c.9788G>A	c.(9787-9789)gGt>gAt	p.G3263D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3263	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3263D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCGTGACCGGCTCTGTC	0.582000									Ichthyosis				48	489					0	0	0.003214	0	0
COL9A1	1297	broad.mit.edu	37	6	70926771	70926771	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:70926771A>T	ENST00000357250.6	-	38	2753	c.2595T>A	c.(2593-2595)ccT>ccA	p.P865P	COL9A1_ENST00000320755.7_Silent_p.P622P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.P622P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	865	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.P622P(1)|p.P865P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CATAGCTGGCAGGGCCTGGGT	0.607000													5	28					0	0	0.001168	0	0
KDM6B	23135	broad.mit.edu	37	17	7749569	7749569	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:7749569G>C	ENST00000254846.5	+	6	799	c.410G>C	c.(409-411)gGa>gCa	p.G137A	KDM6B_ENST00000448097.2_Missense_Mutation_p.G137A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	137					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G137A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTTCGATACGGAGGAAGCTTC	0.627000													6	14					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	185931698	185931698	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:185931698G>T	ENST00000271588.4	+	12	2106	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.G626V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	626	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G626V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCACAGGAGGGTCTGAGGTC	0.418000													15	104					1.02788e-11	1.52578e-11	0.004990	1	0
CHSY3	337876	broad.mit.edu	37	5	129520882	129520882	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:129520882A>G	ENST00000305031.4	+	3	2405	c.2047A>G	c.(2047-2049)Aaa>Gaa	p.K683E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	683						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.K683E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGTACCCCAAAGCAGAAAT	0.443000													6	35					0	0	0.001168	0	0
ITGA11	22801	broad.mit.edu	37	15	68620471	68620471	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:68620471G>A	ENST00000423218.2	-	16	2126	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	ITGA11_ENST00000315757.7_Silent_p.P677P			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	677					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P677P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCAGGAAGATGGGCGTGAAGC	0.582000													12	30					0	0	0.000978	0	0
PAPSS2	9060	broad.mit.edu	37	10	89473906	89473906	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:89473906C>A	ENST00000361175.4	+	4	856	c.487C>A	c.(487-489)Ctc>Atc	p.L163I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.L167I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.L163I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	163					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	p.L163I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTAAAAGGCCTCTATAAAAG	0.433000													25	116					1.74807e-11	2.57399e-11	0.002096	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515534	140515534	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140515534G>T	ENST00000231134.5	+	1	735	c.518G>T	c.(517-519)aGc>aTc	p.S173I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		173	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S173I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACACAATCAGCCCAAATTCA	0.502000													16	47					1.02788e-11	1.52578e-11	0.004990	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735447	55735447	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55735447T>A	ENST00000312345.2	-	1	543	c.493A>T	c.(493-495)Att>Ttt	p.I165F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGATTAATTGTGTTAGTT	0.398000													7	31					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057949	63057949	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:63057949T>A	ENST00000332793.6	+	1	314	c.312T>A	c.(310-312)acT>acA	p.T104T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Silent_p.T52T	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	104						integral to membrane	transmembrane transporter activity	p.T104T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAATGGGACTATCCACAGCA	0.502000													15	87					0	0	0.004990	0	0
C1orf173	127254	broad.mit.edu	37	1	75072517	75072517	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:75072517C>A	ENST00000326665.5	-	10	1475	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E222D	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	419	Glu-rich.							p.E419D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTCCTTTCTCAGTGCTCT	0.398000													14	127					1.49906e-05	1.81927e-05	0.002450	1	0
MROH5	389690	broad.mit.edu	37	8	142505442	142505442	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:142505442G>T	ENST00000430863.1	-	0	484					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.P135Q(1)									CCCCACCTCTGGGTTGTCTAT	0.572000													16	110					1.56452e-12	2.37453e-12	0.007413	1	0
USH2A	7399	broad.mit.edu	37	1	216390789	216390789	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:216390789C>A	ENST00000366943.2	-	15	3483	c.3097G>T	c.(3097-3099)Gat>Tat	p.D1033Y	USH2A_ENST00000366942.3_Missense_Mutation_p.D1033Y|USH2A_ENST00000307340.3_Missense_Mutation_p.D1033Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1033	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1033Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACAAGCATCACACTTTGAG	0.458000										HNSCC(13;0.011)			8	30					5.4927e-09	7.5672e-09	0.004482	1	0
CSMD3	114788	broad.mit.edu	37	8	113668524	113668524	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:113668524G>T	ENST00000297405.5	-	18	3107	c.2863C>A	c.(2863-2865)Cca>Aca	p.P955T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P915T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P955T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P851T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	955	CUB 5.					integral to membrane|plasma membrane		p.P915T(1)|p.P955T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGATTTGGCCCATCATGA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	70					5.3912e-06	6.69469e-06	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179586740	179586740	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179586740T>G	ENST00000589042.1	-	78	22874	c.22650A>C	c.(22648-22650)aaA>aaC	p.K7550N	TTN_ENST00000342992.6_Missense_Mutation_p.K6306N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K7233N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7233	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K6306N(1)		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)			CCTTGTTATCTTTTGACCAAG	0.418000													25	280					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179399495	179399495	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179399495G>C	ENST00000589042.1	-	358	102071	c.101847C>G	c.(101845-101847)acC>acG	p.T33949T	TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Silent_p.T31381T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.T25009T|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.T25076T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T32308T|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Silent_p.T24884T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32308							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T31381T(1)|p.T25009T(1)|p.T24884T(1)|p.T31379T(1)|p.T25076T(1)		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)			AGCTTCTTCTGGTTTGGTAAA	0.393000													6	81					0	0	0.001168	0	0
OR2M4	26245	broad.mit.edu	37	1	248402589	248402589	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248402589A>T	ENST00000306687.1	+	1	359	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCATGGCTTATGACCGCTAT	0.468000													28	85					0	0	0.005443	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350242	134350242	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:134350242T>C	ENST00000275230.5	-	2	876	c.721A>G	c.(721-723)Aga>Gga	p.R241G		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	241						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.R241G(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAGAGTGCTCTTAACCTTCCA	0.423000													9	54					0	0	0.006214	0	0
ITGA4	3676	broad.mit.edu	37	2	182388919	182388919	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:182388919G>A	ENST00000397033.2	+	20	2621	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	731					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.D731N(1)		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)	CTTTCTCCTGGATGTGAGCTC	0.343000													4	45					0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130307991	130307991	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:130307991G>T	ENST00000358511.6	+	11	4214	c.4183G>T	c.(4183-4185)Ggc>Tgc	p.G1395C	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1395C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1395	Triple-helical region.				axon guidance|cell adhesion	collagen		p.G1395C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGAGGAGATGGCACAATGGG	0.438000													20	33					1.66031e-10	2.37398e-10	0.003954	1	0
TXLNG	55787	broad.mit.edu	37	X	16850763	16850763	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:16850763C>G	ENST00000380122.5	+	6	943	c.882C>G	c.(880-882)ttC>ttG	p.F294L	TXLNG_ENST00000398155.4_Missense_Mutation_p.F162L	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	294					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		p.F294L(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ATAAGGTGTTCAAACATAAGG	0.443000													20	183					0	0	0.008871	0	0
MSH4	4438	broad.mit.edu	37	1	76347000	76347000	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:76347000G>T	ENST00000263187.3	+	14	1955	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	617					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.V617V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTGACACTGTGTCAATGCTGG	0.343000								Mismatch excision repair (MMR)					10	61					0.000978159	0.00109979	0.000978	1	0
CCDC85A	114800	broad.mit.edu	37	2	56420064	56420064	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:56420064G>T	ENST00000407595.2	+	2	1231	c.729G>T	c.(727-729)gaG>gaT	p.E243D	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	243	His-rich.							p.E243D(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCCGGAGCGAGGGCAGCCCGG	0.667000													7	16					8.12818e-05	9.56608e-05	0.001984	1	0
PAH	5053	broad.mit.edu	37	12	103240676	103240676	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:103240676G>T	ENST00000553106.1	-	9	1438	c.966C>A	c.(964-966)gcC>gcA	p.A322A	PAH_ENST00000307000.2_Silent_p.A317A	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	322			A -> G (in PKU; haplotype 12).|A -> T (in PKU; haplotype 1).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.A322A(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GACTTACTGTGGCGAGCTTTT	0.488000													12	47					7.93312e-07	1.01963e-06	0.002450	1	0
COPB1	1315	broad.mit.edu	37	11	14515881	14515881	+	Missense_Mutation	SNP	C	C	G	rs147506345		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:14515881C>G	ENST00000249923.3	-	3	496	c.196G>C	c.(196-198)Gtg>Ctg	p.V66L	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.V66L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	66					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.V66L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGAGGTAGCACAAAACGAATG	0.363000													6	56					0	0	0.001168	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478689	21478689	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:21478689G>T	ENST00000281523.2	-	5	964	c.446C>A	c.(445-447)aCt>aAt	p.T149N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	149	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.T149N(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCCCTGCAGTACCGTCTGT	0.393000													14	98					8.60227e-14	1.33237e-13	0.004007	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110535564	110535564	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:110535564C>A	ENST00000378402.5	+	76	12537	c.12433C>A	c.(12433-12435)Ccg>Acg	p.P4145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P4149T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACAACAATTCCGTTTAGCAG	0.418000										HNSCC(38;0.096)			25	109					5.61819e-17	9.20122e-17	0.005443	1	0
DOCK10	55619	broad.mit.edu	37	2	225729692	225729692	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:225729692C>A	ENST00000409592.3	-	12	1465	c.1352G>T	c.(1351-1353)gGg>gTg	p.G451V	DOCK10_ENST00000258390.7_Missense_Mutation_p.G457V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	457							GTP binding	p.G457V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACAGAAGCCCCCAAGAGCAT	0.453000													29	171					7.11191e-15	1.12321e-14	0.002836	1	0
SLC12A1	6557	broad.mit.edu	37	15	48577341	48577341	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:48577341G>A	ENST00000396577.3	+	21	2739	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	SLC12A1_ENST00000380993.3_Missense_Mutation_p.E842K|SLC12A1_ENST00000558405.1_Missense_Mutation_p.E842K	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	842					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.E842K(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTAGCATTGGAAGCGACTAT	0.383000													34	96					0	0	0.005524	0	0
ESPL1	9700	broad.mit.edu	37	12	53663690	53663690	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:53663690C>T	ENST00000257934.4	+	3	1055	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	ESPL1_ENST00000552462.1_Silent_p.L322L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	322					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.L322L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATCAGCTGTCCTGAGCAAGAG	0.572000													12	23					0	0	0.002450	0	0
FOXI1	2299	broad.mit.edu	37	5	169535194	169535194	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:169535194C>T	ENST00000306268.6	+	2	777	c.716C>T	c.(715-717)cCg>cTg	p.P239L	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	239					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.P239L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAGTCTCCCGGTGGACAGC	0.572000									Pendred syndrome				6	44					0	0	0.001168	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608167	24608167	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:24608167G>T	ENST00000379145.1	-	4	449	c.405C>A	c.(403-405)ctC>ctA	p.L135L	PCYT1B_ENST00000379144.2_Silent_p.L153L|PCYT1B_ENST00000356768.4_Silent_p.L153L|PCYT1B_ENST00000492876.1_5'UTR	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	153	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.L153L(2)|p.L135L(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ACTCTGGCGTGAGTGTCCAGG	0.463000													9	35					2.27111e-07	2.97562e-07	0.001368	1	0
SORCS1	114815	broad.mit.edu	37	10	108412274	108412274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:108412274C>A	ENST00000263054.6	-	18	2348	c.2341G>T	c.(2341-2343)Gta>Tta	p.V781L	SORCS1_ENST00000369698.1_Missense_Mutation_p.V316L|SORCS1_ENST00000344440.6_Missense_Mutation_p.V781L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	781						integral to membrane	neuropeptide receptor activity|protein binding	p.V781L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493000													17	87					9.95505e-16	1.60783e-15	0.002299	1	0
IQSEC3	440073	broad.mit.edu	37	12	247543	247543	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:247543C>A	ENST00000538872.1	+	4	1132	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	IQSEC3_ENST00000382841.2_Silent_p.I35I|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.I338I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	338	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.I338I(1)|p.I35I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCGAGAAAATCCGCAACTCGC	0.632000													9	11					0.00448238	0.00494024	0.004482	1	0
CHRM3	1131	broad.mit.edu	37	1	240071724	240071724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:240071724G>T	ENST00000255380.4	+	5	1752	c.973G>T	c.(973-975)Gag>Tag	p.E325*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	325					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.E325*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCCAGCTCCGAGCAGATGGA	0.547000													8	18					0.00448238	0.00494024	0.004482	1	0
TRDN	10345	broad.mit.edu	37	6	123786080	123786080	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:123786080C>T	ENST00000334268.4	-	10	1219	c.902G>A	c.(901-903)aGa>aAa	p.R301K	TRDN_ENST00000546248.1_Missense_Mutation_p.R281K|TRDN_ENST00000398178.3_Missense_Mutation_p.R301K|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA			Q13061	TRDN_HUMAN	triadin	301					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R301K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CGGAGTGGGTCTGGAAGCTTG	0.388000													3	19					0	0	0.000602	0	0
MACF1	23499	broad.mit.edu	37	1	39812670	39812670	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:39812670G>A	ENST00000564288.1	+	41	11380	c.10603G>A	c.(10603-10605)Gaa>Aaa	p.E3535K	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E3540K|MACF1_ENST00000289893.4_Missense_Mutation_p.E1975K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3572K|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3540					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.E1975K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCCATGGCTGAAAGGAAAGC	0.413000													8	59					0	0	0.004482	0	0
NLRP3	114548	broad.mit.edu	37	1	247587920	247587920	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:247587920C>A	ENST00000366497.2	+	4	1955	c.1175C>A	c.(1174-1176)gCc>gAc	p.A392D	NLRP3_ENST00000336119.3_Missense_Mutation_p.A392D|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A392D|NLRP3_ENST00000391828.3_Missense_Mutation_p.A392D|NLRP3_ENST00000348069.2_Missense_Mutation_p.A392D|NLRP3_ENST00000391827.2_Missense_Mutation_p.A392D	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	392	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A392D(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGGCCCAAGCCAGGGCAGCC	0.542000													16	54					3.41278e-10	4.84736e-10	0.004990	1	0
LRRK2	120892	broad.mit.edu	37	12	40643696	40643696	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:40643696C>G	ENST00000298910.7	+	8	965	c.907C>G	c.(907-909)Cca>Gca	p.P303A	LRRK2_ENST00000343742.2_Missense_Mutation_p.P303A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	303					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.P303A(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAGCAGTACCCAGAGAATGC	0.408000													11	32					0	0	0.008291	0	0
EXOC7	23265	broad.mit.edu	37	17	74080340	74080340	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:74080340C>G	ENST00000607838.1	-	18	1970	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q	EXOC7_ENST00000405575.4_Intron|EXOC7_ENST00000467929.2_Missense_Mutation_p.E575Q|EXOC7_ENST00000411744.2_Missense_Mutation_p.E595Q|EXOC7_ENST00000332065.5_Missense_Mutation_p.E572Q|EXOC7_ENST00000335146.7_Missense_Mutation_p.E654Q|EXOC7_ENST00000589210.1_Missense_Mutation_p.E603Q	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	654					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	p.E603Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTAAAACGCTCCTTGATAATC	0.552000													4	39					0	0	0.000602	0	0
THSD7A	221981	broad.mit.edu	37	7	11485953	11485953	+	Splice_Site	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:11485953T>C	ENST00000423059.3	-	13	3052		c.e13-2		AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane		p.?(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACTTTTTCCTGTGGAAGAGA	0.323000										HNSCC(18;0.044)			56	214					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21628134	21628134	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:21628134A>T	ENST00000328843.6	+	11	1884	c.1853A>T	c.(1852-1854)gAa>gTa	p.E618V	DNAH11_ENST00000409508.3_Missense_Mutation_p.E618V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E618V(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGCAGATTGAATGTGGTCAT	0.373000									Kartagener syndrome				37	148					0	0	0.009718	0	0
KCTD3	51133	broad.mit.edu	37	1	215747182	215747182	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:215747182G>T	ENST00000259154.4	+	2	431	c.137_splice	c.e2+1	p.S46_splice		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	46	BTB.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.S46I(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTTTTTTCCAGGTATGTCTTA	0.239000													13	143					7.03913e-09	9.65624e-09	0.001368	1	0
INHBA	3624	broad.mit.edu	37	7	41730010	41730010	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:41730010G>T	ENST00000242208.4	-	3	765	c.519C>A	c.(517-519)atC>atA	p.I173I	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.I173I	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	173					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I173I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGAAGAGGCGGATGGTGACTT	0.577000										TSP Lung(11;0.080)			17	67					1.45105e-14	2.27491e-14	0.006122	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151121977	151121977	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:151121977G>C	ENST00000367328.1	+	7	1064	c.752G>C	c.(751-753)cGg>cCg	p.R251P	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R251P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	251	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R251Q(1)|p.R251P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAGTTCAGCGGATTCTCAAG	0.458000													8	77					0	0	0.003080	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259389	32259389	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:32259389C>A	ENST00000360482.2	-	12	2622	c.2493G>T	c.(2491-2493)atG>atT	p.M831I	SPOCD1_ENST00000533231.1_Missense_Mutation_p.M831I|SPOCD1_ENST00000257100.3_Missense_Mutation_p.M324I|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	831					transcription, DNA-dependent			p.M831I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGTTTTGGGCATCTCTGGAG	0.592000													19	128					4.35082e-09	6.0394e-09	0.010504	1	0
BAGE2	85319	broad.mit.edu	37	21	11039277	11039277	+	RNA	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:11039277C>G	ENST00000470054.1	-	0	926									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)		TCTTGCTGCACAGTGATCTGG	0.393000													17	295					0	0	0.004990	0	0
TNN	63923	broad.mit.edu	37	1	175046880	175046880	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:175046880T>A	ENST00000239462.4	+	2	439	c.326T>A	c.(325-327)cTg>cAg	p.L109Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	109					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.L109Q(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGGACCTCCTGGCCCGGGTG	0.602000													7	34					0	0	0.001984	0	0
SI	6476	broad.mit.edu	37	3	164777717	164777717	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:164777717C>G	ENST00000264382.3	-	10	1181	c.1119G>C	c.(1117-1119)agG>agC	p.R373S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	373	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R373S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCGGTTTCTCCTTACCACTT	0.383000										HNSCC(35;0.089)			7	420					0	0	0.006214	0	0
DGCR14	8220	broad.mit.edu	37	22	19127438	19127438	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:19127438A>G	ENST00000252137.6	-	4	543	c.500T>C	c.(499-501)aTg>aCg	p.M167T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	167					nervous system development	catalytic step 2 spliceosome		p.M167T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCCACCTCCATGATCTCCTG	0.602000													7	122					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179447730	179447730	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179447730A>G	ENST00000589042.1	-	313	66024	c.65800T>C	c.(65800-65802)Tat>Cat	p.Y21934H	TTN_ENST00000342992.6_Missense_Mutation_p.Y19366H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12994H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13061H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20293H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12869H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20293	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y12994H(1)|p.Y13061H(1)|p.Y19366H(1)|p.Y12869H(1)|p.Y19364H(1)		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)			GTAATGGTATAGTCTCCTGAG	0.423000													3	42					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237886431	237886431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:237886431G>T	ENST00000366574.2	+	74	10875	c.10558G>T	c.(10558-10560)Gag>Tag	p.E3520*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3504*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3518*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3520					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3518*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGCAGTTGGAGGATCCTGC	0.388000													57	171					7.91745e-34	1.3926e-33	0.003610	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558124	170558124	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:170558124C>G	ENST00000359744.3	+	4	1031	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	215							metal ion binding|pyridoxal phosphatase activity	p.L215V(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GTCTCAAAATCTTGAGCCTAT	0.338000													10	93					0	0	0.000978	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003553	52003553	+	Splice_Site	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:52003553C>G	ENST00000291707.3	-	2	484	c.427_splice	c.e2-1	p.A143_splice	SIGLEC12_ENST00000598614.1_Silent_p.A25A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	143	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding	p.A143A(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTCCTGGGACGCTGTGGAGA	0.607000													12	38					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32021402	32021402	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:32021402C>T	ENST00000375244.3	-	25	8755	c.8554G>A	c.(8554-8556)Gtg>Atg	p.V2852M	TNXB_ENST00000375247.2_Missense_Mutation_p.V2850M			P22105	TENX_HUMAN	tenascin XB	2899	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V2852M(1)|p.V2928M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCATCTGTCACGGTCAGCTCC	0.632000													5	78					0	0	0.000602	0	0
SBF1	6305	broad.mit.edu	37	22	50906112	50906112	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:50906112G>C	ENST00000380817.2	-	4	470	c.287C>G	c.(286-288)aCg>aGg	p.T96R	SBF1_ENST00000348911.6_Missense_Mutation_p.T97R|SBF1_ENST00000390679.3_Missense_Mutation_p.T96R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	96					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.T96R(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCACGCGCGTCGTTTCCTG	0.652000													4	20					0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26686933	26686933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:26686933G>T	ENST00000272371.2	-	40	5128	c.5002C>A	c.(5002-5004)Ctg>Atg	p.L1668M	OTOF_ENST00000402415.3_Missense_Mutation_p.L978M|OTOF_ENST00000403946.3_Missense_Mutation_p.L1668M|OTOF_ENST00000338581.6_Missense_Mutation_p.L901M|OTOF_ENST00000339598.3_Missense_Mutation_p.L901M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1668					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.L978M(1)|p.L901M(1)|p.L1668M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGCCTCAGGGCCAACAGC	0.657000													18	72					3.32936e-07	4.34441e-07	0.006122	1	0
XIRP2	129446	broad.mit.edu	37	2	168099600	168099600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:168099600G>A	ENST00000409195.1	+	9	1787	c.1698G>A	c.(1696-1698)tgG>tgA	p.W566*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.W344*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.W566*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	391					actin cytoskeleton organization	cell junction	actin binding	p.W566*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTGGAATGGGATGAAATTC	0.403000													10	30					0	0	0.008291	0	0
SBF2	81846	broad.mit.edu	37	11	9853807	9853807	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:9853807C>A	ENST00000256190.8	-	27	3753	c.3616G>T	c.(3616-3618)Gtt>Ttt	p.V1206F		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1206	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.V1206I(1)|p.V1206F(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAAGACCAACGACTCCCTTC	0.473000													10	32					9.70103e-10	1.3688e-09	0.008291	1	0
EIF3B	8662	broad.mit.edu	37	7	2406159	2406159	+	Splice_Site	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:2406159G>A	ENST00000360876.4	+	8	1345		c.e8-1		EIF3B_ENST00000397011.2_Splice_Site	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.?(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTTTTTCTTAGGTGGAGCCAT	0.468000													34	115					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179639722	179639722	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179639722G>C	ENST00000589042.1	-	29	6940	c.6716C>G	c.(6715-6717)tCt>tGt	p.S2239C	TTN_ENST00000342992.6_Missense_Mutation_p.S2239C|TTN_ENST00000359218.5_Missense_Mutation_p.S2193C|TTN_ENST00000342175.6_Missense_Mutation_p.S2193C|TTN_ENST00000591111.1_Missense_Mutation_p.S2239C|TTN_ENST00000460472.2_Missense_Mutation_p.S2193C|TTN_ENST00000360870.5_Missense_Mutation_p.S2239C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1971	Ig-like 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2239C(3)|p.S2193C(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCATCAGACGTATCAAT	0.388000													9	57					0	0	0.006214	0	0
ABCC11	85320	broad.mit.edu	37	16	48256525	48256525	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:48256525T>C	ENST00000394747.1	-	5	1110	c.761A>G	c.(760-762)cAc>cGc	p.H254R	ABCC11_ENST00000537808.1_Missense_Mutation_p.H254R|ABCC11_ENST00000353782.5_Missense_Mutation_p.H254R|ABCC11_ENST00000394748.1_Missense_Mutation_p.H254R|ABCC11_ENST00000356608.2_Missense_Mutation_p.H254R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	254	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H254R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGAGGTGATGTGTATTACAGA	0.532000													19	63					0	0	0.007413	0	0
NBPF1	55672	broad.mit.edu	37	1	16907946	16907946	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:16907946C>G	ENST00000430580.2	-	15	2235	c.1348G>C	c.(1348-1350)Gct>Cct	p.A450P		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	450	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTTTCTCAGCCTCCTCAACT	0.428000													25	936					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179649066	179649066	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179649066C>G	ENST00000589042.1	-	16	2730	c.2506G>C	c.(2506-2508)Ggt>Cgt	p.G836R	TTN_ENST00000342992.6_Missense_Mutation_p.G836R|TTN_ENST00000359218.5_Missense_Mutation_p.G790R|TTN_ENST00000342175.6_Missense_Mutation_p.G790R|TTN_ENST00000591111.1_Missense_Mutation_p.G836R|TTN_ENST00000460472.2_Missense_Mutation_p.G790R|TTN_ENST00000360870.5_Missense_Mutation_p.G836R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G836R(3)|p.G790R(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCACTACCGGCTATTGAT	0.453000													13	48					0	0	0.001855	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197981	142197981	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142197981C>A	ENST00000471935.1	-	0	88																											AGACAGAGGGCCGCCTAGCAG	0.517000													13	54					1.05317e-09	1.48113e-09	0.002450	1	0
PRH1	5554	broad.mit.edu	37	12	11036773	11036773	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:11036773G>A	ENST00000428168.2	-	1	81	c.44C>T	c.(43-45)tCa>tTa	p.S15L	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	15						extracellular space	protein binding	p.S15L(1)		endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		ATCCTGAGCTGAGCTGAAGGC	0.493000													45	49					0	0	0.003610	0	0
KDELR3	11015	broad.mit.edu	37	22	38864286	38864286	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:38864286G>C	ENST00000216014.4	+	1	220	c.48G>C	c.(46-48)atG>atC	p.M16I	KDELR3_ENST00000409006.3_Missense_Mutation_p.M16I	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	16					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	p.M16I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TCCTGGCCATGATCTTGCTGC	0.637000													8	38					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82581843	82581843	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:82581843C>G	ENST00000423517.2	-	5	8763	c.8426G>C	c.(8425-8427)gGc>gCc	p.G2809A	PCLO_ENST00000333891.8_Missense_Mutation_p.G2809A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2740					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G2809A(2)|p.G2740A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTTCTGTGCCTGTAGTGTA	0.463000													7	80					0	0	0.003080	0	0
IRAK2	3656	broad.mit.edu	37	3	10255175	10255175	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:10255175G>T	ENST00000256458.4	+	6	821	c.731G>T	c.(730-732)tGt>tTt	p.C244F		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	244	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.C244F(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGACAGCCTGTTCAAGTCCA	0.473000													23	51					1.37878e-21	2.35107e-21	0.003330	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762884	130762884	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:130762884G>T	ENST00000392429.1	+	2	3695	c.1317G>T	c.(1315-1317)ccG>ccT	p.P439P	TMEM200A_ENST00000545622.1_Silent_p.P439P|TMEM200A_ENST00000296978.3_Silent_p.P439P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	439						integral to membrane		p.P439P(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGAAGACCCGATGGATAGGT	0.413000													9	52					0.00829132	0.0090374	0.008291	1	0
LHPP	64077	broad.mit.edu	37	10	126205795	126205795	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:126205795A>T	ENST00000368842.5	+	6	699	c.671A>T	c.(670-672)cAg>cTg	p.Q224L	LHPP_ENST00000368839.1_Intron	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	224					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	p.Q224L(1)		large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGCGGTGCCCAGCGGTGTGGA	0.567000													6	19					0	0	0.001984	0	0
DAB2	1601	broad.mit.edu	37	5	39393393	39393393	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:39393393C>T	ENST00000320816.6	-	3	661	c.194G>A	c.(193-195)gGg>gAg	p.G65E	DAB2_ENST00000509337.1_Missense_Mutation_p.G65E|DAB2_ENST00000339788.6_Missense_Mutation_p.G65E|DAB2_ENST00000545653.1_Missense_Mutation_p.G65E	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	65	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTTTATCCCCTCTTGCATC	0.373000													4	145					0	0	0.009096	0	0
TMEM177	80775	broad.mit.edu	37	2	120439110	120439110	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:120439110G>A	ENST00000424086.1	+	2	1154	c.681G>A	c.(679-681)gtG>gtA	p.V227V	TMEM177_ENST00000401466.1_Silent_p.V227V|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.V227V	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	227						integral to membrane		p.V227V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CTCATGCCGTGGAGTCCTGGC	0.612000													5	66					0	0	0.000602	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259661	79259661	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:79259661G>T	ENST00000428286.1	-	12	8848	c.7648C>A	c.(7648-7650)Cac>Aac	p.H2550N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.H2908N|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.H157N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.H173N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2908					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.H2908N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTACCTCCGTGAGAAATGACT	0.498000													25	50					1.12875e-08	1.54347e-08	0.006320	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23815726	23815726	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:23815726G>A	ENST00000264867.2	-	8	1499	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	460					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.A460D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTTCAGCTCGGCTCGGATTT	0.498000													16	55					0	0	0.004007	0	0
DIEXF	27042	broad.mit.edu	37	1	210012330	210012330	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:210012330G>T	ENST00000491415.2	+	7	1196	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	380					multicellular organismal development	nucleus		p.S380I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAGGGTGACAGCAAGAAGAAA	0.512000													36	114					9.8876e-21	1.68155e-20	0.004878	1	0
MYO7B	4648	broad.mit.edu	37	2	128394410	128394410	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:128394410G>T	ENST00000389524.4	+	46	6227	c.6174G>T	c.(6172-6174)tgG>tgT	p.W2058C	MYO7B_ENST00000428314.1_Missense_Mutation_p.W2057C|MYO7B_ENST00000409816.2_Missense_Mutation_p.W2057C|MYO7B_ENST00000409090.1_Missense_Mutation_p.W910C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2057	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.W2301C(1)|p.W2057C(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTCCAGCTGGAGCAGCGGCA	0.657000													6	94					0.00116845	0.00130459	0.001168	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453626	84453626	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:84453626A>T	ENST00000377084.2	-	1	2902	c.2017T>A	c.(2017-2019)Tgg>Agg	p.W673R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	673						integral to membrane		p.W673R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCATTGTGCCAGTAGGAAGAG	0.547000													6	34					0	0	0.003080	0	0
ANO5	203859	broad.mit.edu	37	11	22242707	22242707	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:22242707T>C	ENST00000324559.8	+	5	562	c.245T>C	c.(244-246)tTt>tCt	p.F82S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	82						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.F82S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAATTGATTTTGTGCTTTCC	0.333000													11	29					0	0	0.001368	0	0
EPHB6	2051	broad.mit.edu	37	7	142561083	142561083	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142561083A>T	ENST00000392957.2	+	5	885	c.98A>T	c.(97-99)gAa>gTa	p.E33V	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.E33V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	33						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E18V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGCTCTGGAAGGTAAGAGG	0.542000													13	37					0	0	0.001368	0	0
LAMA5	3911	broad.mit.edu	37	20	60885534	60885534	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:60885534A>T	ENST00000252999.3	-	76	10607	c.10541T>A	c.(10540-10542)aTc>aAc	p.I3514N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3514					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.I3514N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGCCCAAGATGCAGGGTGT	0.667000													10	48					0	0	0.006214	0	0
TGM6	343641	broad.mit.edu	37	20	2377251	2377251	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:2377251A>T	ENST00000202625.2	+	4	585	c.524A>T	c.(523-525)cAg>cTg	p.Q175L	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.Q175L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	175					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q175L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATACGAGCCCAGGGCTGGAAC	0.622000													12	20					0	0	0.001855	0	0
DHPS	1725	broad.mit.edu	37	19	12790352	12790352	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:12790352T>C	ENST00000210060.7	-	5	732	c.597A>G	c.(595-597)gtA>gtG	p.V199V	DHPS_ENST00000351660.5_Silent_p.V199V|DHPS_ENST00000594424.1_Silent_p.V157V	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	199				V -> A (in Ref. 3; AAB02175/AAB02179).	peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	p.V199V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GCGTCCACTTTACACCCTAGG	0.597000													52	89					0	0	0.003610	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417509	28417509	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:28417509G>A	ENST00000394835.3	+	20	3946	c.3754G>A	c.(3754-3756)Gta>Ata	p.V1252I	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.V1128I|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1252			V -> A (in dbSNP:rs4499292).				calcium ion binding	p.V1252I(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AACGCATATAGTAGTTCCACT	0.403000													15	108					0	0	0.003163	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661354	113661354	+	RNA	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:113661354G>A	ENST00000393544.2	+	0	1402																											TAGATAACCTGGAAACCATGC	0.473000													18	104					0	0	0.007413	0	0
CACNA1E	777	broad.mit.edu	37	1	181726202	181726202	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:181726202C>G	ENST00000526775.1	+	29	4377	c.4212C>G	c.(4210-4212)atC>atG	p.I1404M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1374M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1423M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1355M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1404M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1030M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1423M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1423					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1423M(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCTCATCATCATCACCTTCC	0.483000													4	49					0	0	0.000602	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30791821	30791821	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:30791821G>T	ENST00000458257.1	+	1	69	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Missense_Mutation_p.D19Y|INMT_ENST00000409539.1_Missense_Mutation_p.D19Y														p.D19Y(1)									CCTGCCCAGGGACTACTTGGC	0.552000													26	95					6.12954e-19	1.02612e-18	0.004656	1	0
MYPN	84665	broad.mit.edu	37	10	69882003	69882003	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:69882003C>T	ENST00000358913.5	+	2	1296	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	MYPN_ENST00000373675.3_Missense_Mutation_p.R270W|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R270W	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	270	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.R270W(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAACCTCCCCGGTTCACTCA	0.517000													4	41					0	0	0.009096	0	0
RGS3	5998	broad.mit.edu	37	9	116247969	116247969	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:116247969T>G	ENST00000374140.2	+	8	894	c.685T>G	c.(685-687)Tcc>Gcc	p.S229A	RGS3_ENST00000350696.5_Missense_Mutation_p.S229A|RGS3_ENST00000317613.6_Missense_Mutation_p.S117A	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	229	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.S117A(1)|p.S229A(1)|p.S125A(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCAGCCAGTCCAGGTGAGG	0.557000													6	10					0	0	0.003080	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255470	110255470	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:110255470T>A	ENST00000239690.4	-	10	1894	c.1520A>T	c.(1519-1521)tAt>tTt	p.Y507F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.Y478F	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	507								p.Y507F(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AAGGGCTGCATACGAGTAATT	0.418000													78	227					0	0	0.003610	0	0
SBF2	81846	broad.mit.edu	37	11	9990064	9990064	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:9990064T>C	ENST00000256190.8	-	14	1561	c.1424A>G	c.(1423-1425)cAg>cGg	p.Q475R		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	475					myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.Q475R(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGGAACTTTCTGGAATGCCAT	0.413000													24	95					0	0	0.003954	0	0
SLFN11	91607	broad.mit.edu	37	17	33690603	33690603	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:33690603A>T	ENST00000394566.1	-	4	496	c.224T>A	c.(223-225)cTg>cAg	p.L75Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.L75Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	75						nucleus	ATP binding	p.L75Q(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCTAAATCCAGTCCCATCTC	0.438000													24	114					0	0	0.002780	0	0
DCC	1630	broad.mit.edu	37	18	50831975	50831975	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:50831975C>T	ENST00000442544.2	+	13	2555	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	DCC_ENST00000412726.1_Missense_Mutation_p.P495S|DCC_ENST00000581580.1_Missense_Mutation_p.P302S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	647	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P647S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTGCCTCCTCCATCAGGAAC	0.423000													13	66					0	0	0.001855	0	0
FMN2	56776	broad.mit.edu	37	1	240370908	240370908	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:240370908C>A	ENST00000319653.9	+	5	3026	c.2796C>A	c.(2794-2796)ctC>ctA	p.L932L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	932	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1075L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGCATACTCCCTCTGCCCC	0.692000													19	39					1.33834e-09	1.87601e-09	0.007413	1	0
HTR3A	3359	broad.mit.edu	37	11	113860292	113860292	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:113860292T>G	ENST00000504030.2	+	9	1689	c.1244T>G	c.(1243-1245)gTg>gGg	p.V415G	HTR3A_ENST00000506841.2_Missense_Mutation_p.V447G|HTR3A_ENST00000355556.2_Missense_Mutation_p.V453G|HTR3A_ENST00000375498.2_Missense_Mutation_p.V421G|HTR3A_ENST00000299961.5_Missense_Mutation_p.V400G|HTR3A_ENST00000535865.1_Missense_Mutation_p.V159G			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	415	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.V447G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCGCTGGCGGTGTGTGGGCTG	0.657000													7	82					0	0	0.004482	0	0
CADPS2	93664	broad.mit.edu	37	7	122261607	122261607	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:122261607T>C	ENST00000334010.7	-	5	1453	c.1032A>G	c.(1030-1032)gcA>gcG	p.A344A	CADPS2_ENST00000412584.2_Silent_p.A344A|CADPS2_ENST00000313070.7_Silent_p.A344A|CADPS2_ENST00000449022.2_Silent_p.A344A	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	344					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.A344A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTCCAAAAATGCAGAGTTCT	0.398000													39	131					0	0	0.008740	0	0
KHNYN	23351	broad.mit.edu	37	14	24901200	24901200	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:24901200T>A	ENST00000251343.5	+	3	872	c.733T>A	c.(733-735)Tgc>Agc	p.C245S	KHNYN_ENST00000556842.1_Missense_Mutation_p.C245S|KHNYN_ENST00000553935.1_Missense_Mutation_p.C245S			O15037	KHNYN_HUMAN	KH and NYN domain containing	245								p.C245S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACCCGGAGATTGCAGGGGAGC	0.622000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	46					0	0	0.004007	0	0
USP7	7874	broad.mit.edu	37	16	8995999	8995999	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:8995999C>T	ENST00000344836.4	-	18	2185	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	USP7_ENST00000381886.4_Missense_Mutation_p.E647K|USP7_ENST00000535863.1_Missense_Mutation_p.E564K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	663	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E663K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCAACTGTTTCCAGGAATATT	0.458000													5	76					0	0	0.000602	0	0
OR5T3	390154	broad.mit.edu	37	11	56019823	56019823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:56019823G>T	ENST00000303059.3	+	1	148	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D50Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTTCACAGATGATTTTGAGCT	0.373000													12	50					0.00136819	0.00152629	0.001368	1	0
BMS1	9790	broad.mit.edu	37	10	43292122	43292122	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:43292122A>G	ENST00000374518.4	+	10	1493	c.1430A>G	c.(1429-1431)tAt>tGt	p.Y477C		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	477					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.Y477C(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTGATCAGTATATGGCTGTT	0.448000													6	56					0	0	0.001168	0	0
FETUB	26998	broad.mit.edu	37	3	186370413	186370413	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:186370413C>A	ENST00000265029.3	+	7	1243	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	FETUB_ENST00000382134.3_Missense_Mutation_p.P316Q|FETUB_ENST00000382136.3_Missense_Mutation_p.P344Q|FETUB_ENST00000539949.1_Missense_Mutation_p.P233Q|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.P381Q|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	381						extracellular space	cysteine-type endopeptidase inhibitor activity	p.P381Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTGTCCTTCCGCCATGAGAA	0.582000													15	20					9.7654e-05	0.000114719	0.007413	1	0
C10orf107	219621	broad.mit.edu	37	10	63519868	63519868	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:63519868G>A	ENST00000330194.2	+	5	645	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	114								p.E114K(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AAATCCTCTGGAAGAAGGAAT	0.398000													5	65					0	0	0.000602	0	0
SOX13	9580	broad.mit.edu	37	1	204095176	204095176	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:204095176G>C	ENST00000367204.1	+	14	1892	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	595					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D595H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCGGTGGCTGATGGCGAGAT	0.612000													6	47					0	0	0.003080	0	0
CACNA1D	776	broad.mit.edu	37	3	53760933	53760933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:53760933G>T	ENST00000288139.3	+	16	2306	c.2188G>T	c.(2188-2190)Gtg>Ttg	p.V730L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V710L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V710L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	710					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V730L(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGGAATGCTGTGATGTACGA	0.507000													38	114					2.87052e-16	4.6596e-16	0.005524	1	0
SMOC1	64093	broad.mit.edu	37	14	70461123	70461123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:70461123C>A	ENST00000381280.4	+	7	843	c.590C>A	c.(589-591)aCa>aAa	p.T197K	SMOC1_ENST00000361956.3_Missense_Mutation_p.T197K	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	197					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.T197K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTAGAAATCACAGCCCCAACT	0.383000													12	331					9.31168e-06	1.14853e-05	0.001855	1	0
RC3H1	149041	broad.mit.edu	37	1	173915621	173915621	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:173915621C>T	ENST00000367696.2	-	17	3305	c.2954G>A	c.(2953-2955)gGa>gAa	p.G985E	RC3H1_ENST00000258349.4_Missense_Mutation_p.G985E|RC3H1_ENST00000367694.2_Missense_Mutation_p.G985E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	985					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.G985E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TACCTCTAGTCCACGTAGCTG	0.433000													6	87					0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882720	228882720	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:228882720G>T	ENST00000392056.3	-	7	2896	c.2850C>A	c.(2848-2850)gaC>gaA	p.D950E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D950E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	950						cytoplasm	protein binding	p.D950E(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGGAGTTGTCAAGGCAAA	0.468000													13	105					5.50884e-06	6.82097e-06	0.001368	1	0
GRIA4	2893	broad.mit.edu	37	11	105836774	105836774	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:105836774G>A	ENST00000393127.2	+	15	2841	c.2395G>A	c.(2395-2397)Gga>Aga	p.G799R	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.G799R|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000530497.1_Intron	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	799					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G799R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGCAGCGGGGGAGGTGACTC	0.443000													5	29					0	0	0.001168	0	0
ORC5	5001	broad.mit.edu	37	7	103828716	103828716	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:103828716T>C	ENST00000545943.1	-	7	896	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	ORC5_ENST00000447452.2_Missense_Mutation_p.K223E|ORC5_ENST00000297431.4_Missense_Mutation_p.K223E|ORC5_ENST00000485726.1_5'UTR			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	223					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.K223E(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGAGCTCTTTCAAATCTCGA	0.348000													28	64					0	0	0.004656	0	0
GLRA1	2741	broad.mit.edu	37	5	151231016	151231016	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:151231016G>T	ENST00000274576.4	-	7	1139	c.847C>A	c.(847-849)Cta>Ata	p.L283I	GLRA1_ENST00000545569.1_Missense_Mutation_p.L200I|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.L283I	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	283					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.L283I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGATGCCTAGGCCCACACGA	0.537000													16	41					1.56452e-12	2.37453e-12	0.007413	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229661	160229661	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160229661G>A	ENST00000392783.2	-	27	4603	c.4108C>T	c.(4108-4110)Cac>Tac	p.H1370Y	BAZ2B_ENST00000392782.1_Missense_Mutation_p.H1334Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H1336Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.H1270Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H1370Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGCAATGAGTGAGACGCATCA	0.408000													20	43					0	0	0.002299	0	0
ZNF777	27153	broad.mit.edu	37	7	149129541	149129541	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:149129541C>T	ENST00000247930.4	-	6	2145	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G608W(1)|p.G608R(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AACGTGGGCCCGCGTTCGGGT	0.677000													34	103					0	0	0.002836	0	0
LAMA1	284217	broad.mit.edu	37	18	6959383	6959383	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:6959383T>A	ENST00000389658.3	-	54	7828	c.7735A>T	c.(7735-7737)Agt>Tgt	p.S2579C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2579	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.S2579C(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCATCACTGCAGGTACCC	0.557000													24	57					0	0	0.005443	0	0
DDX60L	91351	broad.mit.edu	37	4	169362572	169362572	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:169362572C>A	ENST00000511577.1	-	10	1457	c.1210G>T	c.(1210-1212)Gtt>Ttt	p.V404F	DDX60L_ENST00000260184.7_Missense_Mutation_p.V404F|DDX60L_ENST00000505890.1_Missense_Mutation_p.V404F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	404							ATP binding|ATP-dependent helicase activity|RNA binding	p.V404F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATTCTTTAACCAGGTGTGAC	0.343000													26	83					8.58068e-18	1.41614e-17	0.007291	1	0
ALG3	10195	broad.mit.edu	37	3	183960451	183960451	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:183960451C>A	ENST00000455059.1	-	9	1502	c.1048G>T	c.(1048-1050)Ggg>Tgg	p.G350W	ALG3_ENST00000445626.2_Missense_Mutation_p.G342W|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.G390W|ALG3_ENST00000418734.2_Missense_Mutation_p.G334W			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	390					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.G390W(1)|p.G342W(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGATGAGCCCCAGCACCAAC	0.567000													8	12					1.12685e-05	1.37275e-05	0.004482	1	0
LYST	1130	broad.mit.edu	37	1	235907394	235907394	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:235907394G>A	ENST00000389794.3	-	30	8210	c.8036C>T	c.(8035-8037)tCa>tTa	p.S2679L	LYST_ENST00000389793.2_Missense_Mutation_p.S2679L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2679					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.S2679L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAAAACTGAGGTCTTGCT	0.294000													15	92					0	0	0.004990	0	0
ZHX1	11244	broad.mit.edu	37	8	124265929	124265929	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:124265929C>A	ENST00000395571.3	-	3	2875	c.2258G>T	c.(2257-2259)aGa>aTa	p.R753I	ZHX1_ENST00000297857.2_Missense_Mutation_p.R753I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.R753I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	753	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R753I(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGTCTTCCTCTTCCCCGTCC	0.458000													25	99					7.07758e-08	9.40747e-08	0.004656	1	0
ZNF440	126070	broad.mit.edu	37	19	11943358	11943358	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:11943358G>A	ENST00000304060.5	+	4	1531	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R456K(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGGAGAAAGACGTTATAAA	0.363000													6	38					0	0	0.001168	0	0
MLIP	90523	broad.mit.edu	37	6	54095709	54095709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:54095709C>A	ENST00000502396.1	+	12	2948	c.2916C>A	c.(2914-2916)tgC>tgA	p.C972*	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000274897.5_Nonsense_Mutation_p.C437*|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	437						nuclear envelope|PML body	protein binding	p.C437*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAACGCATGCAACAAGGTGA	0.448000													25	70					7.41945e-09	1.01563e-08	0.005443	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795348	100795348	+	Nonsense_Mutation	SNP	G	G	T	rs147730585		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:100795348G>T	ENST00000361529.3	+	5	691	c.613G>T	c.(613-615)Gag>Tag	p.E205*	SLC25A47_ENST00000557052.1_Nonsense_Mutation_p.E59*	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	205					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.E205*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGTCCTCTGCGAGTGGCTCAG	0.667000													8	19					0.000274275	0.000314437	0.004482	1	0
TPI1	7167	broad.mit.edu	37	12	6978433	6978433	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:6978433G>T	ENST00000229270.4	+	4	784	c.447G>T	c.(445-447)caG>caT	p.Q149H	TPI1_ENST00000488464.2_Missense_Mutation_p.Q30H|TPI1_ENST00000396705.5_Missense_Mutation_p.Q112H|TPI1_ENST00000535434.1_Missense_Mutation_p.Q30H	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	112					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.Q149H(1)|p.Q112H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TGATTGGGCAGAAAGTGGCCC	0.498000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	412					5.73435e-26	9.89638e-26	0.003610	1	0
ZCWPW2	152098	broad.mit.edu	37	3	28454784	28454784	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:28454784A>G	ENST00000383768.2	+	3	413	c.225A>G	c.(223-225)gaA>gaG	p.E75E	ZCWPW2_ENST00000421010.1_Silent_p.E75E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	75							zinc ion binding	p.E75E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CAATTTCTGAAGAAGACTTCC	0.388000													26	57					0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168100447	168100447	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:168100447C>G	ENST00000409195.1	+	9	2634	c.2545C>G	c.(2545-2547)Cca>Gca	p.P849A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P627A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P849A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	674					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAACCCAGCCATTAGACAT	0.368000													3	150					0	0	0.004672	0	0
DNAH17	8632	broad.mit.edu	37	17	76475672	76475672	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:76475672C>A	ENST00000389840.5	-	50	7877	c.7753G>T	c.(7753-7755)Gcc>Tcc	p.A2585S	DNAH17_ENST00000585328.1_Missense_Mutation_p.A2594S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.A2594S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGTGAGGGCCTCCTGGCCG	0.617000													10	77					3.07112e-06	3.86221e-06	0.000978	1	0
CACNA1D	776	broad.mit.edu	37	3	53694253	53694253	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:53694253C>T	ENST00000288139.3	+	5	835	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CACNA1D_ENST00000350061.5_Silent_p.L239L|CACNA1D_ENST00000422281.2_Silent_p.L239L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	239					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L239L(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAAAGCCCTCCGTGCCTTTC	0.458000													17	33					0	0	0.007413	0	0
C11orf42	160298	broad.mit.edu	37	11	6231720	6231720	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:6231720C>G	ENST00000316375.2	+	2	763	c.713C>G	c.(712-714)cCc>cGc	p.P238R		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	238	Pro-rich.							p.P238R(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTGGCCCCCACATCAGCA	0.622000													17	60					0	0	0.007413	0	0
ATRNL1	26033	broad.mit.edu	37	10	117045739	117045739	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:117045739A>G	ENST00000355044.3	+	15	2373	c.2247A>G	c.(2245-2247)ggA>ggG	p.G749G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	749	PSI 3.					integral to membrane	sugar binding	p.G749G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCTTTGTGGAGAAGGATGGA	0.308000													7	47					0	0	0.004482	0	0
NOVA1	4857	broad.mit.edu	37	14	26949200	26949200	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:26949200G>C	ENST00000539517.2	-	3	747	c.430C>G	c.(430-432)Cca>Gca	p.P144A	NOVA1_ENST00000574031.1_Missense_Mutation_p.P144A|NOVA1_ENST00000547619.1_Missense_Mutation_p.P144A|NOVA1_ENST00000267422.7_Missense_Mutation_p.P22A|NOVA1_ENST00000344429.5_Missense_Mutation_p.P144A|NOVA1_ENST00000465357.2_Missense_Mutation_p.P144A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	147					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.P144A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGCGATCTGGATTAACGGTG	0.398000													24	116					0	0	0.005443	0	0
CNOT10	25904	broad.mit.edu	37	3	32745455	32745455	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:32745455G>T	ENST00000328834.5	+	2	433		c.e2+1		CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGCTTTCACAGTAAGAAATGG	0.388000													13	59					2.27111e-07	2.97562e-07	0.001368	1	0
SLITRK3	22865	broad.mit.edu	37	3	164905952	164905952	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:164905952C>A	ENST00000475390.1	-	2	3110	c.2667G>T	c.(2665-2667)agG>agT	p.R889S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R889S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	889						integral to membrane		p.R889S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGGCTGTGGCCTCTCTCGAT	0.557000										HNSCC(40;0.11)			16	34					6.72482e-11	9.77879e-11	0.003163	1	0
SEPT11	55752	broad.mit.edu	37	4	77917577	77917577	+	Splice_Site	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:77917577G>A	ENST00000264893.6	+	2	228		c.e2-1		SEPT11_ENST00000505788.1_Splice_Site|SEPT11_ENST00000502584.1_Splice_Site|SEPT11_ENST00000541121.1_Splice_Site|SEPT11_ENST00000510515.1_Splice_Site|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11						cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.?(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGAAATTGCAGAATGAAGAGC	0.428000													10	58					0	0	0.008291	0	0
AP4M1	9179	broad.mit.edu	37	7	99699374	99699374	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:99699374G>C	ENST00000429084.1	+	1	195	c.37G>C	c.(37-39)Gac>Cac	p.D13H	AP4M1_ENST00000359593.4_Missense_Mutation_p.D13H|MCM7_ENST00000343023.6_5'UTR|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000421755.1_Missense_Mutation_p.D13H|MCM7_ENST00000303887.5_5'UTR			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	13					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	p.D13H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCAAGGGGGACCCGCTCAT	0.652000													9	124					0	0	0.004482	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558726	61558726	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:61558726C>G	ENST00000457692.1	+	3	381	c.48C>G	c.(46-48)ttC>ttG	p.F16L	SERPINB2_ENST00000299502.4_Missense_Mutation_p.F16L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	16					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.F16L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAATTTATTCAAGCATCTGG	0.483000													4	56					0	0	0.009096	0	0
FBXO43	286151	broad.mit.edu	37	8	101153930	101153930	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:101153930G>T	ENST00000428847.2	-	2	868	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	184					meiosis		zinc ion binding	p.I150I(2)|p.I184I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTCTAAGTTGATAACTTGGC	0.338000													9	69					1.12685e-05	1.37275e-05	0.004482	1	0
PTPRB	5787	broad.mit.edu	37	12	70954555	70954555	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:70954555G>T	ENST00000334414.6	-	17	4372	c.4328C>A	c.(4327-4329)aCg>aAg	p.T1443K	PTPRB_ENST00000550857.1_Missense_Mutation_p.T1135K|PTPRB_ENST00000451516.2_Missense_Mutation_p.T1135K|PTPRB_ENST00000261266.5_Missense_Mutation_p.T1225K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T1442K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1355K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T1135K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1225	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1225K(2)|p.T1443K(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCGCCACTCCGTCAGGTCCTT	0.488000													16	30					4.7546e-09	6.57149e-09	0.004007	1	0
MDN1	23195	broad.mit.edu	37	6	90466040	90466040	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:90466040C>T	ENST00000369393.3	-	20	2887	c.2772G>A	c.(2770-2772)ctG>ctA	p.L924L	MDN1_ENST00000428876.1_Silent_p.L924L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	924					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L924L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAATCCTTTCAGATAATCTA	0.313000													24	121					0	0	0.006320	0	0
TMCC3	57458	broad.mit.edu	37	12	94976067	94976067	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:94976067C>A	ENST00000261226.4	-	2	457	c.326G>T	c.(325-327)gGa>gTa	p.G109V	TMCC3_ENST00000551457.1_Missense_Mutation_p.G78V	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	109						integral to membrane		p.G109V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTTGATACGTCCCGCCTGCTG	0.463000													28	39					2.48779e-11	3.65902e-11	0.005443	1	0
LPHN3	23284	broad.mit.edu	37	4	62910216	62910216	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:62910216G>C	ENST00000512091.1	+	24	4306	c.3559G>C	c.(3559-3561)Gag>Cag	p.E1187Q	LPHN3_ENST00000545650.1_Missense_Mutation_p.E1187Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.E1246Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.E1187Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.E1178Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.E1246Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.E1246Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.E1187Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.E1178Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.E1255Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.E1187Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.E1255Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.E1246Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.E1255Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.E1178Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1165					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.E1187Q(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAGCAGTCAGAGTCTTCCTT	0.378000													48	8					0	0	0.003610	0	0
PRMT5	10419	broad.mit.edu	37	14	23398556	23398556	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:23398556C>A	ENST00000324366.8	-	1	238	c.15G>T	c.(13-15)gcG>gcT	p.A5A	PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000553897.1_Silent_p.A5A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	5					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.A5A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CACCCCCGACCGCCATCGCCG	0.617000													6	8					3.59834e-05	4.32609e-05	0.001168	1	0
CDH8	1006	broad.mit.edu	37	16	61859037	61859037	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:61859037C>T	ENST00000577390.1	-	5	1668	c.714G>A	c.(712-714)gaG>gaA	p.E238E	CDH8_ENST00000584337.1_Silent_p.E238E|CDH8_ENST00000577730.1_Silent_p.E238E|CDH8_ENST00000299345.6_Silent_p.E238E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	238	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E238E(1)		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)		CCAGGTACTCCTCCTTGGCTT	0.448000													10	58					0	0	0.008291	0	0
CKAP2L	150468	broad.mit.edu	37	2	113509933	113509933	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:113509933C>G	ENST00000541405.1	-	5	1541	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	CKAP2L_ENST00000302450.6_Missense_Mutation_p.E505Q			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	505						centrosome		p.E505Q(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCTTTTTCAATGCTCTTC	0.358000													61	167					0	0	0.003610	0	0
STAG3L4	64940	broad.mit.edu	37	7	66770984	66770984	+	RNA	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:66770984A>T	ENST00000416602.2	+	0	276					NR_040586.1		Q8TBR4	STG34_HUMAN										p.M1L(1)		endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTTTGGTAGATGAGTGGCTG	0.383000													41	192					0	0	0.009718	0	0
CSMD3	114788	broad.mit.edu	37	8	114186069	114186069	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:114186069C>A	ENST00000297405.5	-	4	835	c.591G>T	c.(589-591)ggG>ggT	p.G197G	CSMD3_ENST00000343508.3_Silent_p.G157G|CSMD3_ENST00000352409.3_Silent_p.G197G|CSMD3_ENST00000455883.2_Silent_p.G197G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	197	Sushi 1.					integral to membrane|plasma membrane		p.G197G(1)|p.G157G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATCTTGTCCCCGACGTCGA	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	70					2.08457e-15	3.33323e-15	0.002096	1	0
OR5A1	219982	broad.mit.edu	37	11	59211574	59211574	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:59211574G>A	ENST00000302030.2	+	1	958	c.933G>A	c.(931-933)aaG>aaA	p.K311K		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K311K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGAAAGGAAGAAAGTGTTTT	0.438000													13	98					0	0	0.001855	0	0
WDR49	151790	broad.mit.edu	37	3	167254714	167254714	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:167254714T>A	ENST00000308378.3	-	7	1147	c.842A>T	c.(841-843)cAg>cTg	p.Q281L	WDR49_ENST00000476376.1_Missense_Mutation_p.Q106L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.Q345L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	281								p.Q281L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATCATGGTGCTGTATACCTCC	0.383000													18	31					0	0	0.007413	0	0
KLHL7	55975	broad.mit.edu	37	7	23145690	23145690	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:23145690G>C	ENST00000339077.4	+	1	288	c.45G>C	c.(43-45)gaG>gaC	p.E15D	KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_5'UTR|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000322231.7_5'UTR|KLHL7_ENST00000322275.5_Missense_Mutation_p.E15D	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	15						Golgi apparatus|nucleolus|plasma membrane		p.E15D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAAGACCGAGAAGAAACTTG	0.602000													7	26					0	0	0.001984	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739687	34739687	+	RNA	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:34739687C>G	ENST00000562591.1	-	0	235					NR_034019.1																						AGATGTCCCACGGAGATTCTG	0.398000													7	20					0	0	0.001984	0	0
MUC6	4588	broad.mit.edu	37	11	1029498	1029498	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:1029498G>T	ENST00000421673.2	-	9	1183	c.1133C>A	c.(1132-1134)aCc>aAc	p.T378N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	378					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.T378N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACTCACCAGGTTTGGCAGGC	0.692000													6	15					8.12818e-05	9.56608e-05	0.001984	1	0
ABT1	29777	broad.mit.edu	37	6	26598587	26598587	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:26598587C>G	ENST00000274849.1	+	3	564	c.533C>G	c.(532-534)gCc>gGc	p.A178G		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	p.A178G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTTGCTCAAGCCAAGCGTGAG	0.602000													7	84					0	0	0.001984	0	0
TRIM21	6737	broad.mit.edu	37	11	4406815	4406815	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:4406815G>C	ENST00000254436.7	-	7	1240	c.1128C>G	c.(1126-1128)ggC>ggG	p.G376G	TRIM21_ENST00000543625.1_Silent_p.G376G	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	376	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G376G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTGTCCAGAAGCCACTCTTGG	0.532000													4	5					0	0	0.009096	0	0
SPC25	57405	broad.mit.edu	37	2	169728007	169728007	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:169728007C>A	ENST00000282074.2	-	7	750	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	203	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K203N(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						AATTGTTGGTCTTCCTTACAT	0.328000													13	133					7.93312e-07	1.01963e-06	0.002450	1	0
TNR	7143	broad.mit.edu	37	1	175328854	175328854	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:175328854A>G	ENST00000367674.1	-	15	3576	c.2868T>C	c.(2866-2868)ccT>ccC	p.P956P	TNR_ENST00000263525.2_Silent_p.P956P	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	956	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P956P(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGATCCACAGGGTTGTCCA	0.468000													3	46					0	0	0.009096	0	0
CASP5	838	broad.mit.edu	37	11	104872862	104872862	+	Nonstop_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:104872862C>G	ENST00000393139.2	-	4	570	c.401G>C	c.(400-402)tGa>tCa	p.*134S	CASP5_ENST00000393141.2_Missense_Mutation_p.D217H|CASP5_ENST00000444749.2_Missense_Mutation_p.D146H|CASP5_ENST00000418434.1_Missense_Mutation_p.D62H|CASP5_ENST00000531367.1_Missense_Mutation_p.D62H|CASP5_ENST00000526056.1_Missense_Mutation_p.D217H|CASP5_ENST00000260315.3_Missense_Mutation_p.D204H			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	0	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.D217H(1)|p.D188H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGCAGGTGATCAAACTTTGTA	0.473000													14	77					0	0	0.001855	0	0
AXDND1	126859	broad.mit.edu	37	1	179348612	179348612	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:179348612T>C	ENST00000367618.3	+	6	963	c.576T>C	c.(574-576)taT>taC	p.Y192Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.Y192Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	192								p.Y192Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGGAGTGTTATGATGAGTGAG	0.428000													27	59					0	0	0.005443	0	0
TRPV3	162514	broad.mit.edu	37	17	3422138	3422138	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:3422138G>A	ENST00000301365.4	-	15	1948	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	TRPV3_ENST00000576742.1_Missense_Mutation_p.A606V|TRPV3_ENST00000572519.1_Missense_Mutation_p.A606V			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	606						integral to membrane	calcium channel activity	p.A606V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATCAGCGAGGCCAAGGCTAA	0.537000													6	27					0	0	0.001168	0	0
TLN2	83660	broad.mit.edu	37	15	63102154	63102154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:63102154G>T	ENST00000561311.1	+	51	6924	c.6694G>T	c.(6694-6696)Gag>Tag	p.E2232*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.E2232*			Q9Y4G6	TLN2_HUMAN	talin 2	2232					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E2232*(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGTCAGTGACGAGGTGAGAAC	0.547000													4	8					0.00024832	0.000285958	0.009096	1	0
LAMB4	22798	broad.mit.edu	37	7	107756607	107756607	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:107756607C>A	ENST00000388781.3	-	3	118		c.e3-1		LAMB4_ENST00000414450.2_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site|LAMB4_ENST00000388780.3_Splice_Site	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4						cell adhesion	basement membrane		p.?(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGAGCCACCCTTGAACACAA	0.488000													23	77					2.32416e-17	3.81614e-17	0.002299	1	0
TAF1L	138474	broad.mit.edu	37	9	32632340	32632340	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:32632340G>T	ENST00000242310.4	-	1	3327	c.3238C>A	c.(3238-3240)Cgt>Agt	p.R1080S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1080S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTTGTAACGCTCTTGATGC	0.473000													27	96					1.33986e-20	2.27564e-20	0.004656	1	0
OR2F1	26211	broad.mit.edu	37	7	143657207	143657207	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:143657207G>T	ENST00000392899.1	+	1	181	c.144G>T	c.(142-144)ctG>ctT	p.L48L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L48L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGTCCTTCTGATCAGACTGG	0.537000													35	267					1.30998e-17	2.15643e-17	0.005524	1	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857906	149857906	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:149857906G>C	ENST00000369155.2	-	1	326	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	95					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.I95M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGCCGTCTGGATCTCGCGGG	0.642000													8	89					0	0	0.004482	0	0
PLA2R1	22925	broad.mit.edu	37	2	160807914	160807914	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160807914G>C	ENST00000283243.7	-	24	3683	c.3477C>G	c.(3475-3477)tcC>tcG	p.S1159S	PLA2R1_ENST00000392771.1_Silent_p.S1159S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1159	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S1159S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTGAGGAAGGACTGGTGAT	0.438000													13	93					0	0	0.001368	0	0
RTP2	344892	broad.mit.edu	37	3	187419769	187419769	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:187419769G>T	ENST00000358241.1	-	1	576	c.148C>A	c.(148-150)Cag>Aag	p.Q50K		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	50					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.Q50K(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAGGCGTGCTGCTCCAGGTAC	0.617000													26	66					1.66031e-10	2.37398e-10	0.003954	1	0
TTN	7273	broad.mit.edu	37	2	179577502	179577502	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179577502A>T	ENST00000589042.1	-	94	27474	c.27250T>A	c.(27250-27252)Tca>Aca	p.S9084T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7840T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8767T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8767	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S7840T(1)		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)			CCACTTTGTGATGTATCTACA	0.423000													20	61					0	0	0.010504	0	0
ATP1A4	480	broad.mit.edu	37	1	160141452	160141452	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:160141452G>A	ENST00000368081.4	+	12	2230	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	587					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D587N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTCCCCATGGACAACCTTTG	0.483000													41	165					0	0	0.007835	0	0
OR10J1	26476	broad.mit.edu	37	1	159410333	159410333	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:159410333A>G	ENST00000423932.3	+	1	822	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	262					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.Y262C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATTGTCCACTACAGCTGTGCC	0.512000													10	86					0	0	0.000978	0	0
MDGA1	266727	broad.mit.edu	37	6	37631870	37631870	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:37631870G>A	ENST00000434837.2	-	2	1258	c.80C>T	c.(79-81)gCg>gTg	p.A27V	MDGA1_ENST00000505425.1_Missense_Mutation_p.A27V|MDGA1_ENST00000297153.7_Missense_Mutation_p.A27V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	27	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.A27V(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACGATCTGCGCCTGGGCTGG	0.602000													13	129					0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100681897	100681897	+	Silent	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:100681897A>C	ENST00000306151.4	+	3	7264	c.7200A>C	c.(7198-7200)acA>acC	p.T2400T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2400	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2400T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCACTAACAAGTGTGCCTG	0.502000													135	413					0	0	0.003610	0	0
JAK1	3716	broad.mit.edu	37	1	65323402	65323402	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:65323402C>G	ENST00000342505.4	-	10	1643	c.1395G>C	c.(1393-1395)ctG>ctC	p.L465L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	465	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.L465L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCTCCACCTCAGCACGTACA	0.527000			Mis		ALL								3	35					0	0	0.004672	0	0
STARD13	90627	broad.mit.edu	37	13	33704305	33704305	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:33704305C>A	ENST00000336934.5	-	5	625	c.509G>T	c.(508-510)gGg>gTg	p.G170V	STARD13_ENST00000399365.3_Missense_Mutation_p.G52V|STARD13_ENST00000255486.4_Missense_Mutation_p.G162V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	170					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.G170V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCCCGGTGACCCATTTCTGTC	0.562000													7	23					7.48243e-07	9.67516e-07	0.006214	1	0
GPR65	8477	broad.mit.edu	37	14	88477569	88477569	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:88477569G>T	ENST00000267549.3	+	2	936	c.378G>T	c.(376-378)agG>agT	p.R126S	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	126					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.R126I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTCCTAAGGACAAGAAGAT	0.408000													35	182					2.20474e-14	3.45229e-14	0.003755	1	0
OR4D11	219986	broad.mit.edu	37	11	59271968	59271968	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:59271968C>T	ENST00000313253.1	+	1	920	c.920C>T	c.(919-921)cCt>cTt	p.P307L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P307L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACTCGTGCCTTCTGAAAGG	0.522000													3	39					0	0	0.000602	0	0
DHX57	90957	broad.mit.edu	37	2	39088257	39088257	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:39088257T>C	ENST00000295373.6	-	5	1421	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	432							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.Y432C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGGGTCACTATACTTGTGGTG	0.393000													11	108					0	0	0.001368	0	0
TAAR6	319100	broad.mit.edu	37	6	132892374	132892374	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:132892374C>A	ENST00000275198.1	+	1	914	c.914C>A	c.(913-915)gCc>gAc	p.A305D		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	305						plasma membrane	G-protein coupled receptor activity	p.A305D(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATAACTCAGCCATGAATCCT	0.343000													7	105					0.00307968	0.00340302	0.003080	1	0
TNPO2	30000	broad.mit.edu	37	19	12825904	12825904	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:12825904A>T	ENST00000425528.1	-	9	1085	c.728T>A	c.(727-729)gTg>gAg	p.V243E	TNPO2_ENST00000588216.1_Missense_Mutation_p.V243E|TNPO2_ENST00000450764.2_Missense_Mutation_p.V243E|TNPO2_ENST00000441499.1_Missense_Mutation_p.V243E|TNPO2_ENST00000356861.5_Missense_Mutation_p.V243E|TNPO2_ENST00000592287.1_Missense_Mutation_p.V243E|TNPO2_ENST00000589956.1_Intron			O14787	TNPO2_HUMAN	transportin 2	243					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.V243E(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCAATCCGCACTTCCAGAAG	0.627000													6	35					0	0	0.001984	0	0
HFM1	164045	broad.mit.edu	37	1	91859777	91859777	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:91859777A>G	ENST00000370425.3	-	4	465	c.367T>C	c.(367-369)Tat>Cat	p.Y123H	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	123							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Y123H(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGAGAAGCATATGTCAGCTTG	0.348000													10	60					0	0	0.006214	0	0
BAZ2B	29994	broad.mit.edu	37	2	160229657	160229657	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160229657G>A	ENST00000392783.2	-	27	4607	c.4112C>T	c.(4111-4113)tCa>tTa	p.S1371L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.S1335L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S1337L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S1271L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1371L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAACGCAATGAGTGAGACGC	0.413000													20	42					0	0	0.002780	0	0
LAMC3	10319	broad.mit.edu	37	9	133944389	133944389	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:133944389G>T	ENST00000361069.4	+	16	2975	c.2842G>T	c.(2842-2844)Gac>Tac	p.D948Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	948	Laminin EGF-like 10.				cell adhesion	basement membrane|membrane	structural molecule activity	p.D948Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGGCCTGTGACAGGTGCCA	0.662000													39	67					4.06502e-11	5.96513e-11	0.003214	1	0
SPEN	23013	broad.mit.edu	37	1	16255328	16255328	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:16255328G>C	ENST00000375759.3	+	11	2797	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	865					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.E865Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCTGACAAAGAGGGAATAGC	0.463000													10	65					0	0	0.008291	0	0
RBM47	54502	broad.mit.edu	37	4	40439911	40439911	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:40439911C>A	ENST00000319592.4	-	4	1709	c.1000G>T	c.(1000-1002)Ggc>Tgc	p.G334C	RBM47_ENST00000295971.7_Missense_Mutation_p.G334C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.G296C|RBM47_ENST00000381795.6_Missense_Mutation_p.G334C|RBM47_ENST00000381793.2_Missense_Mutation_p.G334C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	334						nucleus	nucleotide binding|RNA binding	p.G334C(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCCGCGCCGCCGCCCCTGGCT	0.672000													5	25					0.00116845	0.00130459	0.001168	1	0
TRPV5	56302	broad.mit.edu	37	7	142612498	142612498	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142612498C>A	ENST00000265310.1	-	10	1613	c.1265G>T	c.(1264-1266)gGg>gTg	p.G422V		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	422					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G422V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAATGGCCCCCCAAGAATCGT	0.498000													12	102					1.02788e-11	1.52578e-11	0.004990	1	0
SLC25A38	54977	broad.mit.edu	37	3	39433348	39433348	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:39433348G>T	ENST00000273158.4	+	5	838	c.461G>T	c.(460-462)gGg>gTg	p.G154V		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	154					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		p.G154V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGCAGAGTGGGAAATATGGC	0.542000													11	49					1.58986e-06	2.02518e-06	0.008291	1	0
OR2T34	127068	broad.mit.edu	37	1	248737461	248737461	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248737461A>T	ENST00000328782.2	-	1	619	c.598T>A	c.(598-600)Tat>Aat	p.Y200N		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y200N(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGCATCTTATAGAGGGAGACG	0.507000													38	393					0	0	0.009718	0	0
MYO1A	4640	broad.mit.edu	37	12	57423272	57423272	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:57423272C>A	ENST00000442789.2	-	27	3111	c.2824G>T	c.(2824-2826)Ggg>Tgg	p.G942W	MYO1A_ENST00000300119.3_Missense_Mutation_p.G942W|MYO1A_ENST00000544473.1_Missense_Mutation_p.G780W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	942					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G942W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ACTGACACCCCAGCCACATTG	0.532000													33	50					3.90053e-15	6.20604e-15	0.002445	1	0
OR51D1	390038	broad.mit.edu	37	11	4661732	4661732	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:4661732G>C	ENST00000357605.2	+	1	788	c.712G>C	c.(712-714)Gtt>Ctt	p.V238L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V238L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTGGGCTGTTTTGGAGCT	0.512000													20	69					0	0	0.001882	0	0
ZNF234	10780	broad.mit.edu	37	19	44660544	44660544	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:44660544C>A	ENST00000426739.2	+	6	633	c.375C>A	c.(373-375)ccC>ccA	p.P125P	ZNF234_ENST00000592437.1_Silent_p.P125P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	125	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P125P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CTCGGTTCCCCAGACAAGGTG	0.413000													24	52					6.44725e-10	9.12709e-10	0.002299	1	0
SCAI	286205	broad.mit.edu	37	9	127818240	127818240	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:127818240C>T	ENST00000336505.5	-	3	203	c.145G>A	c.(145-147)Gat>Aat	p.D49N	SCAI_ENST00000373549.4_Missense_Mutation_p.D72N	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	49	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.D72N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GGGATATCATCTTCAGCACCT	0.363000													9	46					0	0	0.006214	0	0
GBP1	2633	broad.mit.edu	37	1	89521892	89521892	+	Missense_Mutation	SNP	C	C	T	rs139042305		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:89521892C>T	ENST00000370473.4	-	8	1394	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	392					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.R392Q(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AAAGTCATCCCGCTTTTTTTC	0.403000													8	106					0	0	0.004482	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789238	6789238	+	Nonstop_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:6789238C>G	ENST00000338569.2	-	1	1048	c.951G>C	c.(949-951)taG>taC	p.*317Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*317Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGATCCTTCCCTAGAGCGTGG	0.478000													10	19					0	0	0.000978	0	0
PSMD3	5709	broad.mit.edu	37	17	38146160	38146160	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:38146160G>T	ENST00000264639.4	+	5	1029	c.855G>T	c.(853-855)tgG>tgT	p.W285C	PSMD3_ENST00000541736.1_Missense_Mutation_p.W147C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	285					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.W285C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACAATGAGTGGGCCAGGTACC	0.542000													6	32					8.12818e-05	9.56608e-05	0.001984	1	0
TIGD7	91151	broad.mit.edu	37	16	3350604	3350604	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:3350604C>G	ENST00000396862.1	-	2	1839	c.11G>C	c.(10-12)aGa>aCa	p.R4T	TIGD7_ENST00000268674.2_Missense_Mutation_p.R4T	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	4	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R4T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATATTTCCCTCTCTTATTCAT	0.333000													4	41					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9006351	9006351	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:9006351A>T	ENST00000397910.4	-	45	39870	c.39667T>A	c.(39667-39669)Ttg>Atg	p.L13223M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13225	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L375M(1)|p.L13223M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCTGAGCAAGGTCAGTCTG	0.507000													7	104					0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152129396	152129396	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:152129396A>G	ENST00000316073.3	-	3	243	c.179T>C	c.(178-180)cTc>cCc	p.L60P		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	60	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding	p.L60P(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGATCTAAGAGGTTCAAGAT	0.408000													31	62					0	0	0.002445	0	0
LRP2	4036	broad.mit.edu	37	2	170031859	170031859	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:170031859A>T	ENST00000263816.3	-	55	10897	c.10612T>A	c.(10612-10614)Tgc>Agc	p.C3538S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3538	LDL-receptor class A 26.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.C3538S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCTGAGCAGTCTTTCTGT	0.537000													5	47					0	0	0.000602	0	0
EED	8726	broad.mit.edu	37	11	85979592	85979592	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:85979592A>C	ENST00000263360.6	+	9	1641	c.955A>C	c.(955-957)Ata>Cta	p.I319L	EED_ENST00000351625.6_Missense_Mutation_p.I319L|EED_ENST00000327320.4_Missense_Mutation_p.I319L|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	319	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.I319L(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGGCGATTTGATACTTTCTAA	0.403000													9	130					0	0	0.008291	0	0
DTNB	1838	broad.mit.edu	37	2	25851118	25851118	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:25851118C>A	ENST00000406818.3	-	4	533	c.284G>T	c.(283-285)cGc>cTc	p.R95L	DTNB_ENST00000288642.8_Missense_Mutation_p.R95L|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.R38L|DTNB_ENST00000407038.3_Missense_Mutation_p.R95L|DTNB_ENST00000404103.3_Missense_Mutation_p.R95L|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R95L|DTNB_ENST00000405222.1_Missense_Mutation_p.R95L|DTNB_ENST00000407661.3_Missense_Mutation_p.R95L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	95						cytoplasm	calcium ion binding|zinc ion binding	p.R95L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGAAGGCGCTTGTTCAA	0.458000													11	51					2.80697e-09	3.90483e-09	0.000978	1	0
ITGB8	3696	broad.mit.edu	37	7	20431053	20431053	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:20431053G>T	ENST00000222573.3	+	7	1672	c.988G>T	c.(988-990)Gag>Tag	p.E330*	ITGB8_ENST00000537992.1_Nonsense_Mutation_p.E195*	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	330	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.E330*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCAACTTTCAGAGAAATTAAT	0.294000													10	48					1.5842e-08	2.15707e-08	0.001855	1	0
XIST	7503	broad.mit.edu	37	X	73066403	73066403	+	RNA	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:73066403T>A	ENST00000429829.1	-	0	6185					NR_001564.2																						ATTACGCACATAAATGTCCAA	0.468000													27	100					0	0	0.006320	0	0
PDS5A	23244	broad.mit.edu	37	4	39875953	39875953	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:39875953C>A	ENST00000303538.8	-	20	2772	c.2233G>T	c.(2233-2235)Gcc>Tcc	p.A745S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	745					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.A745S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTGAATATGGCGTGTATACAG	0.343000													10	45					0.00829132	0.0090374	0.008291	1	0
BSN	8927	broad.mit.edu	37	3	49695595	49695595	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:49695595C>A	ENST00000296452.4	+	5	8720	c.8606C>A	c.(8605-8607)tCc>tAc	p.S2869Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2869					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.S2869Y(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGAGATTCTCCCTCTACCAG	0.657000													9	16					0.000442599	0.000504257	0.006214	1	0
ASH1L	55870	broad.mit.edu	37	1	155449401	155449401	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:155449401T>A	ENST00000368346.3	-	3	3899	c.3260A>T	c.(3259-3261)cAg>cTg	p.Q1087L	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1087L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1087					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.Q1087L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGAAGAATCTGTCCTAATGC	0.458000													23	44					0	0	0.002299	0	0
LPPR4	9890	broad.mit.edu	37	1	99771394	99771394	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:99771394G>T	ENST00000370185.3	+	7	1617	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	LPPR4_ENST00000457765.1_Missense_Mutation_p.G316C|LPPR4_ENST00000370184.1_Missense_Mutation_p.G216C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		374							phosphatidate phosphatase activity	p.G374C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCATACAGAAGGCATCCTCAA	0.473000													4	86					0.00024832	0.000285958	0.009096	1	0
PSMA6	5687	broad.mit.edu	37	14	35778193	35778193	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:35778193G>C	ENST00000261479.4	+	3	365	c.245G>C	c.(244-246)gGa>gCa	p.G82A	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.G82A|PSMA6_ENST00000555764.1_Missense_Mutation_p.G3A|PSMA6_ENST00000540871.1_Missense_Mutation_p.G63A|PSMA6_ENST00000553809.1_Missense_Mutation_p.G82A	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	82					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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	p.G82A(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GTGATGACCGGAATGACAGGT	0.279000													63	237					0	0	0.003610	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703666	52703666	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:52703666G>A	ENST00000287727.3	+	4	749	c.577G>A	c.(577-579)Gat>Aat	p.D193N	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D193N|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D193N|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D193N	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	193					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.D193N(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CAGACAAACTGATCAATTTAG	0.323000													4	33					0	0	0.000602	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429055	23429055	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:23429055A>T	ENST00000519973.1	+	4	902	c.704A>T	c.(703-705)cAg>cTg	p.Q235L		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	235					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.Q235L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TACAACCCGCAGTCCCACATC	0.627000													8	17					0	0	0.004482	0	0
LAMB3	3914	broad.mit.edu	37	1	209796374	209796374	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:209796374C>T	ENST00000391911.1	-	16	2898	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E837K|LAMB3_ENST00000356082.4_Missense_Mutation_p.E837K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	837	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.E837K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGCAGCTGCTCAGCCACCTGC	0.657000													15	111					0	0	0.003163	0	0
ZUFSP	221302	broad.mit.edu	37	6	116972825	116972825	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:116972825C>A	ENST00000368576.3	-	7	1469	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	409						intracellular	zinc ion binding	p.G409V(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTGAGAGGCCCCCTGAGGATC	0.398000													6	48					1.12685e-05	1.37275e-05	0.004482	1	0
EDEM2	55741	broad.mit.edu	37	20	33703449	33703449	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:33703449G>C	ENST00000374492.3	-	11	1629	c.1524C>G	c.(1522-1524)ctC>ctG	p.L508L	EDEM2_ENST00000542871.1_Silent_p.L232L|EDEM2_ENST00000541621.1_Silent_p.L287L|EDEM2_ENST00000374491.2_Silent_p.L471L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	508					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.L508L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGCTCCGTTTGAGAGAGTAGA	0.547000													16	211					0	0	0.006122	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332435	130332435	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:130332435C>A	ENST00000299164.2	+	4	1302	c.1302C>A	c.(1300-1302)ccC>ccA	p.P434P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	434	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P434P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCTCCCTGCCCGAGGATCTGC	0.622000													4	30					0.00909568	0.0098639	0.009096	1	0
TRIM42	287015	broad.mit.edu	37	3	140401979	140401979	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:140401979C>A	ENST00000286349.3	+	2	1208	c.1017C>A	c.(1015-1017)agC>agA	p.S339R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	339						intracellular	zinc ion binding	p.S339R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACTCTTCAGCGCCATCGCCA	0.532000													13	26					5.50884e-06	6.82097e-06	0.001368	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047885	42047885	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:42047885C>T	ENST00000372584.1	-	3	3598	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E862K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E862K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E862K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	862	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E862K(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCAGGCTCCTCAGTTACTAGG	0.622000													13	101					0	0	0.001855	0	0
ZFHX3	463	broad.mit.edu	37	16	72830811	72830811	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:72830811C>G	ENST00000268489.5	-	9	6442	c.5770G>C	c.(5770-5772)Ggg>Cgg	p.G1924R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G1010R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1924					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G1924R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAACCACCCCCTGGTGCCAAC	0.587000													6	35					0	0	0.001984	0	0
PRDM9	56979	broad.mit.edu	37	5	23522881	23522881	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:23522881G>A	ENST00000296682.3	+	8	951	c.769G>A	c.(769-771)Ggg>Agg	p.G257R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	257	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G257R(1)		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						CCCTCAGGCTGGGCTTGGAGT	0.567000										HNSCC(3;0.000094)			13	40					0	0	0.001855	0	0
MNDA	4332	broad.mit.edu	37	1	158817535	158817535	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:158817535G>T	ENST00000368141.4	+	6	1266	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	335	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K335N(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACACAAGAAGAACACAATTT	0.363000													18	61					7.07596e-05	8.40475e-05	0.006122	1	0
PPARG	5468	broad.mit.edu	37	3	12458631	12458631	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:12458631T>A	ENST00000397026.2	+	8	1565	c.1182T>A	c.(1180-1182)atT>atA	p.I394I	PPARG_ENST00000287820.6_Silent_p.I416I|PPARG_ENST00000397012.2_Silent_p.I388I|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Silent_p.I388I|PPARG_ENST00000309576.6_Silent_p.I388I|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397015.2_Silent_p.I388I			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	416	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.I416I(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAATATTTATTGCTGTCATTA	0.418000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						10	26					0	0	0.006214	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959226	117959226	+	Missense_Mutation	SNP	C	C	A	rs35356061	byFrequency	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:117959226C>A	ENST00000310164.2	+	4	526	c.19C>A	c.(19-21)Cgt>Agt	p.R7S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	7			R -> C (in dbSNP:rs35356061).		regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.I4fs*4(1)|p.R7S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CATCATTGCACGTGTCGGTAA	0.527000													17	55					7.05477e-17	1.15393e-16	0.004990	1	0
NUTM2D	728130	broad.mit.edu	37	10	89118103	89118103	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:89118103G>C	ENST00000412718.1	+	1	627	c.81G>C	c.(79-81)ctG>ctC	p.L27L	NUTM2D_ENST00000381697.2_Silent_p.L27L					NUT family member 2D									p.L27L(1)									GTCACTCTCTGGGTCTTACCC	0.507000													37	310					0	0	0.003755	0	0
MFSD3	113655	broad.mit.edu	37	8	145736023	145736023	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:145736023C>T	ENST00000301327.4	+	3	1133	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	291	Leu-rich.				transmembrane transport	integral to membrane		p.L291L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTTCCGCCTCGGGGGCCTAG	0.617000													11	119					0	0	0.000978	0	0
OR2B3	442184	broad.mit.edu	37	6	29054630	29054630	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:29054630A>G	ENST00000377173.2	-	1	460	c.396T>C	c.(394-396)taT>taC	p.Y132Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.Y132Y(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGATGACTACATAGTGGAGGG	0.488000													25	42					0	0	0.002780	0	0
NSD1	64324	broad.mit.edu	37	5	176637041	176637041	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:176637041C>T	ENST00000439151.2	+	5	1686	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	NSD1_ENST00000347982.4_Silent_p.A278A|NSD1_ENST00000361032.4_Silent_p.A444A|NSD1_ENST00000354179.4_Silent_p.A278A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	547					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.A547A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATACGCAGGCCTCTAATGAAC	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	90					0	0	0.000602	0	0
GEM	2669	broad.mit.edu	37	8	95262773	95262773	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:95262773T>C	ENST00000297596.2	-	5	920	c.656A>G	c.(655-657)gAg>gGg	p.E219G	GEM_ENST00000396194.2_Missense_Mutation_p.E219G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	219					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.E219R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCAGAGGTCTCGATGAACTT	0.562000													9	36					0	0	0.006214	0	0
PCDH20	64881	broad.mit.edu	37	13	61986893	61986893	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:61986893C>A	ENST00000409186.1	-	5	3444	c.1339G>T	c.(1339-1341)Gtt>Ttt	p.V447F	PCDH20_ENST00000409204.4_Missense_Mutation_p.V447F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	420	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V447F(1)|p.V420F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGAGTGTTAACGGGTTCCAGT	0.413000													33	67					1.30897e-18	2.18275e-18	0.009535	1	0
ECT2L	345930	broad.mit.edu	37	6	139167684	139167684	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:139167684T>C	ENST00000423192.1	+	7	934	c.773T>C	c.(772-774)aTt>aCt	p.I258T	ECT2L_ENST00000367682.2_Missense_Mutation_p.I258T|ECT2L_ENST00000541398.1_Missense_Mutation_p.I189T			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	258					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.I258T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AGAAGCAATATTTCTGGAAGC	0.373000			"""N, Splice, Mis"""		ETP ALL								6	58					0	0	0.001984	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714342	70714342	+	RNA	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:70714342G>C	ENST00000530196.1	-	0	176					NR_003951.1																						GCAGAAGAGTGACCCTGATGT	0.532000													16	106					0	0	0.004990	0	0
SCD5	79966	broad.mit.edu	37	4	83719607	83719607	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:83719607C>A	ENST00000319540.4	-	1	403	c.84G>T	c.(82-84)gaG>gaT	p.E28D	SCD5_ENST00000282709.4_Missense_Mutation_p.E28D|SCD5_ENST00000273908.4_Missense_Mutation_p.E28D	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	28					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.E28D(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGCCGCCGCCCTCAGAGCTTT	0.692000													6	12					0.00116845	0.00130459	0.001168	1	0
TTK	7272	broad.mit.edu	37	6	80750341	80750341	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:80750341G>C	ENST00000509894.1	+	21	3237	c.2408G>C	c.(2407-2409)gGa>gCa	p.G803A	TTK_ENST00000230510.3_Missense_Mutation_p.G803A|TTK_ENST00000369798.2_Missense_Mutation_p.G804A			P33981	TTK_HUMAN	TTK protein kinase	804					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G788A(1)|p.G804A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATGGCCAAGGGAACCACTGAA	0.318000													9	90					0	0	0.008291	0	0
DNAH10	196385	broad.mit.edu	37	12	124274537	124274537	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:124274537C>A	ENST00000409039.3	+	11	1526	c.1501C>A	c.(1501-1503)Cgc>Agc	p.R501S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R501S(1)|p.R319S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGACCCCAAGCGCATTGATGA	0.463000													46	113					1.00953e-15	1.62844e-15	0.003214	1	0
PDCD10	11235	broad.mit.edu	37	3	167414840	167414840	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:167414840G>C	ENST00000392750.2	-	5	642	c.225C>G	c.(223-225)aaC>aaG	p.N75K	PDCD10_ENST00000497056.2_Missense_Mutation_p.N75K|PDCD10_ENST00000492396.1_Missense_Mutation_p.N12K|PDCD10_ENST00000473645.2_Missense_Mutation_p.N75K|PDCD10_ENST00000461494.1_Missense_Mutation_p.N75K|PDCD10_ENST00000487947.2_Missense_Mutation_p.N75K|PDCD10_ENST00000471885.1_Missense_Mutation_p.N75K|PDCD10_ENST00000470131.1_Missense_Mutation_p.N75K	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	75					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	p.N75K(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTCCGTGAAGTTAACTTCCA	0.353000													37	45					0	0	0.005524	0	0
PFN1	5216	broad.mit.edu	37	17	4849269	4849269	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:4849269C>G	ENST00000225655.5	-	3	968	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	PFN1_ENST00000574872.1_Missense_Mutation_p.E81Q	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	117					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	p.E117Q(1)		NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGGACACCTTCTTTGCCCATC	0.552000													4	48					0	0	0.000602	0	0
OR2T11	127077	broad.mit.edu	37	1	248789925	248789925	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248789925G>T	ENST00000330803.2	-	1	566	c.505C>A	c.(505-507)Cga>Aga	p.R169R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R169R(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TTGATACTTCGGGAGCCACAG	0.507000													15	78					1.02788e-11	1.52578e-11	0.004990	1	0
C7orf66	154907	broad.mit.edu	37	7	108524580	108524580	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:108524580C>G	ENST00000379007.2	-	1	64	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	4						integral to membrane		p.V4L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GGTGTCATCACAGCCATCATT	0.408000													10	18					0	0	0.000978	0	0
MED20	9477	broad.mit.edu	37	6	41874858	41874858	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:41874858G>A	ENST00000265350.4	-	4	671	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	197					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding	p.F197F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGATCTTGTTGAAGAGTTCCA	0.577000													22	71					0	0	0.003954	0	0
PGM5	5239	broad.mit.edu	37	9	71098889	71098889	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:71098889C>A	ENST00000396396.1	+	9	1633	c.1404C>A	c.(1402-1404)agC>agA	p.S468R		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	468					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.S468R(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTGTGGGGAGCCATGTCTACA	0.502000													24	64					7.92952e-12	1.19221e-11	0.003954	1	0
TTN	7273	broad.mit.edu	37	2	179447086	179447086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179447086C>A	ENST00000589042.1	-	314	66321	c.66097G>T	c.(66097-66099)Gaa>Taa	p.E22033*	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E19465*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E13093*|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E13160*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E20392*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E12968*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20392	Ig-like 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E13093*(1)|p.E13160*(1)|p.E19465*(1)|p.E12968*(1)|p.E19463*(1)		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)			TATTTATTTTCAGCACAAATA	0.448000													7	40					1.12685e-05	1.37275e-05	0.004482	1	0
GEM	2669	broad.mit.edu	37	8	95262774	95262774	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:95262774C>T	ENST00000297596.2	-	5	919	c.655G>A	c.(655-657)Gag>Aag	p.E219K	GEM_ENST00000396194.2_Missense_Mutation_p.E219K	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	219					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.E219R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGAGGTCTCGATGAACTTG	0.562000													9	35					0	0	0.006214	0	0
LRIF1	55791	broad.mit.edu	37	1	111492511	111492511	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:111492511C>G	ENST00000369763.4	-	3	2221	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	LRIF1_ENST00000485275.2_Missense_Mutation_p.E75Q|LRIF1_ENST00000494675.1_Missense_Mutation_p.E75Q|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.E611Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AACTCTGTCTCTTTGTAAGTA	0.373000													6	91					0	0	0.003080	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240700	1240700	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:1240700C>A	ENST00000324642.3	+	7	1023	c.900C>A	c.(898-900)tcC>tcA	p.S300S	SLC6A18_ENST00000296821.4_Silent_p.S295S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	300					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S300S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGATGACCTCCCTGTACGCGT	0.582000													19	33					4.63292e-17	7.59728e-17	0.008871	1	0
ZNF816	125893	broad.mit.edu	37	19	53432347	53432347	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:53432347G>C	ENST00000549216.1	-	2	374	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	ZNF321P_ENST00000391777.3_Missense_Mutation_p.Q171E|ZNF816_ENST00000434371.2_Missense_Mutation_p.Q171E|ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q102E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTCAGGCTGAAATATGTGG	0.403000													21	212					0	0	0.001882	0	0
MDGA2	161357	broad.mit.edu	37	14	47504309	47504309	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:47504309G>T	ENST00000426342.1	-	8	1576	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	MDGA2_ENST00000439988.2_Missense_Mutation_p.S506Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.S277Y|MDGA2_ENST00000399232.2_Missense_Mutation_p.S575Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	506	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.S277Y(2)|p.S575Y(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CATTTCCCTAGATACATTCAC	0.433000													23	119					5.35356e-11	7.81133e-11	0.002780	1	0
TRIM49C	642612	broad.mit.edu	37	11	89768514	89768514	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:89768514C>T	ENST00000448984.1	+	3	464	c.135C>T	c.(133-135)gaC>gaT	p.D45D	TRIM49C_ENST00000432771.1_Silent_p.D45D	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	45						intracellular	zinc ion binding	p.D45D(3)		endometrium(3)|kidney(1)|lung(4)	8						ACTGGCAAGACATCCCATTTC	0.463000													8	36					0	0	0.004990	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74664035	74664035	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:74664035G>A	ENST00000370895.1	+	1	108	c.73G>A	c.(73-75)Gag>Aag	p.E25K	FPGT_ENST00000482102.2_Missense_Mutation_p.E25K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.E25K|FPGT_ENST00000370894.4_Missense_Mutation_p.E25K|FPGT_ENST00000534056.1_Missense_Mutation_p.E25K|FPGT_ENST00000467578.2_Missense_Mutation_p.E25K|FPGT_ENST00000370898.2_Missense_Mutation_p.E25K|FPGT_ENST00000524915.1_Missense_Mutation_p.E25K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E25K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E25K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E25K			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.E25K(1)									GAGGTTTTCCGAGCTAAGAGG	0.597000													4	27					0	0	0.001168	0	0
FLOT2	2319	broad.mit.edu	37	17	27216019	27216019	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:27216019T>G	ENST00000394906.2	-	2	152	c.75A>C	c.(73-75)aaA>aaC	p.K25N	FLOT2_ENST00000585169.1_Missense_Mutation_p.K25N|FLOT2_ENST00000394908.4_Missense_Mutation_p.K25N|FLOT2_ENST00000577789.1_Intron			Q14254	FLOT2_HUMAN	flotillin 2	25					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.K25N(1)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACACGTACTGTTTATAGTCGG	0.587000													4	16					0	0	0.001984	0	0
BAI3	577	broad.mit.edu	37	6	69703696	69703696	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:69703696G>A	ENST00000370598.1	+	11	2592	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	591					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A591T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGAATGCTGGCAGGTGATGG	0.428000													23	222					0	0	0.003954	0	0
ZNF750	79755	broad.mit.edu	37	17	80789947	80789947	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:80789947C>T	ENST00000269394.3	-	2	1217	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	128						intracellular	zinc ion binding	p.Q128Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGCTGGCTTCTGTCCCAGGC	0.637000													6	33					0	0	0.001168	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69332383	69332383	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:69332383G>C	ENST00000305363.4	+	3	235	c.171G>C	c.(169-171)ttG>ttC	p.L57F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	57	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L57F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ATAGCACATTGTCATTTACAA	0.338000													73	229					0	0	0.003610	0	0
MC3R	4159	broad.mit.edu	37	20	54824187	54824187	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:54824187C>G	ENST00000243911.2	+	1	400	c.288C>G	c.(286-288)atC>atG	p.I96M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	133					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.I133M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGAGACCATCATGATCGCCA	0.557000													8	45					0	0	0.003080	0	0
PAH	5053	broad.mit.edu	37	12	103240674	103240674	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:103240674G>T	ENST00000553106.1	-	9	1440	c.969_splice	c.e9+1	p.T323_splice	PAH_ENST00000307000.2_Splice_Site_p.T318_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	323					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.T323K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGGACTTACTGTGGCGAGCTT	0.493000													12	47					7.93312e-07	1.01963e-06	0.002450	1	0
PRMT3	10196	broad.mit.edu	37	11	20486092	20486092	+	Splice_Site	SNP	G	G	T	rs149199835		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:20486092G>T	ENST00000331079.6	+	13	1564	c.1347_splice	c.e13+1	p.T449_splice	PRMT3_ENST00000437750.2_Splice_Site_p.T387_splice	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	449							zinc ion binding	p.T449T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCATGTGCACGGTAAGCTATT	0.368000													19	64					2.39556e-15	3.82575e-15	0.002780	1	0
KIF20B	9585	broad.mit.edu	37	10	91497359	91497359	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:91497359C>G	ENST00000416354.1	+	20	2923	c.2851C>G	c.(2851-2853)Ctt>Gtt	p.L951V	KIF20B_ENST00000371728.3_Missense_Mutation_p.L921V|KIF20B_ENST00000260753.4_Missense_Mutation_p.L881V|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.L921V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	921					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.L881V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGAACTTTCTCTTTCTGAAAA	0.279000													10	61					0	0	0.006214	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513899	95513899	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:95513899C>A	ENST00000432432.2	-	0	712					NR_040113.1													p.?(1)									TGAGAGCTGACCTAAAATAAC	0.353000													23	890					2.28855e-06	2.88087e-06	0.004289	1	0
RP1	6101	broad.mit.edu	37	8	55533539	55533539	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:55533539C>G	ENST00000220676.1	+	2	161	c.13C>G	c.(13-15)Cct>Gct	p.P5A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	5					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P5A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGTGATACCCCTTCTACTGG	0.433000													14	102					0	0	0.006122	0	0
ZNF382	84911	broad.mit.edu	37	19	37117543	37117543	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:37117543C>A	ENST00000435416.1	+	3	2236	c.741C>A	c.(739-741)gcC>gcA	p.A247A	ZNF382_ENST00000423582.1_Silent_p.A199A|ZNF382_ENST00000292928.2_Silent_p.A248A|ZNF382_ENST00000439428.1_Silent_p.A247A			Q96SR6	ZN382_HUMAN	zinc finger protein 382	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A248A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGGAATTGCCTTCATAGAAA	0.388000													14	26					1.02788e-11	1.52578e-11	0.004990	1	0
TRPS1	7227	broad.mit.edu	37	8	116427058	116427058	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:116427058G>T	ENST00000395715.3	-	7	3655	c.3078C>A	c.(3076-3078)agC>agA	p.S1026R	TRPS1_ENST00000519076.1_Missense_Mutation_p.S767R|TRPS1_ENST00000220888.5_Missense_Mutation_p.S1013R|TRPS1_ENST00000520276.1_Missense_Mutation_p.S1017R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1013	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1026R(1)|p.S1013R(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCAGAATGGCTTTTAGTCA	0.448000									Langer-Giedion syndrome				6	137					3.59834e-05	4.32609e-05	0.001168	1	0
RYR2	6262	broad.mit.edu	37	1	237947865	237947865	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:237947865T>G	ENST00000366574.2	+	90	13170	c.12853T>G	c.(12853-12855)Tca>Gca	p.S4285A	RYR2_ENST00000542537.1_Missense_Mutation_p.S4269A|RYR2_ENST00000360064.6_Missense_Mutation_p.S4291A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4285					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S4283A(2)		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)			GGCCTTCTTTTCATCCTACTG	0.473000													6	56					0	0	0.001168	0	0
IKZF1	10320	broad.mit.edu	37	7	50459490	50459490	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:50459490G>T	ENST00000331340.3	+	7	934	c.779G>T	c.(778-780)aGa>aTa	p.R260I	IKZF1_ENST00000440768.2_Missense_Mutation_p.E217D|IKZF1_ENST00000359197.5_Missense_Mutation_p.R218I|IKZF1_ENST00000438033.1_Missense_Mutation_p.R173I|IKZF1_ENST00000343574.5_Missense_Mutation_p.R173I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R218I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	260					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.R260I(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGATCAGAGAGATCTCTCGTG	0.413000			"""D,T"""	BCL6	"""ALL, DLBCL"""								13	58					6.31663e-08	8.40471e-08	0.003163	1	0
ADD3	120	broad.mit.edu	37	10	111885621	111885621	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:111885621G>A	ENST00000277900.8	+	11	1804	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ADD3_ENST00000356080.4_Missense_Mutation_p.G480E|ADD3_ENST00000360162.3_Missense_Mutation_p.G480E	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	480						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.G480E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTTAGTGGTGGAACACCTATC	0.318000													7	71					0	0	0.003080	0	0
GRM1	2911	broad.mit.edu	37	6	146480657	146480657	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:146480657G>A	ENST00000392299.2	+	3	1344	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	GRM1_ENST00000492807.2_Missense_Mutation_p.E292K|GRM1_ENST00000507907.1_Missense_Mutation_p.E292K|GRM1_ENST00000361719.2_Missense_Mutation_p.E292K|GRM1_ENST00000282753.1_Missense_Mutation_p.E292K|GRM1_ENST00000355289.4_Missense_Mutation_p.E292K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	292					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.E292K(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGCTTCTGTGAAGGCATGAC	0.552000													12	42					0	0	0.000978	0	0
UTP6	55813	broad.mit.edu	37	17	30216303	30216303	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:30216303C>A	ENST00000261708.4	-	7	681		c.e7+1		UTP6_ENST00000490218.2_Splice_Site	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)						rRNA processing	nucleolus	binding	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TACACACTCACTTCTTTATAA	0.428000													14	101					1.5739e-10	2.26303e-10	0.004007	1	0
CCDC34	91057	broad.mit.edu	37	11	27371933	27371933	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:27371933T>C	ENST00000317945.6	-	3	591	c.552A>G	c.(550-552)agA>agG	p.R184R	CCDC34_ENST00000328697.6_Silent_p.R184R|CCDC34_ENST00000529615.1_5'UTR	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	184								p.R184R(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CAATTATCTTTCTTTTTTCAC	0.328000													9	30					0	0	0.004482	0	0
RYR2	6262	broad.mit.edu	37	1	237796971	237796971	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:237796971C>A	ENST00000366574.2	+	43	6966	c.6649C>A	c.(6649-6651)Cat>Aat	p.H2217N	RYR2_ENST00000542537.1_Missense_Mutation_p.H2201N|RYR2_ENST00000360064.6_Missense_Mutation_p.H2215N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2217	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H2215N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGTTTGATCATCTCAGTTA	0.333000													31	99					7.01153e-11	1.01842e-10	0.007291	1	0
AASS	10157	broad.mit.edu	37	7	121769442	121769442	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:121769442C>A	ENST00000393376.1	-	2	455	c.360G>T	c.(358-360)atG>atT	p.M120I	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.M120I			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	120	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.M120I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAACAAGCCCATATTGGCCT	0.313000													15	52					1.00905e-13	1.55911e-13	0.008871	1	0
NPY1R	4886	broad.mit.edu	37	4	164246587	164246587	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:164246587C>A	ENST00000296533.2	-	3	1554	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	NPY1R_ENST00000509586.1_Silent_p.R98R	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	341					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R341R(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATCCCGAGACCGGAAATCAC	0.403000													28	76					3.1745e-13	4.87566e-13	0.008361	1	0
OXGR1	27199	broad.mit.edu	37	13	97639078	97639078	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:97639078A>G	ENST00000298440.1	-	4	1179	c.936T>C	c.(934-936)gcT>gcC	p.A312A	OXGR1_ENST00000543457.1_Silent_p.A312A	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	312						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A312A(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTGAGCAGACAGCCTGCTGAA	0.408000													18	76					0	0	0.008871	0	0
FANCD2	2177	broad.mit.edu	37	3	10084739	10084739	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:10084739T>C	ENST00000287647.3	+	12	987	c.894T>C	c.(892-894)atT>atC	p.I298I	FANCD2_ENST00000383807.1_Silent_p.I298I|FANCD2_ENST00000383806.1_Silent_p.I298I|FANCD2_ENST00000419585.1_Silent_p.I298I	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	298	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.I298I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCAGGTAATTTCTGAGCTTC	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	37					0	0	0.001855	0	0
BPNT1	10380	broad.mit.edu	37	1	220242743	220242743	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:220242743G>T	ENST00000469520.2	-	6	814	c.365C>A	c.(364-366)aCc>aAc	p.T122N	BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Missense_Mutation_p.T86N|BPNT1_ENST00000354807.3_Missense_Mutation_p.T122N|BPNT1_ENST00000544404.1_Missense_Mutation_p.T67N|BPNT1_ENST00000322067.7_Missense_Mutation_p.T122N			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	122	Substrate binding.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	p.T122N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATATTCCTTGGTTCCATCCAG	0.308000													7	70					5.18039e-06	6.43913e-06	0.003080	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106455	139106455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:139106455G>T	ENST00000332797.6	+	4	839	c.684G>T	c.(682-684)gaG>gaT	p.E228D		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	228								p.E228D(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGGAGTTAGAGGAACTTCCTG	0.398000													8	104					2.52707e-12	3.82636e-12	0.006214	1	0
LONP1	9361	broad.mit.edu	37	19	5711899	5711899	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:5711899G>C	ENST00000360614.3	-	4	910	c.753C>G	c.(751-753)agC>agG	p.S251R	LONP1_ENST00000585374.1_Missense_Mutation_p.S137R|LONP1_ENST00000590729.1_Missense_Mutation_p.S137R|LONP1_ENST00000593119.1_Missense_Mutation_p.S187R|LONP1_ENST00000540670.2_Missense_Mutation_p.S55R	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	251	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.S251_A252>RS(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGCCTGGCGCTCAGCTCGT	0.667000													31	32					0	0	0.008361	0	0
CACNA1C	775	broad.mit.edu	37	12	2566801	2566801	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:2566801C>A	ENST00000399655.1	+	5	951	c.686C>A	c.(685-687)gCc>gAc	p.A229D	CACNA1C_ENST00000406454.3_Missense_Mutation_p.A229D|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A229D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A229D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A229D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A229D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A229D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A229D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	229					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.A229D(3)|p.A259D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGAAAGGGGCCGGATTTGAT	0.552000													101	140					9.86815e-39	1.73809e-38	0.003610	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723724	140723724	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140723724G>T	ENST00000253812.6	+	1	124	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.G42C(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGATAAAGGTTCCTTCGT	0.617000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	146					3.84483e-29	6.70756e-29	0.003610	1	0
TRAM2	9697	broad.mit.edu	37	6	52400608	52400608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:52400608G>A	ENST00000182527.3	-	2	156	c.157C>T	c.(157-159)Cag>Tag	p.Q53*		NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	53					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.Q53*(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ATGTTATACTGAGGTAAAATA	0.438000													12	45					0	0	0.002450	0	0
TRPS1	7227	broad.mit.edu	37	8	116599370	116599370	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:116599370C>A	ENST00000395715.3	-	5	3135	c.2558G>T	c.(2557-2559)cGa>cTa	p.R853L	TRPS1_ENST00000519076.1_Missense_Mutation_p.R594L|TRPS1_ENST00000519674.1_Missense_Mutation_p.R840L|TRPS1_ENST00000220888.5_Missense_Mutation_p.R840L|TRPS1_ENST00000520276.1_Missense_Mutation_p.R844L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	840					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R853L(1)|p.R840L(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATAAATAGGTCGCGCCAGATG	0.612000									Langer-Giedion syndrome				9	36					2.17888e-05	2.63683e-05	0.006214	1	0
AHNAK2	113146	broad.mit.edu	37	14	105415110	105415110	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:105415110C>A	ENST00000333244.5	-	7	6797	c.6678G>T	c.(6676-6678)gtG>gtT	p.V2226V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2226						nucleus		p.V2226V(1)		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)			CTTCCTCGGGCACAGGGCCCT	0.612000													33	133					8.16721e-17	1.33249e-16	0.002096	1	0
FCRL2	79368	broad.mit.edu	37	1	157737387	157737387	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:157737387T>A	ENST00000469986.1	-	1	177	c.37A>T	c.(37-39)Agg>Tgg	p.R13W	FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000368181.4_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAAAGGGCCTGGCCCCATGG	0.443000													6	77					0	0	0.001984	0	0
RECQL5	9400	broad.mit.edu	37	17	73657728	73657728	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:73657728C>G	ENST00000420326.2	-	5	991	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	RECQL5_ENST00000584999.1_Missense_Mutation_p.E278Q|RECQL5_ENST00000317905.5_Missense_Mutation_p.E278Q|RECQL5_ENST00000423245.2_Missense_Mutation_p.E251Q|RECQL5_ENST00000340830.5_Missense_Mutation_p.E278Q	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	278	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E251Q(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGCTGAGCTCTATGGCCAGC	0.532000								Other identified genes with known or suspected DNA repair function					5	62					0	0	0.001168	0	0
NLRP7	199713	broad.mit.edu	37	19	55449458	55449458	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:55449458G>C	ENST00000446217.1	-	7	2569	c.2167C>G	c.(2167-2169)Ctt>Gtt	p.L723V	NLRP7_ENST00000340844.2_Missense_Mutation_p.L695V|NLRP7_ENST00000328092.5_Missense_Mutation_p.L667V|NLRP7_ENST00000592784.1_Missense_Mutation_p.L695V|NLRP7_ENST00000590030.1_Missense_Mutation_p.L695V|NLRP7_ENST00000588756.1_Missense_Mutation_p.L695V|NLRP7_ENST00000448121.2_Missense_Mutation_p.L667V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	695							ATP binding	p.L667V(1)|p.L695V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGTCACAAAGAATCCGCACA	0.473000													25	315					0	0	0.005443	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088956	113088956	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:113088956G>T	ENST00000409871.1	+	12	2862	c.2461G>T	c.(2461-2463)Ggc>Tgc	p.G821C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G821C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	821							nucleic acid binding|zinc ion binding	p.G821C(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACACAAAAGAGGCGATGATGA	0.428000													24	108					9.57634e-11	1.38469e-10	0.003330	1	0
AK7	122481	broad.mit.edu	37	14	96949376	96949376	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:96949376C>G	ENST00000267584.4	+	16	1838	c.1794C>G	c.(1792-1794)atC>atG	p.I598M		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	598					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.I598M(1)		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)		GACTTGCTATCAAACAGCTCA	0.458000													8	148					0	0	0.000978	0	0
LRP1B	53353	broad.mit.edu	37	2	141299446	141299446	+	Missense_Mutation	SNP	C	C	G	rs111444554		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:141299446C>G	ENST00000389484.3	-	44	8260	c.7289G>C	c.(7288-7290)cGg>cCg	p.R2430P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2430					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2430P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGTTGGACCGCAGTATAGC	0.433000										TSP Lung(27;0.18)			30	70					0	0	0.008361	0	0
LARP1	23367	broad.mit.edu	37	5	154173492	154173492	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:154173492G>T	ENST00000336314.4	+	6	794	c.770G>T	c.(769-771)cGg>cTg	p.R257L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	334							protein binding|RNA binding	p.R257L(1)|p.R334L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGGGGCGCGGGCTTCCTTC	0.697000													14	90					0.000151284	0.000177073	0.001855	1	0
CSMD3	114788	broad.mit.edu	37	8	113529425	113529425	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:113529425C>A	ENST00000297405.5	-	28	4838	c.4594G>T	c.(4594-4596)Ggg>Tgg	p.G1532W	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8.					integral to membrane|plasma membrane		p.G1492W(1)|p.G1532W(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGACCCCTGGGTCACGA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	39					6.40141e-05	7.61057e-05	0.000978	1	0
PCDH10	57575	broad.mit.edu	37	4	134072600	134072600	+	Silent	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:134072600T>G	ENST00000264360.4	+	1	2131	c.1305T>G	c.(1303-1305)gcT>gcG	p.A435A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A435A(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGTAGTGGCTCGGGACCGGG	0.597000													13	141					0	0	0.001368	0	0
KIF4B	285643	broad.mit.edu	37	5	154394127	154394127	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:154394127G>T	ENST00000435029.4	+	1	868	c.708G>T	c.(706-708)ctG>ctT	p.L236L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	236	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.L236L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTCCAAGCTGCATCTTGTAG	0.448000													18	96					2.54575e-18	4.22864e-18	0.010504	1	0
FREM2	341640	broad.mit.edu	37	13	39448686	39448686	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:39448686G>A	ENST00000280481.7	+	18	8460	c.8244G>A	c.(8242-8244)gaG>gaA	p.E2748E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2748					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2748E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAAGACAGAGGCTCAGTTCC	0.473000													4	123					0	0	0.000602	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460485	61460485	+	Missense_Mutation	SNP	G	G	C	rs142252651		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:61460485G>C	ENST00000398019.2	+	4	635	c.310G>C	c.(310-312)Gct>Cct	p.A104P	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A87P|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A104P|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A104P	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	104					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A104P(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TGGGCTTTTTGCTGAAAAAGT	0.368000													14	39					0	0	0.002450	0	0
KNDC1	85442	broad.mit.edu	37	10	135027556	135027556	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:135027556A>T	ENST00000304613.3	+	26	4628	c.4607A>T	c.(4606-4608)cAg>cTg	p.Q1536L	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1538L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1536	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.Q1536L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TATCTGTTACAGCTTCTAAGA	0.517000													8	72					0	0	0.003080	0	0
OSBPL3	26031	broad.mit.edu	37	7	24892206	24892206	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:24892206C>T	ENST00000313367.2	-	11	1526	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	OSBPL3_ENST00000396431.1_Missense_Mutation_p.E328K|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E328K|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E359K|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E328K|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E328K|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E359K	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	359					lipid transport		lipid binding|protein binding	p.E359K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCAGTTTCTCTCTCTCCGCT	0.423000													6	66					0	0	0.001168	0	0
PLEC	5339	broad.mit.edu	37	8	144998619	144998619	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:144998619C>A	ENST00000322810.4	-	31	6058	c.5889G>T	c.(5887-5889)cgG>cgT	p.R1963R	PLEC_ENST00000398774.2_Silent_p.R1794R|PLEC_ENST00000354958.2_Silent_p.R1804R|PLEC_ENST00000356346.3_Silent_p.R1812R|PLEC_ENST00000354589.3_Silent_p.R1826R|PLEC_ENST00000436759.2_Silent_p.R1853R|PLEC_ENST00000527096.1_Silent_p.R1849R|PLEC_ENST00000357649.2_Silent_p.R1830R|PLEC_ENST00000345136.3_Silent_p.R1826R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1963	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R1853R(1)|p.R1963R(1)|p.R1826R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCCGCTGCCGCGCCGCGT	0.756000													3	8					0.004672	0.00512284	0.004672	1	0
EYA1	2138	broad.mit.edu	37	8	72211453	72211453	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:72211453G>T	ENST00000340726.3	-	9	1294	c.655C>A	c.(655-657)Ccc>Acc	p.P219T	EYA1_ENST00000388740.3_Missense_Mutation_p.P186T|EYA1_ENST00000303824.7_Missense_Mutation_p.P213T|EYA1_ENST00000419131.1_Missense_Mutation_p.P214T|EYA1_ENST00000388742.4_Missense_Mutation_p.P219T|EYA1_ENST00000388743.2_Missense_Mutation_p.P218T|EYA1_ENST00000388741.2_Missense_Mutation_p.P185T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	219					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P219T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCAAAACTGGGATAAGACGGA	0.428000													7	73					0.00307968	0.00340302	0.003080	1	0
RCSD1	92241	broad.mit.edu	37	1	167663339	167663339	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:167663339A>T	ENST00000367854.3	+	5	605	c.274A>T	c.(274-276)Aat>Tat	p.N92Y	RCSD1_ENST00000537350.1_Missense_Mutation_p.N62Y	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	92								p.N92Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TTGACAGGCCAATTTAACCTT	0.502000													5	57					0	0	0.001168	0	0
LRRC41	10489	broad.mit.edu	37	1	46746159	46746159	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:46746159C>T	ENST00000343304.6	-	6	2115	c.1830G>A	c.(1828-1830)ctG>ctA	p.L610L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	610								p.L610L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCGAGGCCTTCAGAACGGAGC	0.562000													20	85					0	0	0.002780	0	0
MGAM	8972	broad.mit.edu	37	7	141752684	141752684	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:141752684C>T	ENST00000475668.2	+	26	3113	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1020F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1020					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1020F(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGACATCTCCTTAAAGTCT	0.468000													32	120					0	0	0.002836	0	0
MROH9	80133	broad.mit.edu	37	1	170965683	170965683	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:170965683G>A	ENST00000367759.4	+	14	1527	c.1373G>A	c.(1372-1374)tGt>tAt	p.C458Y	MROH9_ENST00000367758.3_Missense_Mutation_p.C458Y	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.C458Y(2)									CTGCTGAATTGTTCTGGACTG	0.413000													8	126					0	0	0.004482	0	0
SRCAP	10847	broad.mit.edu	37	16	30745918	30745918	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:30745918G>C	ENST00000262518.4	+	31	7096	c.6711G>C	c.(6709-6711)caG>caC	p.Q2237H	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2175H|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q2079H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2237	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.Q2237H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGCAAGCAGACTCATATTC	0.483000													10	84					0	0	0.008291	0	0
CWH43	80157	broad.mit.edu	37	4	49040160	49040160	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:49040160G>T	ENST00000226432.4	+	13	1949	c.1766G>T	c.(1765-1767)aGa>aTa	p.R589I	CWH43_ENST00000513409.1_Missense_Mutation_p.R562I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	589					GPI anchor biosynthetic process	integral to membrane		p.R589I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCTGGCTCCAGAGATTATCTA	0.348000													42	151					2.95478e-19	4.95292e-19	0.008740	1	0
CLVS2	134829	broad.mit.edu	37	6	123377080	123377080	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:123377080G>A	ENST00000275162.4	+	5	2140	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CLVS2_ENST00000368438.1_Missense_Mutation_p.E123K	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	269					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E269K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCTAGACCATGAATATGACGA	0.483000													7	37					0	0	0.003080	0	0
U2SURP	23350	broad.mit.edu	37	3	142757789	142757789	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:142757789G>C	ENST00000397933.2	+	22	2426	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q	U2SURP_ENST00000473835.2_Missense_Mutation_p.E791Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.E790Q			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	791	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding	p.E791Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATCAGAAGAAGAAGAAAATCA	0.318000													5	3					0	0	0.001168	0	0
F13B	2165	broad.mit.edu	37	1	197031079	197031079	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:197031079G>T	ENST00000367412.1	-	3	329	c.286C>A	c.(286-288)Ctg>Atg	p.L96M		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	96	Sushi 2.				blood coagulation	extracellular region		p.L96M(1)		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						CCATTACTCAGGTCAGGCTTA	0.328000													7	28					0.000157383	0.000183376	0.003080	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090295	238090295	+	RNA	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:238090295C>T	ENST00000450451.1	+	0	1801					NR_027247.2																						CCTACGTGGGCGACAAGGCCC	0.607000													4	45					0	0	0.009096	0	0
PGBD1	84547	broad.mit.edu	37	6	28254867	28254867	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:28254867C>T	ENST00000405948.2	+	4	984	c.564C>T	c.(562-564)ccC>ccT	p.P188P	PGBD1_ENST00000259883.3_Silent_p.P188P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	188					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.P188P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGCCTGTTCCCCACGGATCAG	0.517000													6	50					0	0	0.001984	0	0
MTUS2	23281	broad.mit.edu	37	13	29598829	29598829	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:29598829G>C	ENST00000431530.3	+	1	82	c.24G>C	c.(22-24)ggG>ggC	p.G8G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	0						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.G8G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCACCAAAGGGTTGACAATGA	0.448000													14	55					0	0	0.003163	0	0
PSMA6	5687	broad.mit.edu	37	14	35778168	35778168	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:35778168G>C	ENST00000261479.4	+	3	340	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.E74Q|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.E55Q|PSMA6_ENST00000553809.1_Missense_Mutation_p.E74Q	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	74					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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	p.E74Q(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAAGATAACTGAAAACATTGG	0.294000													66	267					0	0	0.003610	0	0
GRIN1	2902	broad.mit.edu	37	9	140058239	140058239	+	Silent	SNP	C	C	T	rs143098819		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:140058239C>T	ENST00000371561.3	+	18	3569	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	GRIN1_ENST00000371559.4_Silent_p.I824I|GRIN1_ENST00000371550.4_Silent_p.I824I|GRIN1_ENST00000371553.3_Silent_p.I845I|GRIN1_ENST00000371555.4_Silent_p.I845I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Silent_p.I845I|GRIN1_ENST00000350902.5_Silent_p.I824I|GRIN1_ENST00000315048.3_Silent_p.I824I|GRIN1_ENST00000371546.4_Silent_p.I845I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	824					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	p.I824I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTGGGGGCATCGTGGCCGGGA	0.617000													4	62					0	0	0.000602	0	0
ARID1B	57492	broad.mit.edu	37	6	157488201	157488201	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:157488201G>C	ENST00000346085.5	+	10	2908	c.2907G>C	c.(2905-2907)caG>caC	p.Q969H	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q956H|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q956H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q898H|ARID1B_ENST00000478761.1_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	956					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q898H(1)|p.Q969H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCATGAACCAGAGTGGACTTA	0.562000													26	238					0	0	0.007291	0	0
WDR16	146845	broad.mit.edu	37	17	9536222	9536222	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:9536222A>C	ENST00000352665.5	+	10	1261	c.1192A>C	c.(1192-1194)Atc>Ctc	p.I398L	WDR16_ENST00000299764.5_Missense_Mutation_p.I408L|WDR16_ENST00000396219.3_Missense_Mutation_p.I330L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	398						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.I398L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CGACGGTAAAATCCGAGCCTT	0.537000													10	75					0	0	0.008291	0	0
FAM171B	165215	broad.mit.edu	37	2	187626765	187626765	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:187626765G>A	ENST00000304698.5	+	8	1899	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	566						integral to membrane	DNA binding	p.G566R(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCAAGAAAGGGACAGTTAGT	0.448000													15	64					0	0	0.003163	0	0
ARMC9	80210	broad.mit.edu	37	2	232104712	232104712	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:232104712G>T	ENST00000349938.4	+	9	1031	c.837G>T	c.(835-837)cgG>cgT	p.R279R	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	279							binding	p.R279R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACCAGATGCGGCAGAGCCTGG	0.562000													3	12					0.00024832	0.000285958	0.009096	1	0
AZGP1P1	646282	broad.mit.edu	37	7	99580970	99580970	+	RNA	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:99580970G>A	ENST00000425474.1	+	0	291					NR_036679.1																						GAAGGCCAGGGAGGACATCTT	0.537000													11	35					0	0	0.002450	0	0
RGS21	431704	broad.mit.edu	37	1	192335236	192335236	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:192335236A>G	ENST00000417209.2	+	5	615	c.441A>G	c.(439-441)aaA>aaG	p.K147K		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	147					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.K147K(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ATCATAAAAAATGGCTCCCTT	0.328000													3	45					0	0	0.009096	0	0
RNF150	57484	broad.mit.edu	37	4	141789444	141789444	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:141789444C>A	ENST00000306799.3	-	7	1815	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y	RNF150_ENST00000515673.1_Missense_Mutation_p.D430Y|RNF150_ENST00000420921.2_Missense_Mutation_p.D289Y|RNF150_ENST00000379512.2_Missense_Mutation_p.D289Y	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	430						integral to membrane	zinc ion binding	p.D430Y(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CAGTCCTGGTCAGTGGAAAGT	0.478000													13	33					0.000151284	0.000177073	0.001855	1	0
C1orf173	127254	broad.mit.edu	37	1	75072350	75072350	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:75072350A>T	ENST00000326665.5	-	10	1642	c.1424T>A	c.(1423-1425)aTg>aAg	p.M475K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M278K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	475	Glu-rich.							p.M475K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTACTTGTCATTTCCTCCAC	0.373000													16	130					0	0	0.004007	0	0
HM13	81502	broad.mit.edu	37	20	30136875	30136875	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:30136875G>T	ENST00000335574.5	+	5	622	c.498G>T	c.(496-498)ctG>ctT	p.L166L	HM13_ENST00000376127.3_Silent_p.L166L|HM13_ENST00000340852.5_Silent_p.L166L|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Silent_p.L166L	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	166					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	p.L166L(4)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGTGTGCCTGGGCCTGAGCA	0.592000													65	199					2.03652e-46	3.60675e-46	0.003610	1	0
MACC1	346389	broad.mit.edu	37	7	20198880	20198880	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:20198880T>G	ENST00000400331.5	-	5	1412	c.1104A>C	c.(1102-1104)aaA>aaC	p.K368N	MACC1_ENST00000589011.1_Missense_Mutation_p.K368N|MACC1_ENST00000332878.4_Missense_Mutation_p.K368N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	368					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.K368N(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGAGGTGGTTTTGTGGATAT	0.408000													11	40					0	0	0.000978	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060921	48060921	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:48060921G>C	ENST00000316364.5	+	18	2348	c.1909G>C	c.(1909-1911)Gat>Cat	p.D637H	SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D618H|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D637H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	637					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.D637H(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGATTTTACTGATCCTTTATC	0.443000													19	72					0	0	0.001882	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341702	55341702	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:55341702C>T	ENST00000391728.4	+	9	1340	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P341L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P419L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P419L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P436L|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.P436L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AATGCTAAGCCCAGATCCAAA	0.522000													101	247					0	0	0.003610	0	0
ZNF287	57336	broad.mit.edu	37	17	16456492	16456492	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:16456492C>G	ENST00000395824.1	-	6	1581	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	ZNF287_ENST00000395825.3_Missense_Mutation_p.E322Q			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E315Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAATGCTTTTCAAAATTATTT	0.318000													4	32					0	0	0.009096	0	0
ENO3	2027	broad.mit.edu	37	17	4858809	4858809	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:4858809C>G	ENST00000323997.6	+	8	907	c.775C>G	c.(775-777)Ctt>Gtt	p.L259V	ENO3_ENST00000519584.1_Missense_Mutation_p.L216V|ENO3_ENST00000518175.1_Missense_Mutation_p.L259V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	259					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.L259V(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GAAGTACGATCTTGACTTCAA	0.537000													55	246					0	0	0.003610	0	0
PELI2	57161	broad.mit.edu	37	14	56757004	56757004	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:56757004A>G	ENST00000267460.4	+	5	812	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	176					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.K176E(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGCAAAGTGGAAAAACCCCGA	0.502000													5	136					0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141768474	141768474	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:141768474C>T	ENST00000475668.2	+	43	5086	c.5032C>T	c.(5032-5034)Cct>Tct	p.P1678S	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1678	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCATATTTCCCTAGAGCCCG	0.418000													4	27					0	0	0.000602	0	0
PCGF3	10336	broad.mit.edu	37	4	728712	728712	+	Translation_Start_Site	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:728712G>A	ENST00000521023.2	+	0	1465				PCGF3_ENST00000505655.2_Intron|PCGF3_ENST00000470161.2_Intron|PCGF3_ENST00000362003.5_Intron			Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	p.?(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CCTGTGCTTTGATGACAGTCT	0.592000													5	23					0	0	0.000602	0	0
TRRAP	8295	broad.mit.edu	37	7	98592252	98592252	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:98592252G>T	ENST00000359863.4	+	66	10257	c.10048G>T	c.(10048-10050)Gtg>Ttg	p.V3350L	TRRAP_ENST00000355540.3_Missense_Mutation_p.V3321L|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3339L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3350					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.V3350L(1)|p.V3321L(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGTTACTCCGTGGCGTTTGA	0.532000													42	215					1.41504e-22	2.42254e-22	0.002852	1	0
PDE7B	27115	broad.mit.edu	37	6	136494944	136494944	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:136494944G>T	ENST00000308191.6	+	9	1024	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	241	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V241L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GAATATGTCTGTGCTGGAGAA	0.428000													6	45					8.12818e-05	9.56608e-05	0.001984	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564580	33564580	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:33564580C>A	ENST00000321505.4	+	1	760	c.580C>A	c.(580-582)Ccc>Acc	p.P194T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P194T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P194T					KIAA1549-like									p.P194T(2)									TGGGGCGGTTCCCGCATCACC	0.562000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	116					2.81731e-10	4.01491e-10	0.002096	1	0
CYP26B1	56603	broad.mit.edu	37	2	72371192	72371192	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:72371192G>C	ENST00000001146.2	-	2	558	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	119					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R119G(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGGGTGCTGCGAGGCCACTCG	0.622000													5	44					0	0	0.000602	0	0
HEPH	9843	broad.mit.edu	37	X	65428069	65428069	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:65428069G>T	ENST00000519389.1	+	15	2885	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	HEPH_ENST00000441993.2_Missense_Mutation_p.W851C|HEPH_ENST00000336279.5_Missense_Mutation_p.W581C|HEPH_ENST00000374727.3_Missense_Mutation_p.W851C|HEPH_ENST00000343002.2_Missense_Mutation_p.W848C|HEPH_ENST00000419594.1_Missense_Mutation_p.W659C			Q9BQS7	HEPH_HUMAN	hephaestin	848	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W848C(1)		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						CTACTGTCTGGCCACTGGCTG	0.468000													16	37					3.32936e-07	4.34441e-07	0.006122	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231325	61231325	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:61231325C>G	ENST00000382768.1	+	5	677	c.677C>G	c.(676-678)aCg>aGg	p.T226R	SERPINB12_ENST00000269491.1_Missense_Mutation_p.T206R			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	206					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T206R(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CATGAAAACACGGTGGATGCA	0.413000													33	55					0	0	0.002096	0	0
CD300A	11314	broad.mit.edu	37	17	72469746	72469746	+	Translation_Start_Site	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:72469746T>A	ENST00000577511.1	+	0	501				CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000360141.3_Missense_Mutation_p.Y38N|CD300A_ENST00000310828.5_Intron			Q9UGN4	CLM8_HUMAN	CD300a molecule						cell adhesion	integral to membrane|plasma membrane	receptor activity	p.Y38N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCAGTGTCCCTATGAGAAGGA	0.532000													19	74					0	0	0.006122	0	0
FRAS1	80144	broad.mit.edu	37	4	79297024	79297024	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:79297024A>G	ENST00000264895.6	+	26	3723	c.3283A>G	c.(3283-3285)Aca>Gca	p.T1095A	FRAS1_ENST00000325942.6_Missense_Mutation_p.T1095A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1094					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T1095A(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCTAATGAAACATGTTCTGG	0.433000													6	46					0	0	0.001984	0	0
ZDBF2	57683	broad.mit.edu	37	2	207146608	207146608	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:207146608G>T	ENST00000374423.3	+	3	421	c.35G>T	c.(34-36)cGt>cTt	p.R12L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	12							nucleic acid binding|zinc ion binding	p.R12L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTTATTGCCGTGTGCAGTAT	0.328000													13	45					1.5739e-10	2.26303e-10	0.004007	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212700	28212700	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:28212700C>A	ENST00000284984.2	-	5	2014	c.1560G>T	c.(1558-1560)gtG>gtT	p.V520V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	520	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.V520V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGGTTTGACACACCAGCACCC	0.542000													15	22					7.93312e-07	1.01963e-06	0.002450	1	0
FAM49A	81553	broad.mit.edu	37	2	16746923	16746923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:16746923C>A	ENST00000381323.3	-	4	403	c.183G>T	c.(181-183)gaG>gaT	p.E61D	FAM49A_ENST00000355549.2_Missense_Mutation_p.E61D|FAM49A_ENST00000406434.1_Missense_Mutation_p.E61D	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	61						intracellular		p.E61D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CATCTCGGATCTCTGGGCCTG	0.507000													14	108					2.23348e-06	2.81432e-06	0.004007	1	0
GJC1	10052	broad.mit.edu	37	17	42882068	42882068	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:42882068C>A	ENST00000426548.1	-	3	1387	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V	GJC1_ENST00000592524.1_Missense_Mutation_p.G373V|GJC1_ENST00000590758.1_Missense_Mutation_p.G373V|GJC1_ENST00000330514.4_Missense_Mutation_p.G373V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	373					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.G373V(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AGCTTTGGACCCCACTTTGGC	0.542000													14	154					2.32078e-09	3.24253e-09	0.003163	1	0
CD109	135228	broad.mit.edu	37	6	74473357	74473357	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:74473357G>T	ENST00000437994.2	+	10	1487	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	CD109_ENST00000287097.5_Missense_Mutation_p.E352D|CD109_ENST00000422508.2_Missense_Mutation_p.E275D	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	352						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.E352D(1)		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						ACATCATTGAGTTTTTTGATT	0.323000													4	66					0.00909568	0.0098639	0.009096	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103468881	103468881	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:103468881G>C	ENST00000602836.1	+	2	496	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	BIVM_ENST00000448849.2_5'UTR|BIVM_ENST00000419638.1_Silent_p.R194R|BIVM_ENST00000257336.1_Silent_p.R194R	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.R194R(1)									TTAAACAGCGGAAAGTATTAG	0.318000													6	94					0	0	0.004482	0	0
PTPRD	5789	broad.mit.edu	37	9	8499732	8499732	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:8499732C>A	ENST00000381196.4	-	22	2780	c.2237G>T	c.(2236-2238)gGa>gTa	p.G746V	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G733V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G746V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G733V|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G746V|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	746	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G746V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACCTGATATCCTCTTATCTG	0.507000										TSP Lung(15;0.13)			31	94					4.40665e-25	7.59481e-25	0.009535	1	0
SAMD9	54809	broad.mit.edu	37	7	92732174	92732174	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:92732174G>T	ENST00000379958.2	-	3	3506	c.3237C>A	c.(3235-3237)aaC>aaA	p.N1079K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1079						cytoplasm		p.N1079K(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGCATTTGGGTTGAACCGAT	0.368000													26	64					1.55469e-16	2.53328e-16	0.003330	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16824580	16824580	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:16824580C>A	ENST00000355661.3	-	15	2106	c.2096G>T	c.(2095-2097)tGt>tTt	p.C699F	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.C699F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.C699F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	699					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.C699F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCTTGTTCACAGAAGATGCT	0.473000													8	69					1.12685e-05	1.37275e-05	0.004482	1	0
SPEN	23013	broad.mit.edu	37	1	16255445	16255445	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:16255445G>C	ENST00000375759.3	+	11	2914	c.2710G>C	c.(2710-2712)Gat>Cat	p.D904H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	904					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.D904H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCAAGCTTGATAATGACAC	0.463000													36	221					0	0	0.006999	0	0
C2orf83	56918	broad.mit.edu	37	2	228476285	228476285	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:228476285G>T	ENST00000264387.4	-	3	364	c.278C>A	c.(277-279)cCt>cAt	p.P93H	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	93						membrane	folic acid binding|reduced folate carrier activity	p.P93H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						ATGGCCCGCAGGGTGAATGAA	0.517000													13	74					1.5842e-08	2.15707e-08	0.001855	1	0
MSC-AS1	100132891	broad.mit.edu	37	8	72964795	72964795	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:72964795A>G	ENST00000524152.1	+	4	418	c.184A>G	c.(184-186)Aga>Gga	p.R62G	RP11-383H13.1_ENST00000537896.1_3'UTR|TRPA1_ENST00000262209.4_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR														p.R62G(1)		lung(1)	1						TCCCAACACCAGAGAACACTA	0.353000													18	60					0	0	0.007413	0	0
TNS3	64759	broad.mit.edu	37	7	47408169	47408169	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:47408169T>A	ENST00000398879.1	-	17	2440	c.2074A>T	c.(2074-2076)Acc>Tcc	p.T692S	TNS3_ENST00000355730.3_Missense_Mutation_p.T452S|TNS3_ENST00000311160.9_Missense_Mutation_p.T692S			Q68CZ2	TENS3_HUMAN	tensin 3	692						focal adhesion	protein binding	p.T692S(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATGTCCAGGGTGGGCGAGCCT	0.627000													44	289					0	0	0.003610	0	0
LATS1	9113	broad.mit.edu	37	6	150001319	150001319	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:150001319T>C	ENST00000543571.1	-	5	2832	c.2285A>G	c.(2284-2286)aAt>aGt	p.N762S	LATS1_ENST00000253339.5_Missense_Mutation_p.N762S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	762	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.N762S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACCCATTCATTGTCAGCTTC	0.373000													9	78					0	0	0.000978	0	0
FMN2	56776	broad.mit.edu	37	1	240371084	240371084	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:240371084C>T	ENST00000319653.9	+	5	3202	c.2972C>T	c.(2971-2973)cCa>cTa	p.P991L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	991	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1134L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCCCCACTTCCCGGA	0.706000													8	8					0	0	0.006214	0	0
TAAR2	9287	broad.mit.edu	37	6	132938716	132938716	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:132938716C>A	ENST00000275191.2	-	1	601	c.494G>T	c.(493-495)gGg>gTg	p.G165V	TAAR2_ENST00000367931.1_Missense_Mutation_p.G210V|TAAR2_ENST00000537809.1_Missense_Mutation_p.G165V	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	210						plasma membrane	G-protein coupled receptor activity	p.G210V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAAGGTGGTCCCCCATAGCTT	0.478000													7	38					1.12685e-05	1.37275e-05	0.004482	1	0
OR8U1	219417	broad.mit.edu	37	11	56143269	56143269	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:56143269C>T	ENST00000302270.1	+	1	170	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.T57I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AGTCTCAACACACCAATGTAC	0.398000													25	125					0	0	0.006320	0	0
PDLIM2	64236	broad.mit.edu	37	8	22439036	22439036	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:22439036C>T	ENST00000265810.4	+	2	353	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PDLIM2_ENST00000397760.4_Silent_p.L80L|PDLIM2_ENST00000409417.1_Silent_p.L80L|PDLIM2_ENST00000397761.2_Silent_p.L80L|PDLIM2_ENST00000339162.7_Silent_p.L80L|PDLIM2_ENST00000308354.7_Silent_p.L330L|PDLIM2_ENST00000409141.1_Silent_p.L80L	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	80	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	p.L80L(1)|p.L330L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCGGCTGCAGCTGGACCGGTA	0.662000													5	7					0	0	0.001168	0	0
C22orf42	150297	broad.mit.edu	37	22	32546309	32546309	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:32546309C>A	ENST00000382097.3	-	7	723	c.651G>T	c.(649-651)gaG>gaT	p.E217D		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	217			E -> K (in dbSNP:rs41344647).					p.E217D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATCTTACCATCTCCGGTGTCA	0.393000													9	80					0.000978159	0.00109979	0.000978	1	0
GTF2H3	2967	broad.mit.edu	37	12	124144730	124144730	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:124144730C>G	ENST00000543341.2	+	13	906	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H3_ENST00000228955.7_Missense_Mutation_p.S251C	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	292					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	p.S292C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTTAAAATTTCTCTGCCTCCA	0.353000								Nucleotide excision repair (NER)					16	57					0	0	0.004990	0	0
AGPAT4	56895	broad.mit.edu	37	6	161653134	161653134	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:161653134G>A	ENST00000320285.4	-	2	324	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	AGPAT4_ENST00000366911.5_Missense_Mutation_p.L38F|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000457520.2_Missense_Mutation_p.L38F|AGPAT4_ENST00000366905.3_Missense_Mutation_p.L38F|AGPAT4_ENST00000366908.5_Missense_Mutation_p.L38F	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	38					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.L38F(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ATGGGCCAGAGGAGGAGAGTG	0.473000													8	52					0	0	0.003080	0	0
KCNA3	3738	broad.mit.edu	37	1	111216069	111216069	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:111216069T>A	ENST00000369769.2	-	1	1586	c.1363A>T	c.(1363-1365)Ata>Tta	p.I455L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	455						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I455L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCCCCTATGGTCACTGGG	0.532000													8	40					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26423427	26423427	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:26423427C>T	ENST00000335473.7	+	43	7737	c.7487C>T	c.(7486-7488)cCg>cTg	p.P2496L	MYO18B_ENST00000536101.1_Missense_Mutation_p.P2496L|MYO18B_ENST00000407587.2_Missense_Mutation_p.P2497L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2496						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.P2497L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGAAGAGCCCGGAGCCCAAG	0.542000													7	19					0	0	0.001984	0	0
UNC5A	90249	broad.mit.edu	37	5	176301472	176301472	+	Missense_Mutation	SNP	C	C	A	rs150952594		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:176301472C>A	ENST00000329542.4	+	8	1557	c.1283C>A	c.(1282-1284)aCc>aAc	p.T428N	UNC5A_ENST00000261961.3_Missense_Mutation_p.T388N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	428					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.T428N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCTCTCCACCCAGAACTAC	0.637000													19	52					4.15321e-07	5.41393e-07	0.009535	1	0
LANCL3	347404	broad.mit.edu	37	X	37514997	37514997	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:37514997G>A	ENST00000378621.3	+	2	932	c.630G>A	c.(628-630)aaG>aaA	p.K210K	LANCL3_ENST00000378619.3_Silent_p.K210K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	210							catalytic activity	p.K210K(2)		lung(4)|pancreas(1)	5						ACTCTGGGAAGCAGTATGCCA	0.448000													8	28					0	0	0.004482	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852868	53852868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:53852868G>T	ENST00000331251.3	+	1	1878	c.401G>T	c.(400-402)cGc>cTc	p.R134L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	134					synaptic transmission	plasma membrane	opioid receptor activity|protein binding	p.R134L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AGCGCCGACCGCTACCTGGTG	0.667000													6	13					2.0095e-06	2.54206e-06	0.001984	1	0
MUT	4594	broad.mit.edu	37	6	49409663	49409663	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:49409663T>A	ENST00000274813.3	-	10	1825	c.1698A>T	c.(1696-1698)acA>acT	p.T566T		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	566			T -> R (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.T566T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGGGCATCTGTGATTTCTC	0.348000													40	85					0	0	0.008740	0	0
CTPS1	1503	broad.mit.edu	37	1	41450572	41450572	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:41450572C>G	ENST00000372621.4	+	3	754	c.246C>G	c.(244-246)ctC>ctG	p.L82L	CTPS1_ENST00000543104.1_Silent_p.L89L|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Silent_p.L82L	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	82					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.L82L(2)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	ACATCCGCCTCACCAAGGACA	0.458000													13	160					0	0	0.004990	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889815	23889815	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:23889815A>T	ENST00000532292.1	-	1	1360	c.1266T>A	c.(1264-1266)aaT>aaA	p.N422K		NM_019066.4	NP_061939.3			MAGE-like 2									p.N422K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCACCAACGCATTTGCCCTCT	0.542000													8	21					0	0	0.003080	0	0
PLBD2	196463	broad.mit.edu	37	12	113822053	113822053	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:113822053G>A	ENST00000280800.3	+	7	1132	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	PLBD2_ENST00000545182.2_Silent_p.K367K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	367					lipid catabolic process	lysosomal lumen	hydrolase activity	p.K367K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACATCTTCAAGAGGTTCAACA	0.617000													6	44					0	0	0.001984	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974434	29974434	+	RNA	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:29974434G>C	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							GGCCCTGGCCGAGACCTGGGC	0.731000													6	33					0	0	0.003080	0	0
PKHD1	5314	broad.mit.edu	37	6	51938335	51938335	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:51938335T>C	ENST00000371117.3	-	7	728	c.453A>G	c.(451-453)aaA>aaG	p.K151K	PKHD1_ENST00000340994.4_Silent_p.K151K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	151	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.K151K(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATGTATTAGTTTTCCTGTTT	0.284000													6	110					0	0	0.003080	0	0
COL5A2	1290	broad.mit.edu	37	2	189944715	189944715	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:189944715G>T	ENST00000374866.3	-	14	1223	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	317					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P317T(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGGAACCAGGTGCTCCAACT	0.358000													22	59					1.1804e-14	1.85739e-14	0.003954	1	0
CDH8	1006	broad.mit.edu	37	16	61761058	61761058	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:61761058G>T	ENST00000577390.1	-	9	2430	c.1476C>A	c.(1474-1476)aaC>aaA	p.N492K	CDH8_ENST00000584337.1_Missense_Mutation_p.N492K|CDH8_ENST00000577730.1_Missense_Mutation_p.N492K|CDH8_ENST00000299345.6_Missense_Mutation_p.N492K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	492	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N492K(1)		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)		ATTCAGGGGCGTTGTCATTGA	0.393000													29	89					7.26314e-15	1.14428e-14	0.007291	1	0
GC	2638	broad.mit.edu	37	4	72618364	72618364	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:72618364C>G	ENST00000273951.8	-	11	1609	c.1266G>C	c.(1264-1266)ctG>ctC	p.L422L	GC_ENST00000513476.1_Silent_p.L422L|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.L441L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	422	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.L441L(1)|p.L422L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTCGCTCTGCCAGTCTGAAAA	0.363000													8	59					0	0	0.001368	0	0
RAP2B	5912	broad.mit.edu	37	3	152880648	152880648	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:152880648C>T	ENST00000323534.2	+	1	620	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	56					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	p.L56L(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGAGATCCTGGATACGGC	0.592000													23	60					0	0	0.008361	0	0
NTNG1	22854	broad.mit.edu	37	1	107867256	107867256	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:107867256C>A	ENST00000370067.1	+	3	1226	c.599C>A	c.(598-600)aCg>aAg	p.T200K	NTNG1_ENST00000370061.3_Missense_Mutation_p.T200K|NTNG1_ENST00000370065.1_Missense_Mutation_p.T200K|NTNG1_ENST00000370066.1_Missense_Mutation_p.T200K|NTNG1_ENST00000370071.2_Missense_Mutation_p.T200K|NTNG1_ENST00000370068.1_Missense_Mutation_p.T200K|NTNG1_ENST00000370072.3_Missense_Mutation_p.T200K|NTNG1_ENST00000370073.2_Missense_Mutation_p.T200K|NTNG1_ENST00000370074.4_Missense_Mutation_p.T200K|NTNG1_ENST00000542803.1_Missense_Mutation_p.T200K|NTNG1_ENST00000370070.2_Missense_Mutation_p.T200K|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	200	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.T200K(3)|p.T200M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCACAGCATACGGTCTTAGAA	0.393000													4	36					0.00909568	0.0098639	0.009096	1	0
IDE	3416	broad.mit.edu	37	10	94264609	94264609	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:94264609C>T	ENST00000265986.6	-	11	1428	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	458					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	p.E458K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCTAAATTCTTCCAGTAAA	0.313000													17	56					0	0	0.010504	0	0
ABCA13	154664	broad.mit.edu	37	7	48428735	48428735	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:48428735G>C	ENST00000435803.1	+	37	11596	c.11572G>C	c.(11572-11574)Gtc>Ctc	p.V3858L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3858	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.V3858L(1)|p.V3803L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAGGCTGTGGTCCAAGACCT	0.557000													4	53					0	0	0.009096	0	0
GOLT1B	51026	broad.mit.edu	37	12	21659867	21659867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:21659867G>T	ENST00000229314.5	+	2	183	c.74G>T	c.(73-75)gGa>gTa	p.G25V	GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.G25V|GOLT1B_ENST00000542038.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	25	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	p.G25V(1)		large_intestine(2)|lung(3)	5						CTGTTCTTTGGAATGATTCTC	0.284000													51	48					2.5401e-28	4.41935e-28	0.003610	1	0
C2orf16	84226	broad.mit.edu	37	2	27805239	27805239	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:27805239C>T	ENST00000408964.2	+	1	5851	c.5800C>T	c.(5800-5802)Cgc>Tgc	p.R1934C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1934	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.R1934C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCGACGCAGTCCCCT	0.557000													9	99					0	0	0.006214	0	0
LPHN2	23266	broad.mit.edu	37	1	82452676	82452676	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:82452676A>T	ENST00000370728.1	+	24	4233	c.3588A>T	c.(3586-3588)gtA>gtT	p.V1196V	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370721.1_Silent_p.V1121V|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370725.1_Silent_p.V1211V|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000394879.1_Silent_p.V1198V|LPHN2_ENST00000370723.1_Silent_p.V1198V|LPHN2_ENST00000370717.2_Silent_p.V1211V|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370713.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1196					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAACAGTTGTATGTAATGCCC	0.418000													5	46					0	0	0.001168	0	0
PIWIL1	9271	broad.mit.edu	37	12	130831590	130831590	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:130831590T>A	ENST00000245255.3	+	6	908	c.636T>A	c.(634-636)taT>taA	p.Y212*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	212					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.Y212*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCAGTTCTATAATATTATTT	0.333000													18	32					0	0	0.007413	0	0
GPR115	221393	broad.mit.edu	37	6	47682166	47682166	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:47682166G>T	ENST00000283303.2	+	6	1443	c.1185G>T	c.(1183-1185)tcG>tcT	p.S395S	GPR115_ENST00000371220.1_Silent_p.S452S|GPR115_ENST00000327753.3_Silent_p.S395S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	395	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S395S(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTCCAAATCGATGACCGACA	0.473000													6	32					0.00307968	0.00340302	0.003080	1	0
RRP1	8568	broad.mit.edu	37	21	45217390	45217390	+	Silent	SNP	C	C	A	rs148457924	by1000genomes	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:45217390C>A	ENST00000497547.1	+	6	627	c.510C>A	c.(508-510)atC>atA	p.I170I	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	170					rRNA processing	nucleolus|preribosome, small subunit precursor		p.I170I(1)		central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GCCACTTCATCGAGATCTTCC	0.612000													15	19					4.7546e-09	6.57149e-09	0.004007	1	0
ZAK	51776	broad.mit.edu	37	2	174131422	174131422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:174131422G>T	ENST00000375213.3	+	20	2425	c.2347G>T	c.(2347-2349)Gcc>Tcc	p.A783S	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.A783S	NM_016653.2	NP_057737.2												p.A783S(1)									GCCATCTCCCGCCAAAACCAA	0.473000													4	11					0.00024832	0.000285958	0.009096	1	0
POLR2B	5431	broad.mit.edu	37	4	57873086	57873086	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:57873086C>G	ENST00000381227.1	+	11	1735	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	POLR2B_ENST00000314595.5_Missense_Mutation_p.S441C|POLR2B_ENST00000431623.2_Missense_Mutation_p.S366C|POLR2B_ENST00000441246.2_Missense_Mutation_p.S434C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	441					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.S441C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGGATCATATCTGATGGCCTA	0.388000													6	219					0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	55568489	55568489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:55568489G>T	ENST00000395445.1	-	36	5715	c.5321C>A	c.(5320-5322)cCa>cAa	p.P1774Q	PCDH15_ENST00000395446.1_Missense_Mutation_p.P970Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.P639Q|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.P708Q	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGCTCCTGGCGACTTCTT	0.483000										HNSCC(58;0.16)			3	14					0.00909568	0.0098639	0.009096	1	0
GPR65	8477	broad.mit.edu	37	14	88477568	88477568	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:88477568G>T	ENST00000267549.3	+	2	935	c.377G>T	c.(376-378)aGg>aTg	p.R126M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	126					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.R126I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTTCCTAAGGACAAGAAGA	0.413000													35	180					3.76114e-14	5.8537e-14	0.004289	1	0
LPHN3	23284	broad.mit.edu	37	4	62598884	62598884	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:62598884G>A	ENST00000512091.1	+	7	1554	c.807G>A	c.(805-807)gaG>gaA	p.E269E	LPHN3_ENST00000545650.1_Silent_p.E269E|LPHN3_ENST00000511324.1_Silent_p.E337E|LPHN3_ENST00000514591.1_Silent_p.E269E|LPHN3_ENST00000514157.1_Silent_p.E269E|LPHN3_ENST00000507625.1_Silent_p.E337E|LPHN3_ENST00000506746.1_Silent_p.E337E|LPHN3_ENST00000504896.1_Silent_p.E269E|LPHN3_ENST00000514996.1_Silent_p.E269E|LPHN3_ENST00000509896.1_Silent_p.E337E|LPHN3_ENST00000508946.1_Silent_p.E269E|LPHN3_ENST00000506720.1_Silent_p.E337E|LPHN3_ENST00000507164.1_Silent_p.E337E|LPHN3_ENST00000508693.1_Silent_p.E337E|LPHN3_ENST00000506700.1_Silent_p.E269E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	269	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.E269E(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGTAGATGAGAATGGGCTAT	0.433000													30	26					0	0	0.008361	0	0
ATP1A4	480	broad.mit.edu	37	1	160141450	160141450	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:160141450T>G	ENST00000368081.4	+	12	2228	c.1757T>G	c.(1756-1758)aTg>aGg	p.M586R	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	586			M -> I (in dbSNP:rs7528360).		ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.M586R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATTTCCCCATGGACAACCTT	0.493000													44	170					0	0	0.002522	0	0
USP13	8975	broad.mit.edu	37	3	179448420	179448420	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:179448420G>T	ENST00000263966.3	+	10	1648	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C	USP13_ENST00000496897.1_Missense_Mutation_p.G328C|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	393					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G393F(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GTTAGGACATGGCCTTCTCTC	0.408000													11	27					1.02788e-11	1.52578e-11	0.004990	1	0
TTN	7273	broad.mit.edu	37	2	179552888	179552888	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179552888C>T	ENST00000589042.1	-	127	32485	c.32261G>A	c.(32260-32262)aGa>aAa	p.R10754K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9510K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10437K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10437	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9510K(1)		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)			TTCTTCTTCTCTATAAACTGA	0.393000													13	180					0	0	0.004990	0	0
PCDH10	57575	broad.mit.edu	37	4	134073887	134073887	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:134073887G>C	ENST00000264360.4	+	1	3418	c.2592G>C	c.(2590-2592)caG>caC	p.Q864H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	864					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q864H(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGACCAGCAGCCTGATATCA	0.557000													7	21					0	0	0.001984	0	0
TRMT6	51605	broad.mit.edu	37	20	5923323	5923323	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:5923323G>C	ENST00000203001.2	-	7	907	c.777C>G	c.(775-777)ctC>ctG	p.L259L	TRMT6_ENST00000453074.2_Silent_p.L89L|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	259					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.L259L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CCACTTTGTTGAGAGGGAATT	0.433000													36	107					0	0	0.005524	0	0
DHX8	1659	broad.mit.edu	37	17	41569554	41569554	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:41569554A>T	ENST00000262415.3	+	5	469	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	DHX8_ENST00000540306.1_Missense_Mutation_p.M133L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	133						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.M133L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTGCAGACCATGTTGGATGA	0.443000													6	42					0	0	0.001168	0	0
GPR64	10149	broad.mit.edu	37	X	19042029	19042029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:19042029C>A	ENST00000354791.3	-	11	701	c.460G>T	c.(460-462)Gag>Tag	p.E154*	GPR64_ENST00000360279.4_Nonsense_Mutation_p.E148*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.E167*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.E140*|GPR64_ENST00000379873.2_Nonsense_Mutation_p.E170*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.E156*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.E140*|GPR64_ENST00000379876.1_Nonsense_Mutation_p.E146*|GPR64_ENST00000379869.3_Nonsense_Mutation_p.E170*|GPR64_ENST00000379878.3_Nonsense_Mutation_p.E154*			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	170					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.E167*(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ATGATTACCTCACTTAGGGTT	0.373000													6	43					8.12818e-05	9.56608e-05	0.001984	1	0
WWP1	11059	broad.mit.edu	37	8	87424098	87424098	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:87424098A>G	ENST00000517970.1	+	9	1363	c.1056A>G	c.(1054-1056)ccA>ccG	p.P352P	WWP1_ENST00000349423.2_Silent_p.P134P|WWP1_ENST00000341922.2_Silent_p.P222P|WWP1_ENST00000265428.4_Silent_p.P352P	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	352	WW 1.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.P352P(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AAACCTTGCCATCAGGGTATG	0.403000													8	40					0	0	0.004482	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34842563	34842563	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:34842563G>T	ENST00000225410.4	+	1	85	c.20G>T	c.(19-21)aGc>aTc	p.S7I	ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.S7I	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	7					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	p.S7I(1)		lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CTCAAATGTAGCACCGTCGTC	0.662000													25	107					3.01185e-09	4.1853e-09	0.003954	1	0
IFNA6	3443	broad.mit.edu	37	9	21350557	21350557	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:21350557A>T	ENST00000380210.1	-	1	820	c.330T>A	c.(328-330)acT>acA	p.T110T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	110					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.T110T(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGTAAAGTTCAGTATAGAGTT	0.512000													65	123					0	0	0.003610	0	0
CXCL9	4283	broad.mit.edu	37	4	76924763	76924763	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:76924763C>G	ENST00000264888.5	-	4	404	c.366G>C	c.(364-366)aaG>aaC	p.K122N	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	122					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.K122N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGTAGTCTTCTTTTGACGAG	0.328000													34	109					0	0	0.002445	0	0
TNXB	7148	broad.mit.edu	37	6	32035474	32035474	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:32035474G>T	ENST00000375244.3	-	18	6709	c.6508C>A	c.(6508-6510)Cgg>Agg	p.R2170R	TNXB_ENST00000375247.2_Silent_p.R2170R			P22105	TENX_HUMAN	tenascin XB	2242	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652000													9	18					0.00621372	0.00679014	0.006214	1	0
PAPPA	5069	broad.mit.edu	37	9	119065173	119065173	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:119065173C>A	ENST00000328252.3	+	10	3460	c.3091C>A	c.(3091-3093)Cat>Aat	p.H1031N	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.H69N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1031					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.H1031N(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTCAGTATCTCATCAAGACCA	0.502000													23	40					7.87624e-14	1.22287e-13	0.002780	1	0
KLHL41	10324	broad.mit.edu	37	2	170367047	170367047	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:170367047A>T	ENST00000284669.1	+	1	836	c.759A>T	c.(757-759)aaA>aaT	p.K253N	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41									p.K253N(1)									AAAAAATCAAAGTTCTAAAAG	0.393000													7	113					0	0	0.003080	0	0
AADACL3	126767	broad.mit.edu	37	1	12779534	12779534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:12779534C>T	ENST00000359318.5	+	2	260	c.55C>T	c.(55-57)Caa>Taa	p.Q19*	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	19							hydrolase activity	p.Q19*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTTCATGCAAGATCTGCC	0.468000													15	215					0	0	0.003163	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956491	73956491	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:73956491G>A	ENST00000358602.4	-	29	6970	c.6854C>T	c.(6853-6855)tCa>tTa	p.S2285L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2172L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S2034L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2285					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.S2285L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATTTTCCTGATAGCATAGA	0.438000													17	150					0	0	0.004990	0	0
CAND1	55832	broad.mit.edu	37	12	67699249	67699249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:67699249G>T	ENST00000545606.1	+	10	2238	c.1801G>T	c.(1801-1803)Gga>Tga	p.G601*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	601					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	p.G601*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTGCAACCTTGGAGACAATTT	0.373000													32	106					3.66082e-28	6.36061e-28	0.005524	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072748	34072748	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:34072748G>A	ENST00000254466.6	-	6	1795	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	GAS2L2_ENST00000587565.1_Silent_p.L574L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	590					cell cycle arrest	cytoplasm|cytoskeleton		p.L590L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAAGGGCAGAGGTGTGTAC	0.592000													21	60					0	0	0.001882	0	0
LRRC27	80313	broad.mit.edu	37	10	134165200	134165200	+	Missense_Mutation	SNP	G	G	A	rs138072740		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:134165200G>A	ENST00000392638.2	+	8	1306	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LRRC27_ENST00000368610.3_Missense_Mutation_p.R277Q|LRRC27_ENST00000432555.2_Missense_Mutation_p.R212Q|LRRC27_ENST00000368615.3_Missense_Mutation_p.R339Q|LRRC27_ENST00000344079.5_Missense_Mutation_p.E371K|LRRC27_ENST00000368613.4_Missense_Mutation_p.R339Q|LRRC27_ENST00000368614.3_Missense_Mutation_p.R339Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R277Q			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0								p.R339Q(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAAGAGAGCCGAGCGGCGGCG	0.597000													6	84					0	0	0.001168	0	0
MROH2B	133558	broad.mit.edu	37	5	41058230	41058230	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:41058230G>T	ENST00000399564.4	-	7	1141	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	MROH2B_ENST00000506092.2_De_novo_Start_InFrame	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L231M(1)									ACCTGGCCCAGGGCGTATCCA	0.522000													14	20					2.62699e-14	4.09351e-14	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179432396	179432396	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179432396C>T	ENST00000589042.1	-	326	78687	c.78463G>A	c.(78463-78465)Gaa>Aaa	p.E26155K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23587K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17215K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17282K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24514K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17090K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24514	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E17090K(1)|p.E17282K(1)|p.E23587K(1)|p.E23585K(1)|p.E17215K(1)		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)			CTTTGATCTTCAGTAAGACCT	0.403000													7	87					0	0	0.001984	0	0
TSPO2	222642	broad.mit.edu	37	6	41011324	41011324	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:41011324C>T	ENST00000373161.1	+	3	447	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	TSPO2_ENST00000470917.1_Silent_p.L68L|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	68					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.L68L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGGAAGGACCTGGGAGGGGG	0.577000													20	114					0	0	0.001882	0	0
TREML2	79865	broad.mit.edu	37	6	41168740	41168740	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:41168740G>T	ENST00000483722.1	-	1	192	c.7C>A	c.(7-9)Cca>Aca	p.P3T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	3					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.P62T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGAAGGCTGGGGCCATGGTT	0.652000													3	11					6.4e-05	7.61057e-05	0.004672	1	0
ADRA1A	148	broad.mit.edu	37	8	26627776	26627776	+	Missense_Mutation	SNP	G	G	T	rs1048102		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:26627776G>T	ENST00000380573.3	-	3	2314	c.1291C>A	c.(1291-1293)Cag>Aag	p.Q431K	ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.Q431K			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	431				Q -> E (in Ref. 1; BAA04960).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.Q431K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCAGACCTGCAAAAAGCTT	0.517000													29	130					1.77063e-15	2.84186e-15	0.005443	1	0
CASR	846	broad.mit.edu	37	3	121980765	121980765	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:121980765G>T	ENST00000498619.1	+	4	1321	c.883G>T	c.(883-885)Gcc>Tcc	p.A295S	CASR_ENST00000490131.1_Missense_Mutation_p.A295S|CASR_ENST00000296154.5_Missense_Mutation_p.A295S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	295					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A295S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GATCTGGCTGGCCAGCGAGGC	0.597000													11	43					7.03913e-09	9.65624e-09	0.001368	1	0
PEX2	5828	broad.mit.edu	37	8	77895970	77895970	+	Missense_Mutation	SNP	C	C	A	rs13251732		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:77895970C>A	ENST00000419564.2	-	4	909	c.445G>T	c.(445-447)Ggt>Tgt	p.G149C	PEX2_ENST00000520103.1_Missense_Mutation_p.G149C|PEX2_ENST00000357039.4_Missense_Mutation_p.G149C|PEX2_ENST00000522527.1_Missense_Mutation_p.G149C	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	149					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	p.G149C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ATCAGCCCACCTAATTTCAAA	0.363000													15	62					4.7546e-09	6.57149e-09	0.004007	1	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476125	7476125	+	RNA	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:7476125G>C	ENST00000579777.1	+	0	2036					NR_037926.1																						ATAAGTTGTCGATAGGCGGGC	0.592000													4	148					0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	153077664	153077664	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:153077664G>T	ENST00000285900.5	+	9	1538	c.1195G>T	c.(1195-1197)Ggc>Tgc	p.G399C	GRIA1_ENST00000448073.4_Missense_Mutation_p.G409C|GRIA1_ENST00000518783.1_Missense_Mutation_p.G409C|GRIA1_ENST00000340592.5_Missense_Mutation_p.G399C|GRIA1_ENST00000518142.1_Missense_Mutation_p.G319C|GRIA1_ENST00000521843.2_Missense_Mutation_p.G330C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	399					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.G399C(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAAGCTGGGGGCGATAATTC	0.478000													8	34					0.000442599	0.000504257	0.006214	1	0
ANKRD44	91526	broad.mit.edu	37	2	197878319	197878319	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:197878319C>G	ENST00000328737.2	-	18	1841	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	ANKRD44_ENST00000337207.5_Missense_Mutation_p.E589Q|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E606Q|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E589Q			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	614							protein binding	p.E429Q(1)|p.E429K(1)|p.E589Q(1)|p.E589K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCACACATTCTGTGTGTCCT	0.502000													18	168					0	0	0.006122	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532571	84532571	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:84532571G>T	ENST00000527857.1	+	0	2593					NR_026851.1																						CTGGGACTGTGCATAGTTCAT	0.443000													20	42					2.4624e-09	3.43292e-09	0.008871	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106680949	106680949	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:106680949T>A	ENST00000526355.1	-	5	1930	c.1462A>T	c.(1462-1464)Aag>Tag	p.K488*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.K509*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.K488*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	488					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.K488*(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACTGTCTTCTTTTTCTCTTCT	0.443000													8	70					0	0	0.006214	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135848566	135848566	+	Splice_Site	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:135848566A>G	ENST00000264158.8	+	4	193		c.e4-1		RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000539493.1_Splice_Site|RAB3GAP1_ENST00000487003.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGGTACATATAGGGTATATTT	0.333000													7	93					0	0	0.001984	0	0
OR5T3	390154	broad.mit.edu	37	11	56019822	56019822	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:56019822T>C	ENST00000303059.3	+	1	147	c.147T>C	c.(145-147)gaT>gaC	p.D49D		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D50Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCTTCACAGATGATTTTGAGC	0.368000													12	50					0	0	0.001368	0	0
ADAM22	53616	broad.mit.edu	37	7	87746060	87746060	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:87746060G>T	ENST00000398204.4	+	7	861	c.537_splice	c.e7-1	p.E180_splice	ADAM22_ENST00000398201.4_Splice_Site_p.E180_splice|ADAM22_ENST00000439864.1_Splice_Site_p.E180_splice|ADAM22_ENST00000315984.7_Splice_Site_p.E180_splice|ADAM22_ENST00000265727.7_Splice_Site_p.E180_splice|ADAM22_ENST00000398209.3_Splice_Site_p.E180_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	180					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.E180*(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTCATTTCAGGAGGATTTCCA	0.383000													4	25					0.00024832	0.000285958	0.009096	1	0
CCDC167	154467	broad.mit.edu	37	6	37451048	37451048	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:37451048G>C	ENST00000373408.3	-	4	266	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	70						integral to membrane		p.L70V(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						TCTTGCCGAAGAAACTTCAGT	0.542000													3	67					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179576812	179576812	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179576812T>C	ENST00000589042.1	-	96	27969	c.27745A>G	c.(27745-27747)Acg>Gcg	p.T9249A	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8005A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T8932A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8932	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T8005A(1)		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)			TTGTAAGTCGTAGTGGGTCTC	0.403000													3	99					0	0	0.004672	0	0
MEP1A	4224	broad.mit.edu	37	6	46800982	46800982	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:46800982G>T	ENST00000230588.4	+	11	1325	c.1316G>T	c.(1315-1317)cGg>cTg	p.R439L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	439	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R439Q(1)|p.R439L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGACAGTCCGGAATTTCTCC	0.512000													24	64					3.7963e-18	6.29775e-18	0.003330	1	0
CR2	1380	broad.mit.edu	37	1	207640143	207640143	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:207640143G>T	ENST00000367057.3	+	2	520	c.331G>T	c.(331-333)Ggt>Tgt	p.G111C	CR2_ENST00000367059.3_Missense_Mutation_p.G111C|CR2_ENST00000458541.2_Missense_Mutation_p.G111C|CR2_ENST00000367058.3_Missense_Mutation_p.G111C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	111	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G111C(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTACAGACATGGTGATTCTGT	0.428000													14	40					4.14922e-12	6.25305e-12	0.004007	1	0
MID2	11043	broad.mit.edu	37	X	107084007	107084007	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:107084007G>A	ENST00000262843.6	+	2	660	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MID2_ENST00000443968.2_Missense_Mutation_p.E38K	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	38						centrosome|microtubule	ligase activity|zinc ion binding	p.E18K(1)|p.E38K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGAGTTGTTTGAAGACCCCCT	0.498000													31	175					0	0	0.004289	0	0
GON4L	54856	broad.mit.edu	37	1	155727002	155727002	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:155727002T>C	ENST00000437809.1	-	26	5488	c.5366A>G	c.(5365-5367)gAg>gGg	p.E1789G	GON4L_ENST00000368331.1_Missense_Mutation_p.E1789G|GON4L_ENST00000271883.5_Missense_Mutation_p.E1789G			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1789					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAATTGATCTCTTCAAAGTC	0.532000													7	64					0	0	0.003080	0	0
FABP6	2172	broad.mit.edu	37	5	159640816	159640816	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:159640816A>T	ENST00000393980.4	+	3	271	c.125A>T	c.(124-126)cAt>cTt	p.H42L	FABP6_ENST00000393982.1_Missense_Mutation_p.H42L	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.H42L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGACACATAAAGGAAAG	0.463000													12	152					0	0	0.003163	0	0
GPKOW	27238	broad.mit.edu	37	X	48976099	48976099	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:48976099C>A	ENST00000156109.5	-	4	603	c.525G>T	c.(523-525)atG>atT	p.M175I		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	175	G-patch.					nucleus	nucleic acid binding	p.M175I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GTTTCCAGCCCATGCCCCGCA	0.602000													7	36					0.00307968	0.00340302	0.003080	1	0
TANC1	85461	broad.mit.edu	37	2	160005759	160005759	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160005759C>A	ENST00000263635.6	+	6	708	c.471C>A	c.(469-471)acC>acA	p.T157T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	157						cell junction|postsynaptic density|postsynaptic membrane	binding	p.T157T(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CACACATAACCATTGAAGACA	0.473000													35	89					6.97489e-18	1.15261e-17	0.004878	1	0
POU6F2	11281	broad.mit.edu	37	7	39504268	39504268	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:39504268C>G	ENST00000518318.2	+	10	1993	c.1951C>G	c.(1951-1953)Ctg>Gtg	p.L651V	POU6F2_ENST00000403058.1_Missense_Mutation_p.L687V|POU6F2_ENST00000559001.1_Missense_Mutation_p.L632V			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	687					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	p.L687V(1)		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						AACAGACTCTCTGGAAGAAAA	0.458000													3	9					0	0	0.009096	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718605	142718605	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:142718605C>T	ENST00000381779.4	-	2	545	c.320G>A	c.(319-321)aGt>aAt	p.S107N	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S107N|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S107N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	107						integral to membrane		p.S107N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTAATGCACTGAGCCCAAG	0.428000													11	85					0	0	0.000978	0	0
ABCC8	6833	broad.mit.edu	37	11	17434996	17434996	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:17434996A>T	ENST00000302539.4	-	20	2548	c.2423T>A	c.(2422-2424)cTg>cAg	p.L808Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.L807Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	807	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.L807Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTCTGGCTGCAGAGAGCAGGC	0.587000													32	109					0	0	0.004289	0	0
DNAH11	8701	broad.mit.edu	37	7	21789412	21789412	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:21789412G>T	ENST00000328843.6	+	54	8842	c.8811G>T	c.(8809-8811)ctG>ctT	p.L2937L	DNAH11_ENST00000409508.3_Silent_p.L2930L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2937	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2937L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGACTTGCTGGCATCAGGTG	0.428000									Kartagener syndrome				9	60					4.68919e-08	6.27833e-08	0.008291	1	0
PDZRN4	29951	broad.mit.edu	37	12	41957357	41957357	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:41957357G>C	ENST00000298919.7	+	8	981	c.593G>C	c.(592-594)gGg>gCg	p.G198A	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G200A|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G458A			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	458							ubiquitin-protein ligase activity|zinc ion binding	p.G458V(2)|p.G200V(2)|p.G200A(1)|p.G458A(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TAGATAAATGGGGAAGATGTC	0.413000													6	47					0	0	0.001168	0	0
CHD6	84181	broad.mit.edu	37	20	40116400	40116400	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:40116400C>T	ENST00000373233.3	-	14	2083	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	636	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E636K(1)|p.E635_E636>D*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGAAGAGCTCCTCCACAGAG	0.433000													8	83					0	0	0.004482	0	0
ADNP2	22850	broad.mit.edu	37	18	77894245	77894245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:77894245G>T	ENST00000262198.4	+	4	1404	c.949G>T	c.(949-951)Gga>Tga	p.G317*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	317	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G317*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGTGCCCCTGGAAGCCTCAC	0.642000													17	56					1.45105e-14	2.27491e-14	0.006122	1	0
ABLIM3	22885	broad.mit.edu	37	5	148563037	148563037	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:148563037C>A	ENST00000506113.1	+	2	518	c.36C>A	c.(34-36)taC>taA	p.Y12*	ABLIM3_ENST00000508983.1_Nonsense_Mutation_p.Y12*|ABLIM3_ENST00000504238.1_Nonsense_Mutation_p.Y12*|ABLIM3_ENST00000326685.7_Nonsense_Mutation_p.Y12*|ABLIM3_ENST00000309868.7_Nonsense_Mutation_p.Y12*|ABLIM3_ENST00000356541.3_Nonsense_Mutation_p.Y12*|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	12					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.Y12*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCCTTACAATCCACGGG	0.468000													6	58					0.00198382	0.00220158	0.001984	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147016	26147016	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:26147016G>A	ENST00000331351.5	+	2	1210	c.818G>A	c.(817-819)cGc>cAc	p.R273H	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	273					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.R273H(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GCTCCCAAGCGCATTCACTCC	0.493000													4	76					0	0	0.000602	0	0
CNTN1	1272	broad.mit.edu	37	12	41410554	41410554	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:41410554A>T	ENST00000551295.2	+	19	2372	c.2255A>T	c.(2254-2256)gAa>gTa	p.E752V	CNTN1_ENST00000347616.1_Missense_Mutation_p.E752V|CNTN1_ENST00000348761.2_Missense_Mutation_p.E741V|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	752	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.E752V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTGATGGAGAAGAATGGAAA	0.363000													13	36					0	0	0.003163	0	0
ERO1L	30001	broad.mit.edu	37	14	53119806	53119806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:53119806C>A	ENST00000395686.3	-	12	1259	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	346					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	p.E346*(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TGAAGTATTTCCAGAAGTAAC	0.284000													8	25					1.12685e-05	1.37275e-05	0.004482	1	0
ZP3	7784	broad.mit.edu	37	7	76054473	76054473	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:76054473G>T	ENST00000336517.4	+	2	385	c.39G>T	c.(37-39)aaG>aaT	p.K13N	ZP3_ENST00000394857.3_Missense_Mutation_p.K64N	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	64					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	p.K64N(1)|p.K13N(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GCACCGGGAAGCTCATCAGGG	0.587000													8	32					5.18039e-06	6.43913e-06	0.003080	1	0
LGALS4	3960	broad.mit.edu	37	19	39294168	39294168	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:39294168G>C	ENST00000307751.4	-	7	1041	c.564C>G	c.(562-564)ttC>ttG	p.F188L		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	188					cell adhesion	cytosol|plasma membrane	sugar binding	p.F188L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ATACCGGGTTGAAGGTTGGGG	0.532000													8	42					0	0	0.004482	0	0
MYH3	4621	broad.mit.edu	37	17	10533025	10533025	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:10533025G>C	ENST00000583535.1	-	40	5772	c.5685C>G	c.(5683-5685)acC>acG	p.T1895T	MYH3_ENST00000226209.7_Silent_p.T1895T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1895					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.T1895T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCGGAATTTGGTGAGATGAG	0.527000													4	71					0	0	0.000602	0	0
EPHB6	2051	broad.mit.edu	37	7	142564021	142564021	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142564021G>T	ENST00000392957.2	+	9	2196	c.1409G>T	c.(1408-1410)aGc>aTc	p.S470I	EPHB6_ENST00000411471.2_Missense_Mutation_p.S193I|EPHB6_ENST00000442129.1_Missense_Mutation_p.S470I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	470	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.S455I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTGAGCTCAGCCCTGACCCT	0.587000													10	22					7.48243e-07	9.67516e-07	0.006214	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105367344	105367344	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:105367344G>A	ENST00000297581.2	+	3	1318	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	423					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.K423K(1)									TGCATGCAAAGCTGCTTAAAA	0.463000													10	82					0	0	0.008291	0	0
FSHR	2492	broad.mit.edu	37	2	49295382	49295382	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:49295382G>A	ENST00000406846.2	-	2	319	c.200C>T	c.(199-201)tCa>tTa	p.S67L	FSHR_ENST00000304421.4_Missense_Mutation_p.S67L|FSHR_ENST00000346173.3_Missense_Mutation_p.S67L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	67					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.S67L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CCCAAATCCTGAAAATGCACC	0.428000									Gonadal Dysgenesis, 46 XX				11	120					0	0	0.001855	0	0
GNGT1	2792	broad.mit.edu	37	7	93536082	93536082	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:93536082C>G	ENST00000455502.1	+	3	278	c.24C>G	c.(22-24)gaC>gaG	p.D8E	GNGT1_ENST00000430875.1_Missense_Mutation_p.D8E|GNGT1_ENST00000429473.1_Missense_Mutation_p.D8E|GNGT1_ENST00000428834.1_Missense_Mutation_p.D8E|GNGT1_ENST00000248572.5_Missense_Mutation_p.D8E			P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	8					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.D8E(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATATTGAGGACCTGACAGAAA	0.388000													3	69					0	0	0.000602	0	0
ODAM	54959	broad.mit.edu	37	4	71063865	71063865	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:71063865C>T	ENST00000396094.2	+	4	414	c.366C>T	c.(364-366)ggC>ggT	p.G122G		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	122	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.G122G(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAACCAGGCCCCAGTCACG	0.483000													15	88					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179454814	179454814	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179454814C>G	ENST00000589042.1	-	304	61862	c.61638G>C	c.(61636-61638)aaG>aaC	p.K20546N	TTN_ENST00000342992.6_Missense_Mutation_p.K17978N|TTN_ENST00000359218.5_Missense_Mutation_p.K11606N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K11673N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K18905N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K11481N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18905	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K17976N(1)|p.K11606N(1)|p.K11673N(1)|p.K17978N(1)|p.K11481N(1)		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)			AGATGATATACTTGCCATGAT	0.453000													7	115					0	0	0.004482	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261823	21261823	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:21261823T>C	ENST00000311620.5	+	2	1009	c.936T>C	c.(934-936)gaT>gaC	p.D312D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	312								p.D312D(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CAGAGGCTGATGAGGGTGCAG	0.493000													4	32					0	0	0.009096	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470538	74470538	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:74470538C>T	ENST00000591885.1	-	12	1931	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	RHBDF2_ENST00000389760.4_Missense_Mutation_p.E461K|RHBDF2_ENST00000313080.4_Missense_Mutation_p.E490K			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	490					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.E490K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGGTCTCGCTCGCGCAGCACC	0.652000													8	47					0	0	0.004482	0	0
CDH1	999	broad.mit.edu	37	16	68835796	68835796	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:68835796G>T	ENST00000261769.5	+	3	578	c.387_splice	c.e3+1	p.Q129_splice	CDH1_ENST00000422392.2_Splice_Site_p.Q129_splice|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	129					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.Q129H(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CGCCCCATCAGGTATGTTGGC	0.507000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				17	21					1.02788e-11	1.52578e-11	0.004990	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188385	140188385	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140188385G>A	ENST00000530339.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R538H|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R538H|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.R538H(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCTCGCGATGCCGGC	0.652000													18	61					0	0	0.008361	0	0
CNTN3	5067	broad.mit.edu	37	3	74315791	74315791	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:74315791T>A	ENST00000263665.6	-	21	2854	c.2827A>T	c.(2827-2829)Agg>Tgg	p.R943W	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	943	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R943L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGCTAGTCCTATAGAAAACC	0.323000													14	45					0	0	0.001855	0	0
ELTD1	64123	broad.mit.edu	37	1	79383619	79383619	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:79383619C>A	ENST00000370742.3	-	11	1641	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.K526_G527>N*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAAAAATCCCTTGTTGTAGA	0.418000													9	131					7.48243e-07	9.67516e-07	0.006214	1	0
NRXN1	9378	broad.mit.edu	37	2	50280529	50280529	+	Silent	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:50280529A>T	ENST00000404971.1	-	22	5467	c.4128T>A	c.(4126-4128)acT>acA	p.T1376T	NRXN1_ENST00000402717.3_Silent_p.T1328T|NRXN1_ENST00000406859.3_Silent_p.T1306T|NRXN1_ENST00000406316.2_Silent_p.T1306T|NRXN1_ENST00000405472.3_Silent_p.T1328T|NRXN1_ENST00000401710.1_Silent_p.T324T|NRXN1_ENST00000342183.5_Silent_p.T271T|NRXN1_ENST00000401669.2_Silent_p.T1336T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1306					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.T1306T(1)|p.T1377T(1)|p.T1376T(1)|p.T271T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTTGACTCAGTTGTCATAG	0.498000													12	117					0	0	0.001368	0	0
FTMT	94033	broad.mit.edu	37	5	121187928	121187928	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:121187928G>T	ENST00000321339.1	+	1	279	c.270G>T	c.(268-270)gcG>gcT	p.A90A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	90	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.A90A(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGCTCTATGCGTCCTACGTGT	0.617000													8	25					3.09899e-07	4.05203e-07	0.004482	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107446571	107446571	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:107446571C>A	ENST00000409382.3	-	5	1879	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E423D|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E423D	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	423					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E423D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTTAGTGTTCTCCTGGATAA	0.388000													38	89					5.04308e-16	8.1759e-16	0.006230	1	0
ZAN	7455	broad.mit.edu	37	7	100350635	100350635	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:100350635C>A	ENST00000542585.1	+	0	3055				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P969P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGAAAAACCCACCATCCCCA	0.522000													34	102					5.8336e-16	9.44558e-16	0.003271	1	0
DGKK	139189	broad.mit.edu	37	X	50135414	50135414	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:50135414G>T	ENST00000376025.2	-	0	1688							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R339R(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAACCAGAATGCGAAAGCGAG	0.448000													11	44					1.08611e-07	1.43179e-07	0.000978	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933485	209933485	+	Missense_Mutation	SNP	G	G	C	rs138600826		TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:209933485G>C	ENST00000367024.1	+	3	617	c.101G>C	c.(100-102)cGc>cCc	p.R34P	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R34P|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R34P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R34P|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R34P			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	34						integral to membrane	protein binding	p.R34P(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAAGCCGCCGCTGCCGTCCC	0.627000													6	16					0	0	0.001984	0	0
REV1	51455	broad.mit.edu	37	2	100020963	100020963	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:100020963G>C	ENST00000258428.3	-	18	3217	c.2989C>G	c.(2989-2991)Caa>Gaa	p.Q997E	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.Q996E	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	997					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.Q997E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCGATTCTTGAGGTTCTGGT	0.403000								Direct reversal of damage					12	150					0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135455156	135455156	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:135455156G>T	ENST00000394143.1	+	15	8000	c.7709G>T	c.(7708-7710)cGg>cTg	p.R2570L	GPR112_ENST00000287534.4_Missense_Mutation_p.R2368L|GPR112_ENST00000412101.1_Missense_Mutation_p.R2365L|GPR112_ENST00000370652.1_Missense_Mutation_p.R2570L|GPR112_ENST00000394141.1_Missense_Mutation_p.R2365L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532000													143	261					5.17333e-80	9.20021e-80	0.003610	1	0
CAPN11	11131	broad.mit.edu	37	6	44148729	44148729	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:44148729A>C	ENST00000398776.1	+	18	1902	c.1864A>C	c.(1864-1866)Atg>Ctg	p.M622L	CAPN11_ENST00000542245.1_Missense_Mutation_p.M622L	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	622	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.M622L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATCAACCTCATGGATGTATC	0.582000													76	161					0	0	0.003610	0	0
PTDSS1	9791	broad.mit.edu	37	8	97307407	97307407	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:97307407G>T	ENST00000517309.1	+	5	849	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.G29C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	175					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.G175C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACATTTCTGGGGCTGGGCCAT	0.463000													24	59					5.49717e-05	6.55982e-05	0.003330	1	0
TMEM116	89894	broad.mit.edu	37	12	112371823	112371823	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:112371823G>C	ENST00000354825.3	-	11	979	c.324C>G	c.(322-324)atC>atG	p.I108M	TMEM116_ENST00000552374.2_Missense_Mutation_p.I200M|TMEM116_ENST00000550831.3_Missense_Mutation_p.I108M|TMEM116_ENST00000355445.3_Missense_Mutation_p.I165M|TMEM116_ENST00000437003.2_Missense_Mutation_p.I108M|TMEM116_ENST00000549537.2_Missense_Mutation_p.I14M			Q8NCL8	TM116_HUMAN	transmembrane protein 116	108						integral to membrane		p.I108M(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TCTGGGCTCGGATAAGTAAGA	0.423000													10	17					0	0	0.001368	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85626523	85626523	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:85626523G>T	ENST00000393217.2	+	26	5066	c.5005G>T	c.(5005-5007)Gtt>Ttt	p.V1669F	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1669								p.V1669F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGTGGAAGAGTTCAGCTTGT	0.318000													13	36					7.93312e-07	1.01963e-06	0.002450	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87125988	87125988	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:87125988C>G	ENST00000285393.3	+	2	323	c.181C>G	c.(181-183)Cac>Gac	p.H61D	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	61					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.H61D(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTTGGCTAATCACACAAATCC	0.368000													19	172					0	0	0.002299	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238277	132238277	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:132238277C>A	ENST00000321253.6	+	4	1118	c.1011C>A	c.(1009-1011)acC>acA	p.T337T		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	337					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T337T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCATCAAGACCAAGCGCACCA	0.552000													26	78					1.66031e-10	2.37398e-10	0.003954	1	0
ZNF521	25925	broad.mit.edu	37	18	22804792	22804792	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:22804792G>A	ENST00000361524.3	-	4	3238	c.3090C>T	c.(3088-3090)acC>acT	p.T1030T	ZNF521_ENST00000538137.2_Silent_p.T1030T|ZNF521_ENST00000584787.1_Silent_p.T810T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1030					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.T1030T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCAAGGTGGAGGTCACTGTCT	0.527000			T	PAX5	ALL								14	30					0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170031841	170031841	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:170031841C>G	ENST00000263816.3	-	55	10915	c.10630G>C	c.(10630-10632)Gaa>Caa	p.E3544Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3544	LDL-receptor class A 26.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.E3544Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGCCAGTTCATCAGAGCCA	0.527000													4	49					0	0	0.009096	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181085	57181085	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:57181085G>C	ENST00000504228.1	+	6	1522	c.1417G>C	c.(1417-1419)Ggg>Cgg	p.G473R	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G473R|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G466R			Q6ZU35	K1211_HUMAN	KIAA1211	473	Glu-rich.							p.G473R(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGATTTCCAGGGGGCCGATCG	0.632000													4	49					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179472295	179472295	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:179472295G>T	ENST00000589042.1	-	277	53344	c.53120C>A	c.(53119-53121)aCc>aAc	p.T17707N	TTN_ENST00000342992.6_Missense_Mutation_p.T15139N|TTN_ENST00000359218.5_Missense_Mutation_p.T8767N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8834N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T16066N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8642N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16066	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T15139N(2)|p.T8834N(1)|p.T8642N(1)|p.T8767N(1)		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)			TTCTTCTTTGGTCCATACTTT	0.448000													149	437					5.15219e-87	9.17533e-87	0.003610	1	0
PRR14L	253143	broad.mit.edu	37	22	32097683	32097683	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:32097683T>C	ENST00000327423.6	-	7	6255	c.6066A>G	c.(6064-6066)ccA>ccG	p.P2022P	PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Silent_p.P2022P	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2022								p.P2022P(2)|p.P175P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GATTAGGATCTGGCCTAGGAA	0.438000													8	46					0	0	0.003080	0	0
SLC17A3	10786	broad.mit.edu	37	6	25851096	25851096	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:25851096C>A	ENST00000397060.4	-	7	831	c.722G>T	c.(721-723)gGc>gTc	p.G241V	SLC17A3_ENST00000360657.3_Missense_Mutation_p.G163V|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G163V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	163					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.G241V(1)|p.G163V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCAGACACAGCCAACACCTCC	0.403000													10	57					9.31168e-06	1.14853e-05	0.001855	1	0
FOCAD	54914	broad.mit.edu	37	9	20764905	20764905	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:20764905C>G	ENST00000380249.1	+	9	896	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	FOCAD_ENST00000338382.6_Missense_Mutation_p.L178V	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	178						integral to membrane	binding	p.L178V(1)									GGCACCATTTCTGTGGTATCT	0.383000													25	76					0	0	0.005443	0	0
CLVS2	134829	broad.mit.edu	37	6	123319104	123319104	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:123319104G>T	ENST00000275162.4	+	2	1517	c.182G>T	c.(181-183)aGg>aTg	p.R61M	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	61					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R61M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTGCGGGCTAGGAAGTTTCAT	0.547000													5	82					0.00116845	0.00130459	0.001168	1	0
GAK	2580	broad.mit.edu	37	4	860764	860764	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:860764C>G	ENST00000314167.4	-	21	2962	c.2852G>C	c.(2851-2853)aGa>aCa	p.R951T	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.R872T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	951					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.R951T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCCCTCCTCTTGGGGTGCT	0.657000													10	63					0	0	0.001368	0	0
TLL1	7092	broad.mit.edu	37	4	166795203	166795203	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:166795203T>C	ENST00000061240.2	+	1	794	c.147T>C	c.(145-147)gaT>gaC	p.D49D	TLL1_ENST00000507499.1_Silent_p.D49D|TLL1_ENST00000513213.1_Silent_p.D49D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	49					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D49D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACTATAGATTACAAGGACC	0.572000													59	150					0	0	0.003610	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572612	127572612	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:127572612A>G	ENST00000373580.3	+	8	1880	c.1880A>G	c.(1879-1881)gAc>gGc	p.D627G	OLFML2A_ENST00000288815.5_Missense_Mutation_p.D413G	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	627	Olfactomedin-like.							p.D627G(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACCCAGATCGACTACAACCCC	0.647000													11	26					0	0	0.008291	0	0
RADIL	55698	broad.mit.edu	37	7	4839263	4839263	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:4839263C>A	ENST00000399583.3	-	14	3307	c.3120G>T	c.(3118-3120)ctG>ctT	p.L1040L	RADIL_ENST00000538469.1_Silent_p.L800L|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1040	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.L1040L(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGGTACCTCAGGTAGCCAA	0.711000													3	11					0.004672	0.00512284	0.004672	1	0
USO1	8615	broad.mit.edu	37	4	76731607	76731607	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:76731607G>T	ENST00000538159.1	+	23	2525	c.2525G>T	c.(2524-2526)gGa>gTa	p.G842V	USO1_ENST00000514213.2_Missense_Mutation_p.G818V			O60763	USO1_HUMAN	USO1 vesicle transport factor	833					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.G761V(1)|p.G842V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGGTACAAGGAGAGACCGAG	0.343000													8	32					5.18039e-06	6.43913e-06	0.003080	1	0
OR2B6	26212	broad.mit.edu	37	6	27925657	27925657	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:27925657C>A	ENST00000244623.1	+	1	639	c.639C>A	c.(637-639)ctC>ctA	p.L213L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCTGACACTCATCCTTATAT	0.428000													38	118					1.465e-08	2.00113e-08	0.008740	1	0
NBPF20	100288142	broad.mit.edu	37	1	148346594	148346594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:148346594G>A	ENST00000369202.1	-	2	360	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	NBPF20_ENST00000414710.2_Nonsense_Mutation_p.Q55*					neuroblastoma breakpoint family, member 20									p.Q55*(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TATTTCTTCTGCTGGTTGGCC	0.438000													17	205					0	0	0.003330	0	0
NEFH	4744	broad.mit.edu	37	22	29885826	29885826	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:29885826C>A	ENST00000310624.6	+	4	2230	c.2197C>A	c.(2197-2199)Ccc>Acc	p.P733T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	739	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.P733T(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCAAAGACCCCCGAGAAGGC	0.547000													16	96					1.3612e-06	1.73909e-06	0.003163	1	0
ABCA8	10351	broad.mit.edu	37	17	66920869	66920869	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:66920869G>A	ENST00000269080.2	-	10	1552	c.1415C>T	c.(1414-1416)cCa>cTa	p.P472L	ABCA8_ENST00000586539.1_Missense_Mutation_p.P472L|ABCA8_ENST00000430352.2_Missense_Mutation_p.P472L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	472						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P472L(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGAATTCTGGAGGCGCTTG	0.468000													14	71					0	0	0.004990	0	0
GNAS	2778	broad.mit.edu	37	20	57429020	57429020	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:57429020G>A	ENST00000371100.4	+	1	1252	c.700G>A	c.(700-702)Ggg>Agg	p.G234R	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G234R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.L170L|GNAS_ENST00000371099.2_Missense_Mutation_p.G234R|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR	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	p.G234R(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGAAGGATTTGGGGACGACAG	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	15					0	0	0.009096	0	0
KANSL1	284058	broad.mit.edu	37	17	44116525	44116525	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:44116525C>A	ENST00000262419.6	-	9	2730	c.2260G>T	c.(2260-2262)Gtg>Ttg	p.V754L	KANSL1_ENST00000432791.1_Missense_Mutation_p.V754L|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.V754L|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.V754L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	754						MLL1 complex	protein binding	p.V754W(1)									ACGGCCCCCACATCGTCTAAG	0.567000													18	41					3.99206e-14	6.20557e-14	0.007413	1	0
DSTYK	25778	broad.mit.edu	37	1	205116708	205116708	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:205116708C>T	ENST00000367162.3	-	13	2798	c.2768G>A	c.(2767-2769)aGa>aAa	p.R923K	DSTYK_ENST00000367161.3_Missense_Mutation_p.R878K|DSTYK_ENST00000367160.4_Missense_Mutation_p.R582K	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	923						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R384K(1)|p.R923K(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATCTAGTCCTCTGTTTGGCTG	0.488000													58	123					0	0	0.003610	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744068	70744068	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:70744068T>C	ENST00000260126.3	-	2	1547	c.841A>G	c.(841-843)Att>Gtt	p.I281V	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.I281V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I281V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	281						integral to membrane|plasma membrane	transporter activity	p.I281V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGGGTATAAATAGGTGTGGAG	0.468000													16	66					0	0	0.004007	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885966	88885966	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:88885966C>A	ENST00000319675.3	-	1	330	c.234G>T	c.(232-234)ctG>ctT	p.L78L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	78								p.L78L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGTATTCGCCAGTATGCGGT	0.547000													32	91					3.90053e-15	6.20604e-15	0.002445	1	0
KCNK16	83795	broad.mit.edu	37	6	39286895	39286895	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:39286895G>T	ENST00000425054.2	-	2	227	c.228C>A	c.(226-228)gcC>gcA	p.A76A	KCNK16_ENST00000507712.1_Silent_p.A11A|KCNK16_ENST00000373229.5_Silent_p.A76A|KCNK16_ENST00000437525.2_Silent_p.A76A|KCNK16_ENST00000373227.4_Silent_p.A76A	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	76						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A76A(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTTTCACCCAGGCTTCCATGA	0.537000													17	61					8.28177e-16	1.33927e-15	0.007413	1	0
KANSL1	284058	broad.mit.edu	37	17	44116524	44116524	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:44116524A>C	ENST00000262419.6	-	9	2731	c.2261T>G	c.(2260-2262)gTg>gGg	p.V754G	KANSL1_ENST00000432791.1_Missense_Mutation_p.V754G|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.V754G|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.V754G	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	754						MLL1 complex	protein binding	p.V754W(1)									CACGGCCCCCACATCGTCTAA	0.567000													18	43					0	0	0.008871	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685683	125685683	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:125685683C>A	ENST00000371126.1	-	1	1151	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	303								p.L303L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAAGTAGGGCAGCCTGATGG	0.597000													7	55					5.68852e-11	8.29065e-11	0.004482	1	0
KIAA0355	9710	broad.mit.edu	37	19	34791804	34791804	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:34791804G>T	ENST00000299505.6	+	2	1299	c.426G>T	c.(424-426)atG>atT	p.M142I		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	142								p.M142I(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGCCAAGATGCTAATGGAAC	0.483000													16	35					0.00400662	0.00442348	0.004007	1	0
MDC1	9656	broad.mit.edu	37	6	30672204	30672204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:30672204G>A	ENST00000376406.3	-	10	5403	c.4756C>T	c.(4756-4758)Cag>Tag	p.Q1586*	MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q1322*|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1586	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.Q1586*(1)		breast(2)|kidney(1)|ovary(1)	4						GTGACAAGCTGGTTTCTGGAG	0.577000								Other conserved DNA damage response genes					112	256					0	0	0.003610	0	0
OR5D14	219436	broad.mit.edu	37	11	55563504	55563504	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55563504C>A	ENST00000335605.1	+	1	473	c.473C>A	c.(472-474)cCc>cAc	p.P158H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P158H(1)		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)				ATGTTTGGCCCCTTGGTACTC	0.493000													52	88					1.50631e-41	2.66405e-41	0.003610	1	0
PTPN13	5783	broad.mit.edu	37	4	87680174	87680174	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:87680174A>G	ENST00000436978.1	+	23	3981	c.3501A>G	c.(3499-3501)gcA>gcG	p.A1167A	PTPN13_ENST00000427191.2_Silent_p.A1148A|PTPN13_ENST00000316707.6_Silent_p.A976A|PTPN13_ENST00000411767.2_Silent_p.A1167A|PTPN13_ENST00000511467.1_Silent_p.A1167A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1167	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.A1167A(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGCAAAATGCACCTGAAGATG	0.388000													11	58					0	0	0.008291	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947251	57947251	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:57947251G>A	ENST00000335397.3	+	3	651	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCCATCGACTGCTACCTCTTG	0.557000													13	57					0	0	0.001368	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165051	87165051	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:87165051A>T	ENST00000285393.3	+	8	1040	c.898A>T	c.(898-900)Atg>Ttg	p.M300L	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	300					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.M300L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCAGGTACAAATGAATGTGCT	0.368000													24	82					0	0	0.006320	0	0
TLX1	3195	broad.mit.edu	37	10	102896655	102896655	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:102896655G>T	ENST00000370196.6	+	3	3020	c.978G>T	c.(976-978)gcG>gcT	p.A326A	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A326A(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTCGGTGGCGTCGGCCTGCG	0.647000			T	"""TRB@, TRD@"""	T-ALL								9	28					0.000442599	0.000504257	0.006214	1	0
MAN2A1	4124	broad.mit.edu	37	5	109051935	109051935	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:109051935T>C	ENST00000261483.4	+	3	1557	c.505T>C	c.(505-507)Ttt>Ctt	p.F169L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	169					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.F169L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTTCAAGTCTTTGTGGTGCC	0.383000													22	76					0	0	0.002780	0	0
KLF11	8462	broad.mit.edu	37	2	10188397	10188397	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:10188397G>T	ENST00000535335.1	+	3	1098	c.882G>T	c.(880-882)gtG>gtT	p.V294V	KLF11_ENST00000540845.1_Silent_p.V294V|KLF11_ENST00000305883.1_Silent_p.V311V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	311					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V311V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGTTGTCTGTGGGGACTGTGA	0.582000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	51					1.06961e-07	1.41295e-07	0.003080	1	0
IL18R1	8809	broad.mit.edu	37	2	103013338	103013338	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:103013338G>T	ENST00000409599.1	+	12	1974	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	IL18R1_ENST00000233957.1_Nonsense_Mutation_p.E540*			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	540					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.E540*(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTCTTTCCGAGTCTTAATC	0.413000													11	30					0.00829132	0.0090374	0.008291	1	0
PCDH15	65217	broad.mit.edu	37	10	55582436	55582436	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:55582436T>G	ENST00000361849.3	-	34	5450	c.5056A>C	c.(5056-5058)Aaa>Caa	p.K1686Q	PCDH15_ENST00000437009.1_Missense_Mutation_p.K1615Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1644Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1684Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1681Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1661Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1684					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.K1684Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTTCTGATTTGAGTTCCACA	0.428000										HNSCC(58;0.16)			9	36					0	0	0.004482	0	0
AK7	122481	broad.mit.edu	37	14	96949366	96949366	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:96949366G>A	ENST00000267584.4	+	16	1828	c.1784G>A	c.(1783-1785)aGa>aAa	p.R595K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	595					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.R595K(1)		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)		GCTCAGAATAGACTTGCTATC	0.423000													22	125					0	0	0.001882	0	0
MBD5	55777	broad.mit.edu	37	2	149247082	149247082	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:149247082C>T	ENST00000407073.1	+	12	4179	c.3182C>T	c.(3181-3183)cCg>cTg	p.P1061L	MBD5_ENST00000404807.1_Missense_Mutation_p.P1294L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1061						chromosome|nucleus	chromatin binding|DNA binding	p.P1061L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGTTGCAACCGAGGATTGAC	0.483000													5	55					0	0	0.001168	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744160	31744160	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:31744160G>T	ENST00000399889.2	-	1	397	c.372C>A	c.(370-372)tcC>tcA	p.S124S		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	124						intermediate filament		p.S124*(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGACACCACTGGACCCACAGC	0.582000													10	29					3.86212e-05	4.61728e-05	0.008291	1	0
SSH2	85464	broad.mit.edu	37	17	28003892	28003892	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:28003892A>T	ENST00000269033.3	-	7	630	c.479T>A	c.(478-480)gTa>gAa	p.V160E	SSH2_ENST00000540801.1_Missense_Mutation_p.V187E|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	160					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V160E(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCCGTCGATACACTGAACCC	0.358000													8	68					0	0	0.004482	0	0
SORCS3	22986	broad.mit.edu	37	10	107012559	107012559	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:107012559C>A	ENST00000369701.3	+	23	3359	c.3132C>A	c.(3130-3132)atC>atA	p.I1044I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1044						integral to membrane	neuropeptide receptor activity	p.I1044I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACCAGATCCTCATTGCCG	0.527000													20	64					2.54575e-18	4.22864e-18	0.010504	1	0
KCNH5	27133	broad.mit.edu	37	14	63416960	63416960	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:63416960C>G	ENST00000322893.7	-	7	1528	c.1260G>C	c.(1258-1260)gtG>gtC	p.V420V	KCNH5_ENST00000420622.2_Silent_p.V420V|KCNH5_ENST00000394968.1_Silent_p.V362V|KCNH5_ENST00000394964.2_Silent_p.V362V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	420					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.V362V(1)|p.V420V(1)		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)		AGAGAGAGGACACGTACAATG	0.473000													32	43					0	0	0.002096	0	0
ABCC12	94160	broad.mit.edu	37	16	48141258	48141258	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:48141258C>A	ENST00000311303.3	-	18	2795	c.2450G>T	c.(2449-2451)gGt>gTt	p.G817V	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G814V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	817	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G817V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAACCAGAGACCCAGCCACCA	0.552000													18	85					1.96895e-08	2.66399e-08	0.002780	1	0
NBPF14	25832	broad.mit.edu	37	1	148016460	148016460	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:148016460C>A	ENST00000369219.1	-	7	798	c.781_splice	c.e7-1	p.R261_splice				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	261	NBPF 3.					cytoplasm		p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCACCGATGTCCTGCAAATAA	0.458000													17	272					8.10497e-08	1.07508e-07	0.010504	1	0
WDR49	151790	broad.mit.edu	37	3	167245694	167245694	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:167245694C>A	ENST00000308378.3	-	11	1767	c.1462G>T	c.(1462-1464)Ggt>Tgt	p.G488C	WDR49_ENST00000476376.1_Missense_Mutation_p.G313C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	488								p.G488C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGTAACTGACCACCTGGCTCA	0.443000													17	40					2.4624e-09	3.43292e-09	0.008871	1	0
RFWD2	64326	broad.mit.edu	37	1	175956158	175956158	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:175956158C>T	ENST00000367669.3	-	18	2568	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	RFWD2_ENST00000308769.8_Missense_Mutation_p.S661N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	685					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S685N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTCGAGAACACTTTTGACTGT	0.343000													22	67					0	0	0.003954	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448280	25448280	+	RNA	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:25448280G>T	ENST00000424208.1	+	0	2126				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGAAGCTCAGGCCCTTCCTT	0.647000													15	38					3.27435e-08	4.39777e-08	0.002450	1	0
BAALC	79870	broad.mit.edu	37	8	104240321	104240321	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:104240321C>A	ENST00000309982.5	+	3	620	c.432C>A	c.(430-432)gtC>gtA	p.V144V	RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000297574.6_Silent_p.V179V|BAALC_ENST00000523754.1_3'UTR	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	179						centrosome|membrane|nucleus		p.V144V(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGAACTGTGTCAACTAGCAGA	0.458000													12	32					2.27111e-07	2.97562e-07	0.001368	1	0
C1orf173	127254	broad.mit.edu	37	1	75037310	75037310	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:75037310C>A	ENST00000326665.5	-	14	4302	c.4084G>T	c.(4084-4086)Ggt>Tgt	p.G1362C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1362	Glu-rich.							p.G1362C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCTCCGAACCTGCCAACACC	0.527000													6	106					0.000157383	0.000183376	0.003080	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262628	140262628	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140262628A>C	ENST00000289272.2	+	1	775	c.775A>C	c.(775-777)Aca>Cca	p.T259P	PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T259P|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.T259P(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAATGGAACATTAGTGAT	0.433000													16	57					0	0	0.006122	0	0
SERPINH1	871	broad.mit.edu	37	11	75277965	75277965	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:75277965G>C	ENST00000524558.1	+	2	2006	c.571G>C	c.(571-573)Gac>Cac	p.D191H	SERPINH1_ENST00000533603.1_Missense_Mutation_p.D191H|SERPINH1_ENST00000358171.3_Missense_Mutation_p.D191H|SERPINH1_ENST00000530284.1_Missense_Mutation_p.D191H			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	191					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	p.D191H(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGTCACCAAGGACGTGGAGCG	0.667000													4	36					0	0	0.000602	0	0
TTLL5	23093	broad.mit.edu	37	14	76259372	76259372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:76259372C>T	ENST00000298832.9	+	27	3305	c.3100C>T	c.(3100-3102)Cag>Tag	p.Q1034*	TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q543*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q585*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1049*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1034					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.Q1034*(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGCTGAACTTCAGCGGCTAGC	0.473000													5	123					0	0	0.000602	0	0
ZNF440	126070	broad.mit.edu	37	19	11943498	11943498	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:11943498G>C	ENST00000304060.5	+	4	1671	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D503H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGTTCCTTTTGATATCATGAA	0.418000													4	45					0	0	0.000602	0	0
PEG10	23089	broad.mit.edu	37	7	94293471	94293471	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:94293471G>T	ENST00000482108.1	+	2	1082	c.603G>T	c.(601-603)gcG>gcT	p.A201A	PEG10_ENST00000488574.1_Silent_p.A201A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	201	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.A201A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACGAGCCTGCGCTGATTGACC	0.582000													19	114					2.32416e-17	3.81614e-17	0.002299	1	0
HRG	3273	broad.mit.edu	37	3	186394866	186394866	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:186394866C>T	ENST00000232003.4	+	7	852	c.772C>T	c.(772-774)Cat>Tat	p.H258Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	258					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.H258Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGTACCGCCTCATTTGGGACA	0.453000													18	85					0	0	0.008871	0	0
TMC2	117532	broad.mit.edu	37	20	2616632	2616632	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:2616632G>T	ENST00000358864.1	+	18	2382	c.2367G>T	c.(2365-2367)ctG>ctT	p.L789L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	789						integral to membrane		p.L789L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGCCCAGCTGAGGAAGAAAA	0.463000													30	71					3.03874e-20	5.12712e-20	0.003271	1	0
STARD8	9754	broad.mit.edu	37	X	67939192	67939192	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:67939192C>A	ENST00000252336.6	+	6	1973	c.1601C>A	c.(1600-1602)aCc>aAc	p.T534N	STARD8_ENST00000374597.3_Missense_Mutation_p.T534N|STARD8_ENST00000374599.3_Missense_Mutation_p.T614N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	534					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.T534N(2)|p.T614N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGCGGCTTACCGCGTTCATG	0.607000													7	17					0.00198382	0.00220158	0.001984	1	0
LRRC23	10233	broad.mit.edu	37	12	7021987	7021987	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:7021987C>T	ENST00000007969.8	+	7	1072	c.852C>T	c.(850-852)gaC>gaT	p.D284D	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000443597.2_Silent_p.D284D	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	284	LRRCT.							p.D284D(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CATGCACGGACGAAACCAGCT	0.602000													7	138					0	0	0.001984	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177795	70177795	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:70177795C>A	ENST00000377420.1	-	1	1020	c.189G>T	c.(187-189)cgG>cgT	p.R63R		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	63					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R63R(2)		endometrium(5)|lung(2)	7						CCCCGCCCCACCGGGCCACCT	0.662000													10	55					1.2644e-06	1.62025e-06	0.010504	1	0
B3GAT2	135152	broad.mit.edu	37	6	71603888	71603888	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:71603888C>G	ENST00000230053.6	-	2	1287	c.679G>C	c.(679-681)Gtt>Ctt	p.V227L		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	227					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V227L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAGCCAACAACTTTGCCGTTT	0.577000													6	58					0	0	0.004482	0	0
TDRD1	56165	broad.mit.edu	37	10	115982366	115982366	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:115982366A>C	ENST00000251864.2	+	21	3064	c.2911A>C	c.(2911-2913)Atg>Ctg	p.M971L	TDRD1_ENST00000422662.1_Missense_Mutation_p.M575L|TDRD1_ENST00000369281.2_Missense_Mutation_p.M857L|TDRD1_ENST00000369282.1_Missense_Mutation_p.M971L|TDRD1_ENST00000369280.1_Missense_Mutation_p.M971L	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	971					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.M971L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGCTGTGCATGTTGACAGC	0.358000													4	70					0	0	0.009096	0	0
NRXN1	9378	broad.mit.edu	37	2	50464028	50464028	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:50464028C>A	ENST00000404971.1	-	19	4904	c.3565G>T	c.(3565-3567)Gca>Tca	p.A1189S	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1141S|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1149S|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1149S|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1141S|NRXN1_ENST00000401710.1_Missense_Mutation_p.A167S|NRXN1_ENST00000342183.5_Missense_Mutation_p.A114S|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1149S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1149	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A114S(1)|p.A1189S(1)|p.A1190S(1)|p.A1149S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCTGTCTGCTCGTGTACTG	0.463000													11	61					0.000978159	0.00109979	0.000978	1	0
HELZ2	85441	broad.mit.edu	37	20	62198635	62198635	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:62198635C>A	ENST00000467148.1	-	6	2145	c.2076G>T	c.(2074-2076)ctG>ctT	p.L692L	HELZ2_ENST00000427522.2_Silent_p.L123L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.L692L(1)									GGTCGCCCGCCAGCACGAGGC	0.687000													5	7					5.9392e-07	7.70296e-07	0.001168	1	0
GFRAL	389400	broad.mit.edu	37	6	55216093	55216093	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:55216093G>T	ENST00000340465.2	+	5	499	c.413G>T	c.(412-414)tGt>tTt	p.C138F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	138						integral to membrane	receptor activity	p.C138F(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAGAGGCATGTGTAGGGGAT	0.463000													76	192					5.71386e-39	1.00777e-38	0.003610	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762817	130762817	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:130762817C>A	ENST00000392429.1	+	2	3628	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P417Q|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P417Q	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	417						integral to membrane		p.P417Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CGGAAACATCCAAGTTGGCCT	0.483000													10	43					6.40141e-05	7.61057e-05	0.000978	1	0
AUTS2	26053	broad.mit.edu	37	7	69599543	69599543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:69599543G>T	ENST00000342771.4	+	4	967	c.646G>T	c.(646-648)Gga>Tga	p.G216*	AUTS2_ENST00000403018.2_Nonsense_Mutation_p.G216*|AUTS2_ENST00000406775.2_Nonsense_Mutation_p.G216*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	216								p.G216*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTCCAGCTTGGGAACAGGCTA	0.393000													34	133					1.47197e-15	2.36843e-15	0.007835	1	0
CTNNBL1	56259	broad.mit.edu	37	20	36470800	36470800	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:36470800G>C	ENST00000405275.2	+	14	1533	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.K205N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.K457N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.K270N			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	457					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	p.K457N(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGGCGGACAAGAAGATTGAAG	0.478000													11	66					0	0	0.000978	0	0
ACVRL1	94	broad.mit.edu	37	12	52306955	52306955	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:52306955C>A	ENST00000550683.1	+	2	277	c.176C>A	c.(175-177)aCc>aAc	p.T59N	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Missense_Mutation_p.T45N	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	45					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.T45N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AAGGGGCCTACCTGCCGGGGG	0.672000													6	9					2.0095e-06	2.54206e-06	0.001984	1	0
GGA3	23163	broad.mit.edu	37	17	73237030	73237030	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:73237030C>A	ENST00000245541.6	-	11	1271	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	GGA3_ENST00000582717.1_Missense_Mutation_p.G280V|GGA3_ENST00000351904.7_Missense_Mutation_p.G319V|GGA3_ENST00000538886.1_Missense_Mutation_p.G230V|GGA3_ENST00000578348.1_Missense_Mutation_p.G230V|GGA3_ENST00000582486.1_Missense_Mutation_p.G280V	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	352	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.G352V(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GATTGGGATGCCTGAGGAGGG	0.647000											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	60					0.00909568	0.0098639	0.009096	1	0
SSPO	23145	broad.mit.edu	37	7	149523230	149523230	+	RNA	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:149523230C>A	ENST00000378016.2	+	0	14316							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.P160H(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGGTCAGCCTGGAGCAGTT	0.642000													13	56					0.00185496	0.00206571	0.001855	1	0
ZNF479	90827	broad.mit.edu	37	7	57188263	57188263	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:57188263G>T	ENST00000331162.4	-	5	1129	c.859C>A	c.(859-861)Cac>Aac	p.H287N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H287N(1)		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)			ATTCTCTTGTGGTTAGTAAGT	0.448000													6	78					5.18039e-06	6.43913e-06	0.003080	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952487	119952487	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:119952487G>T	ENST00000307142.4	+	4	2753	c.2557G>T	c.(2557-2559)Gct>Tct	p.A853S	SYNPO2_ENST00000434046.2_Missense_Mutation_p.A853S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.A853S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	853						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.A853S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AACAGTCAATGCTGTTCAGCC	0.498000													22	68					1.50039e-11	2.21692e-11	0.001882	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209566	140209566	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140209566G>T	ENST00000529310.1	+	1	2004	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.E630D(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGGCGAGATCAGCACCA	0.662000													16	37					4.96729e-08	6.62994e-08	0.008871	1	0
CD2	914	broad.mit.edu	37	1	117303199	117303199	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:117303199C>T	ENST00000369478.3	+	3	666	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	186	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	p.C186C(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AATTCAAGTGCACAGCAGGGA	0.517000													5	34					0	0	0.001168	0	0
NFKBID	84807	broad.mit.edu	37	19	36386965	36386965	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:36386965G>A	ENST00000396901.1	-	9	1096	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	NFKBID_ENST00000352614.2_Missense_Mutation_p.P327S|NFKBID_ENST00000606253.1_Missense_Mutation_p.P175S	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	175					inflammatory response	nucleus		p.P175S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AGCACCCGGGGACAGAGGTCG	0.622000													21	49					0	0	0.002299	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39566009	39566009	+	RNA	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:39566009G>A	ENST00000432258.1	+	0	1423				AC003958.2_ENST00000430006.1_RNA																							GACATCCGATGCCACATGAGA	0.512000													3	1					0	0	0.004672	0	0
C21orf128	150147	broad.mit.edu	37	21	43528422	43528422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr21:43528422G>T	ENST00000329015.2	-	1	222	c.71C>A	c.(70-72)tCa>tAa	p.S24*	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408910.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						GCTGGAGGTTGAGTAGCACCC	0.632000													4	2					1.23904e-05	1.50799e-05	0.000602	1	0
WDR33	55339	broad.mit.edu	37	2	128482706	128482706	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:128482706C>A	ENST00000322313.4	-	9	1093	c.935G>T	c.(934-936)tGt>tTt	p.C312F		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	312					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.C312F(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAAAGTTTACAGAGATGATC	0.388000													28	37					1.42536e-11	2.11091e-11	0.004656	1	0
BAMBI	25805	broad.mit.edu	37	10	28971061	28971061	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:28971061G>T	ENST00000375533.3	+	3	1070	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	172					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	p.A172S(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						TATTATGTTGGCCCTGAGGAT	0.512000													6	43					3.59834e-05	4.32609e-05	0.001168	1	0
RGS1	5996	broad.mit.edu	37	1	192547448	192547448	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:192547448C>A	ENST00000367459.3	+	4	443	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	RGS1_ENST00000469578.2_Missense_Mutation_p.S126Y	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	126	RGS.				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	p.S126Y(1)|p.S113Y(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAAACAGAGTCTGATCTTTTG	0.373000													57	127					2.30037e-20	3.88641e-20	0.003610	1	0
APBB2	323	broad.mit.edu	37	4	40936666	40936666	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:40936666T>A	ENST00000295974.8	-	9	1784	c.1155A>T	c.(1153-1155)gaA>gaT	p.E385D	APBB2_ENST00000508593.1_Missense_Mutation_p.E386D|APBB2_ENST00000513140.1_Missense_Mutation_p.E364D|APBB2_ENST00000506352.1_Missense_Mutation_p.E364D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	385					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.E364D(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGGTTGCTCCTTCAAACTCTT	0.433000													6	30					0	0	0.001168	0	0
SARDH	1757	broad.mit.edu	37	9	136570127	136570127	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:136570127G>T	ENST00000371872.4	-	12	1754	c.1497C>A	c.(1495-1497)ttC>ttA	p.F499L	SARDH_ENST00000422262.2_Missense_Mutation_p.F331L|SARDH_ENST00000439388.1_Missense_Mutation_p.F499L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	499					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.F499L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCGCTCCTGGAACACGCAGC	0.657000													3	2					0.004672	0.00512284	0.004672	1	0
ABCC1	4363	broad.mit.edu	37	16	16150007	16150007	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:16150007G>T	ENST00000399408.2	+	12	1707	c.1532G>T	c.(1531-1533)gGg>gTg	p.G511V	ABCC1_ENST00000399410.3_Missense_Mutation_p.G511V|ABCC1_ENST00000351154.5_Missense_Mutation_p.G511V|ABCC1_ENST00000346370.5_Missense_Mutation_p.G511V|ABCC1_ENST00000349029.5_Missense_Mutation_p.G511V|ABCC1_ENST00000345148.5_Missense_Mutation_p.G511V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	511	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G511V(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTCTCAATGGGATCAAAGTG	0.527000													10	38					1.58986e-06	2.02518e-06	0.008291	1	0
NPHP4	261734	broad.mit.edu	37	1	6021958	6021958	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:6021958T>A	ENST00000378156.4	-	6	834	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	190					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.K190M(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGTGTGGCTTCAGCGTGTA	0.522000													4	26					0	0	0.000602	0	0
SP4	6671	broad.mit.edu	37	7	21516849	21516849	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:21516849G>A	ENST00000222584.3	+	4	2049	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	611					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.D611N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGACTTCTGATCAAGAGGT	0.463000													9	42					0	0	0.006214	0	0
OR6B1	135946	broad.mit.edu	37	7	143701184	143701184	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:143701184T>C	ENST00000408922.2	+	1	163	c.95T>C	c.(94-96)cTt>cCt	p.L32P		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L32P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTGATATTCCTTGTGGCCTAT	0.488000													3	68					0	0	0.009096	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464798	202464798	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:202464798C>T	ENST00000406302.3	+	17	2589	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	PPP1R12B_ENST00000391959.3_Silent_p.F38F|PPP1R12B_ENST00000367270.4_Silent_p.F38F|PPP1R12B_ENST00000336894.4_Silent_p.F812F|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	812					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.F812F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCATCAATTTCTGGACAAAGG	0.473000													9	44					0	0	0.000978	0	0
MAST2	23139	broad.mit.edu	37	1	46500535	46500535	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:46500535T>A	ENST00000361297.2	+	29	4477	c.4194T>A	c.(4192-4194)cgT>cgA	p.R1398R	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.R1208R	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1398					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.S1399T(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCCACCCCGTTCACCACTAC	0.602000													10	68					0	0	0.006214	0	0
USP13	8975	broad.mit.edu	37	3	179448421	179448421	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:179448421G>T	ENST00000263966.3	+	10	1649	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	USP13_ENST00000496897.1_Missense_Mutation_p.G328V|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	393					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G393F(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTAGGACATGGCCTTCTCTCA	0.408000													12	27					6.49762e-13	9.90848e-13	0.006122	1	0
C6orf118	168090	broad.mit.edu	37	6	165715075	165715075	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:165715075C>G	ENST00000543069.1	-	2	1005	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	C6orf118_ENST00000230301.8_Missense_Mutation_p.E246Q			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	246								p.E246Q(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCTTTCTCTCGTGGCCCGCG	0.597000													9	48					0	0	0.004482	0	0
R3HDM1	23518	broad.mit.edu	37	2	136380227	136380227	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:136380227C>T	ENST00000264160.4	+	7	792	c.422C>T	c.(421-423)tCc>tTc	p.S141F	R3HDM1_ENST00000409606.1_Missense_Mutation_p.S141F|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S97F|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S85F|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S97F	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	141							nucleic acid binding	p.S141F(1)		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)		TTTTTAGATTCCAGTCAAGAA	0.274000													4	29					0	0	0.009096	0	0
BTBD7	55727	broad.mit.edu	37	14	93761036	93761036	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:93761036T>C	ENST00000334746.5	-	3	637	c.330A>G	c.(328-330)gcA>gcG	p.A110A	BTBD7_ENST00000555525.1_Silent_p.A110A|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.A110A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	110								p.A110A(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTCCTTTAATGCTGATGTTC	0.453000													23	87					0	0	0.002780	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721223	222721223	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:222721223G>A	ENST00000343410.6	-	1	222	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	55					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.P55L(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)		AAGGTGCAGAGGGGGCTGGAA	0.582000													5	54					0	0	0.000602	0	0
GOLGA3	2802	broad.mit.edu	37	12	133357432	133357432	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:133357432C>T	ENST00000204726.3	-	18	4092	c.3534G>A	c.(3532-3534)caG>caA	p.Q1178Q	GOLGA3_ENST00000456883.2_Silent_p.Q1178Q|GOLGA3_ENST00000450791.2_Silent_p.Q1178Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1178					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.Q1178Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTAGTGAGGCCTGCAGGGCCT	0.562000													30	51					0	0	0.007291	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727634	20727634	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:20727634C>A	ENST00000427401.4	-	4	1469	c.1375G>T	c.(1375-1377)Ggc>Tgc	p.G459C		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	459					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G458C(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGGCTTTGCCACATTCTTCA	0.423000													12	29					2.68362e-12	4.05384e-12	0.001368	1	0
MED16	10025	broad.mit.edu	37	19	886165	886165	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:886165C>T	ENST00000312090.6	-	5	634	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	MED16_ENST00000269814.4_Missense_Mutation_p.V162I|MED16_ENST00000395808.3_Missense_Mutation_p.V162I|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.V162I|MED16_ENST00000325464.1_Missense_Mutation_p.V162I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	162					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.V162I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAACTTGACTCGGGAGAAC	0.682000													3	9					0	0	0.009096	0	0
RFX4	5992	broad.mit.edu	37	12	107048028	107048028	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:107048028G>A	ENST00000392842.1	+	4	628	c.214G>A	c.(214-216)Gca>Aca	p.A72T	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.A81T	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	72					transcription, DNA-dependent	nucleus	DNA binding	p.A72T(1)|p.A81T(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTATGAGATTGCAGAGGGGGT	0.483000													14	76					0	0	0.002450	0	0
SF3B4	10262	broad.mit.edu	37	1	149895850	149895850	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:149895850C>A	ENST00000271628.8	-	5	1554	c.970G>T	c.(970-972)Gct>Tct	p.A324S		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	324						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.A324S(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGGTCCAGCGTGGGGATGT	0.582000													5	16					0.000602214	0.000681872	0.000602	1	0
ZNF746	155061	broad.mit.edu	37	7	149174026	149174026	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:149174026T>A	ENST00000340622.3	-	6	1105	c.825A>T	c.(823-825)gcA>gcT	p.A275A	ZNF746_ENST00000458143.2_Silent_p.A275A			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	275					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.A275A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGTGGAGGCTGCTGTGTTGA	0.602000													12	152					0	0	0.003163	0	0
ENPP5	59084	broad.mit.edu	37	6	46135616	46135616	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:46135616C>G	ENST00000371383.2	-	3	644	c.384G>C	c.(382-384)caG>caC	p.Q128H	ENPP5_ENST00000230565.3_Missense_Mutation_p.Q128H			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	128						extracellular region|integral to membrane	hydrolase activity	p.Q128H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GTCCTGCCCTCTGGTTTGTGA	0.413000													13	111					0	0	0.002450	0	0
FSHR	2492	broad.mit.edu	37	2	49190148	49190148	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:49190148C>G	ENST00000406846.2	-	10	1931	c.1812G>C	c.(1810-1812)gtG>gtC	p.V604V	FSHR_ENST00000304421.4_Silent_p.V578V|FSHR_ENST00000541117.1_Silent_p.V340V|FSHR_ENST00000346173.3_Silent_p.V542V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	604					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.V604V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGCTTTGGACACAGTGATGA	0.493000									Gonadal Dysgenesis, 46 XX				7	43					0	0	0.003080	0	0
ZNF768	79724	broad.mit.edu	37	16	30537224	30537224	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:30537224A>C	ENST00000380412.5	-	2	412	c.237T>G	c.(235-237)ttT>ttG	p.F79L	ZNF768_ENST00000562803.1_Missense_Mutation_p.F48L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	79	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.F79L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTCAGGCTCAAATCTGGGGC	0.567000													12	69					0	0	0.000978	0	0
OR14A16	284532	broad.mit.edu	37	1	247978624	247978624	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:247978624C>T	ENST00000357627.1	-	1	407	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGGTGCTCCTGTCCATGA	0.517000													34	113					0	0	0.002836	0	0
FGF12	2257	broad.mit.edu	37	3	192078262	192078262	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:192078262G>T	ENST00000454309.2	-	2	1090	c.265C>A	c.(265-267)Cca>Aca	p.P89T	FGF12_ENST00000445105.1_Missense_Mutation_p.P27T|FGF12_ENST00000264730.3_Missense_Mutation_p.P27T|FGF12_ENST00000450716.1_Missense_Mutation_p.P27T|FGF12_ENST00000430714.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	89					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.P89T(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACCATCTGGGTGCATCTGC	0.408000													38	89					1.15183e-24	1.98251e-24	0.009718	1	0
GDF10	2662	broad.mit.edu	37	10	48426633	48426633	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:48426633C>G	ENST00000224605.2	-	3	1639	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	458					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.E458D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATTCCGATTCTCATCCAGGA	0.577000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	91					0	0	0.005443	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475588	42475588	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:42475588C>A	ENST00000434000.1	-	9	3905	c.3623G>T	c.(3622-3624)aGt>aTt	p.S1208I	GPATCH8_ENST00000591680.1_Missense_Mutation_p.S1286I			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1286						intracellular	nucleic acid binding|zinc ion binding	p.S1286I(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGATCCCCACTGGGAGGTGC	0.577000													15	131					2.23348e-06	2.81432e-06	0.004007	1	0
CSMD3	114788	broad.mit.edu	37	8	113933898	113933898	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:113933898C>T	ENST00000297405.5	-	10	1835	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E491K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E531K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	531	Sushi 2.					integral to membrane|plasma membrane		p.E491K(1)|p.E531K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAAAAACTTCAGCTATCCGT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	71					0	0	0.001368	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111622952	111622952	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:111622952C>A	ENST00000527614.1	-	10	1334	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L	PPP2R1B_ENST00000311129.5_Silent_p.L423L|PPP2R1B_ENST00000341980.6_Silent_p.L378L|PPP2R1B_ENST00000426998.2_Silent_p.L359L|PPP2R1B_ENST00000393055.2_Silent_p.L296L|PPP2R1B_ENST00000427203.2_Silent_p.L262L	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	423							protein binding	p.L423L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATCTTCTGCCAGCTCCACTA	0.507000													20	62					4.96729e-08	6.62994e-08	0.008871	1	0
IL18R1	8809	broad.mit.edu	37	2	103003409	103003409	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:103003409G>C	ENST00000409599.1	+	9	1254	c.898G>C	c.(898-900)Gtg>Ctg	p.V300L	IL18R1_ENST00000233957.1_Missense_Mutation_p.V300L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	300	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.V300L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAATTGCACTGTGGCCAGCAC	0.388000													31	68					0	0	0.002836	0	0
MYH1	4619	broad.mit.edu	37	17	10408159	10408159	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:10408159C>G	ENST00000226207.5	-	22	2753	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	887						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E887Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATTTTTTTCTTGCATCAGA	0.428000													3	53					0	0	0.004672	0	0
SLC38A7	55238	broad.mit.edu	37	16	58712262	58712262	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:58712262C>T	ENST00000570101.1	-	4	1469	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.E196K|SLC38A7_ENST00000564010.1_Missense_Mutation_p.E107K|SLC38A7_ENST00000564100.1_Missense_Mutation_p.E196K			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	196					amino acid transport|sodium ion transport	integral to membrane		p.E196K(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						AAACCAATCTCCCTGGGGATG	0.597000													5	61					0	0	0.000602	0	0
OR56A4	120793	broad.mit.edu	37	11	6023420	6023420	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:6023420C>T	ENST00000330728.4	-	1	1004	c.959G>A	c.(958-960)aGg>aAg	p.R320K		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R320K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATTCTCTTCCTGGCCAGGTT	0.542000													11	25					0	0	0.001855	0	0
CDH11	1009	broad.mit.edu	37	16	64981514	64981514	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:64981514C>A	ENST00000268603.4	-	13	2998	c.2383G>T	c.(2383-2385)Gat>Tat	p.D795Y	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.D669Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	795					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D795Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTAAGAATCGTCATCAAAA	0.363000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			25	62					9.57634e-11	1.38469e-10	0.003330	1	0
DTX2	113878	broad.mit.edu	37	7	76111985	76111985	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:76111985G>T	ENST00000324432.5	+	5	939	c.429G>T	c.(427-429)gtG>gtT	p.V143V	DTX2_ENST00000307569.8_Silent_p.V143V|DTX2_ENST00000446600.1_Silent_p.V52V|DTX2_ENST00000446820.2_Silent_p.V143V|DTX2_ENST00000413936.2_Silent_p.V143V|DTX2_ENST00000430490.2_Silent_p.V143V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	143	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.V143V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACCAGCTCGTGGACTTGGCCC	0.617000													10	19					2.80697e-09	3.90483e-09	0.000978	1	0
TFAP2A	7020	broad.mit.edu	37	6	10404933	10404933	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:10404933G>C	ENST00000379613.3	-	4	834	c.578C>G	c.(577-579)tCc>tGc	p.S193C	TFAP2A_ENST00000482890.1_Missense_Mutation_p.S191C|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191C|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185C|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187C|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	191					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S191C(1)|p.S185C(1)|p.S187C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627000													11	90					0	0	0.002450	0	0
CRISP2	7180	broad.mit.edu	37	6	49665594	49665594	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:49665594T>C	ENST00000339139.4	-	8	730	c.494A>G	c.(493-495)tAt>tGt	p.Y165C		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	165						extracellular space		p.Y165C(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGGCAAACATAGTAGTATTT	0.333000													46	106					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21234160	21234160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:21234160C>A	ENST00000233242.1	-	26	5707	c.5580G>T	c.(5578-5580)caG>caT	p.Q1860H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1860					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q1860H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTCCACACCCTGAACCTTAG	0.438000													8	78					1.12685e-05	1.37275e-05	0.004482	1	0
CACNA1G	8913	broad.mit.edu	37	17	48699019	48699019	+	Splice_Site	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:48699019A>G	ENST00000354983.4	+	33	6195		c.e33-1		CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000507510.2_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.?(3)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCCTGTCTAGATCCCTCTA	0.557000													3	26					0	0	0.004672	0	0
SORBS1	10580	broad.mit.edu	37	10	97096425	97096425	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:97096425C>G	ENST00000371247.2	-	30	3681	c.3492G>C	c.(3490-3492)caG>caC	p.Q1164H	SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.Q1118H|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.Q1023H|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.Q1164H|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.Q1023H			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1164					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.Q1164H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAGAGTCTCTGTTCAGTAC	0.592000													10	84					0	0	0.008291	0	0
OR2T27	403239	broad.mit.edu	37	1	248813773	248813773	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248813773C>A	ENST00000344889.3	-	1	412	c.413G>T	c.(412-414)cGc>cTc	p.R138L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R138L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557000													11	41					7.93312e-07	1.01963e-06	0.002450	1	0
HOXD13	3239	broad.mit.edu	37	2	176957939	176957939	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:176957939C>T	ENST00000392539.3	+	1	321	c.321C>T	c.(319-321)tgC>tgT	p.C107C		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	107					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	p.C107C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CCAAAGAGTGCCCAGCACCCA	0.692000			T	NUP98	AML*								9	15					0	0	0.008291	0	0
LAMA5	3911	broad.mit.edu	37	20	60886057	60886057	+	Silent	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:60886057G>C	ENST00000252999.3	-	74	10248	c.10182C>G	c.(10180-10182)ctC>ctG	p.L3394L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3394	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L3394L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCAGGAAGAGCGCCAGGG	0.697000													5	31					0	0	0.000602	0	0
GNAT3	346562	broad.mit.edu	37	7	80091554	80091554	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:80091554G>T	ENST00000398291.3	-	7	888	c.795C>A	c.(793-795)gtC>gtA	p.V265V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	265					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.V265V(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TGAGGAACAGGACAATGGAGG	0.348000													7	32					2.0095e-06	2.54206e-06	0.001984	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134268	91134268	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chrX:91134268G>T	ENST00000373094.1	+	2	3874	c.3029G>T	c.(3028-3030)aGa>aTa	p.R1010I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1010I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1010I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1010					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R1010I(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACACACCAGACCGGTAGGT	0.398000													12	101					9.05144e-12	1.35772e-11	0.001855	1	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343154	69343154	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr4:69343154G>T	ENST00000305363.4	+	8	839	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	259	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G259C(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATGAAACGGGGTCTCCGGAG	0.388000													76	216					9.63364e-24	1.65369e-23	0.003610	1	0
OR7D4	125958	broad.mit.edu	37	19	9325354	9325354	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:9325354G>T	ENST00000308682.2	-	1	188	c.160C>A	c.(160-162)Cac>Aac	p.H54N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H54N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTGTGGAGGTGGGAGTCAGAG	0.557000													29	68					1.74807e-11	2.57399e-11	0.002096	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229598	160229598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:160229598G>A	ENST00000392783.2	-	27	4666	c.4171C>T	c.(4171-4173)Caa>Taa	p.Q1391*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q1355*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q1357*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q1291*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1391				Q -> R (in Ref. 1; BAA89212).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q1391*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCCCCACATTGGGGAAGAATC	0.413000													17	44					0	0	0.002299	0	0
DVL3	1857	broad.mit.edu	37	3	183888122	183888122	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:183888122G>T	ENST00000313143.3	+	15	1978	c.1730G>T	c.(1729-1731)gGc>gTc	p.G577V	DVL3_ENST00000431765.1_Missense_Mutation_p.G560V|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	577					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.G577V(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGAGCAGTGGCTCCAACCGT	0.697000													5	12					3.59834e-05	4.32609e-05	0.001168	1	0
SALL1	6299	broad.mit.edu	37	16	51175915	51175915	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:51175915A>T	ENST00000251020.4	-	2	251	c.218T>A	c.(217-219)aTc>aAc	p.I73N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	73					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I73N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTCATTTACGATTAAAACTAA	0.443000													33	89					0	0	0.003755	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374338	138374338	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:138374338C>T	ENST00000477593.1	-	23	3179	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	PIK3CB_ENST00000544716.1_Missense_Mutation_p.E487K|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1036K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1036	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E1036K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTGAGTGCTTCTTCTTCACTC	0.403000													29	47					0	0	0.007291	0	0
BICD1	636	broad.mit.edu	37	12	32480545	32480545	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:32480545G>C	ENST00000548411.1	+	5	1337	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	BICD1_ENST00000281474.5_Missense_Mutation_p.E386Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	386					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E386Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAGCAGCAAGGAGCTCAAGGC	0.592000													12	23					0	0	0.000978	0	0
GPR151	134391	broad.mit.edu	37	5	145894570	145894570	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:145894570G>T	ENST00000311104.2	-	1	1183	c.1107C>A	c.(1105-1107)tcC>tcA	p.S369S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	369						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S369S(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGCCAGAGGAGGGAGAGC	0.512000													22	74					1.87028e-06	2.37767e-06	0.001882	1	0
OR4A15	81328	broad.mit.edu	37	11	55136241	55136241	+	Silent	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:55136241C>A	ENST00000314706.3	+	1	882	c.882C>A	c.(880-882)ccC>ccA	p.P294P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P294P(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACTTTTCCCATTGATAAAT	0.403000													41	163					2.66277e-13	4.0946e-13	0.006999	1	0
LINCMD1	101154644	broad.mit.edu	37	6	52013774	52013774	+	RNA	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:52013774C>T	ENST00000418518.2	-	0	238				MIR133B_ENST00000362210.1_RNA																							CCAAGTCCGTCTTCCTGAGAG	0.517000													26	41					0	0	0.007291	0	0
CPSF7	79869	broad.mit.edu	37	11	61187394	61187394	+	Splice_Site	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:61187394C>A	ENST00000340437.4	-	5	759	c.679_splice	c.e5+1	p.G227_splice	CPSF7_ENST00000394888.4_Splice_Site_p.G184_splice|CPSF7_ENST00000439958.3_Intron|CPSF7_ENST00000448745.1_Intron	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	184	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	p.G184*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTCCACGTACCCCCTCTTGGG	0.557000													23	83					2.44723e-14	3.82734e-14	0.004656	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14782613	14782613	+	Splice_Site	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:14782613G>T	ENST00000358984.4	+	12	1750	c.1570_splice	c.e12+1	p.E524_splice	ANKRD30B_ENST00000447268.2_Splice_Site_p.E524_splice|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	524								p.E524*(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAGTAGAAGGTAAGAACAA	0.318000													9	21					1.12685e-05	1.37275e-05	0.004482	1	0
BRD4	23476	broad.mit.edu	37	19	15354287	15354287	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:15354287C>T	ENST00000263377.2	-	14	2814	c.2593G>A	c.(2593-2595)Gca>Aca	p.A865T		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	865					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.A865T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGGTAGTGCGTTGTGCAAA	0.657000			T	C15orf55	lethal midline carcinoma of young people								5	9					0	0	0.000602	0	0
UBBP4	23666	broad.mit.edu	37	17	21731048	21731048	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:21731048A>G	ENST00000584755.1	+	2	747	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.Q117R														p.Q117R(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCCGACCAGCAGAGGCTCATC	0.547000													24	78					0	0	0.003954	0	0
PKD1L2	114780	broad.mit.edu	37	16	81183300	81183300	+	RNA	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:81183300T>A	ENST00000533478.1	-	0	2803				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.D1583V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTACCCAAGTCCATCTTTTG	0.577000													10	7					0	0	0.000978	0	0
CKAP5	9793	broad.mit.edu	37	11	46812053	46812053	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:46812053C>T	ENST00000529230.1	-	14	1777	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	CKAP5_ENST00000354558.3_Silent_p.L577L|CKAP5_ENST00000312055.5_Silent_p.L577L|CKAP5_ENST00000415402.1_Silent_p.L577L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	577					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.L577L(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTTTAGTCTCCAGTCCTTTCT	0.458000													11	50					0	0	0.001368	0	0
LRRC7	57554	broad.mit.edu	37	1	70505161	70505161	+	Silent	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:70505161A>G	ENST00000310961.5	+	22	3973	c.3555A>G	c.(3553-3555)caA>caG	p.Q1185Q	LRRC7_ENST00000415775.2_Silent_p.Q464Q|LRRC7_ENST00000035383.5_Silent_p.Q1180Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1180						centrosome|focal adhesion|nucleolus	protein binding	p.Q1180Q(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTTCATATCAAGAAGTGAAAG	0.498000													7	32					0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884459	228884459	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:228884459G>T	ENST00000392056.3	-	7	1157	c.1111C>A	c.(1111-1113)Cat>Aat	p.H371N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H371N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	371						cytoplasm	protein binding	p.H371N(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGTCTTCATGGTCTCCTGGG	0.448000													11	61					1.36491e-13	2.10642e-13	0.001855	1	0
ABCC5	10057	broad.mit.edu	37	3	183700635	183700635	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:183700635C>A	ENST00000334444.6	-	6	992	c.752G>T	c.(751-753)cGg>cTg	p.R251L	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.R251L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	251	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R251L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATGGCCCCCCGCAAGCGGAC	0.512000													30	49					1.55811e-20	2.63585e-20	0.008361	1	0
OR2M4	26245	broad.mit.edu	37	1	248402587	248402587	+	Silent	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:248402587T>A	ENST00000306687.1	+	1	357	c.357T>A	c.(355-357)gcT>gcA	p.A119A		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119A(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATGGCTTATGACCGCT	0.468000													29	83					0	0	0.006320	0	0
GPR133	283383	broad.mit.edu	37	12	131622690	131622690	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:131622690C>G	ENST00000261654.5	+	24	3004	c.2445C>G	c.(2443-2445)gcC>gcG	p.A815A	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Silent_p.A501A|GPR133_ENST00000543617.1_Silent_p.A334A|GPR133_ENST00000535015.1_Silent_p.A847A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	815					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A815A(1)		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)		AGGTGAGAGCCGCCTTCAAGC	0.597000													10	12					0	0	0.001368	0	0
FAM183B	340286	broad.mit.edu	37	7	38725230	38725230	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:38725230A>G	ENST00000409072.3	-	2	1310	c.376T>C	c.(376-378)Tgg>Cgg	p.W126R						family with sequence similarity 183, member B									p.W126R(2)		endometrium(1)|lung(7)	8						CCCAAGCTCCACATTTTAGCT	0.498000													47	226					0	0	0.003610	0	0
ACTN2	88	broad.mit.edu	37	1	236917279	236917279	+	Silent	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:236917279C>G	ENST00000366578.4	+	16	2038	c.1872C>G	c.(1870-1872)tcC>tcG	p.S624S	ACTN2_ENST00000542672.1_Silent_p.S624S|ACTN2_ENST00000546208.1_Silent_p.S118S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	624					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.S624S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCGATCAATCCCTGCAGGAGG	0.582000													13	102					0	0	0.001855	0	0
ZNF436	80818	broad.mit.edu	37	1	23689076	23689076	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:23689076G>C	ENST00000314011.4	-	4	935	c.799C>G	c.(799-801)Cag>Gag	p.Q267E	ZNF436_ENST00000374608.3_Missense_Mutation_p.Q267E|ZNF436_ENST00000374609.1_Missense_Mutation_p.Q267E	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q267E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTCTGGTGCTGAGCTAGGTGA	0.507000													6	107					0	0	0.003080	0	0
IRS1	3667	broad.mit.edu	37	2	227661713	227661713	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:227661713G>T	ENST00000305123.4	-	1	2762	c.1742C>A	c.(1741-1743)tCc>tAc	p.S581Y		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	581					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.S581Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCTGGGTAGGAGCGGGTGGG	0.652000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	32					1.024e-07	1.35688e-07	0.000602	1	0
USH2A	7399	broad.mit.edu	37	1	216420442	216420442	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:216420442T>A	ENST00000366943.2	-	13	2680	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L	USH2A_ENST00000366942.3_Missense_Mutation_p.Q765L|USH2A_ENST00000307340.3_Missense_Mutation_p.Q765L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	765	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q765L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACTCACACTGCCCAGAGTG	0.448000										HNSCC(13;0.011)			42	110					0	0	0.003214	0	0
IPMK	253430	broad.mit.edu	37	10	59956169	59956169	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:59956169C>T	ENST00000373935.3	-	6	1241	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	307						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.E307K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ACTGAAGACTCTATTTTTCCA	0.368000													8	109					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94044364	94044364	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:94044364G>A	ENST00000553484.1	+	18	2542	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	UNC79_ENST00000555664.1_Missense_Mutation_p.M796I|UNC79_ENST00000393151.2_Missense_Mutation_p.M796I|UNC79_ENST00000256339.4_Missense_Mutation_p.M619I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	796						integral to membrane		p.M619I(1)|p.M796I(1)		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						ATGATGAAATGAATCTAAATT	0.423000													18	79					0	0	0.004990	0	0
CPB2	1361	broad.mit.edu	37	13	46656575	46656575	+	Splice_Site	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr13:46656575C>T	ENST00000181383.4	-	4	401		c.e4+1		CPB2_ENST00000439329.3_Splice_Site|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.?(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TGATGGCTTACTTCATTTAGT	0.418000													21	90					0	0	0.010504	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321012	79321012	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:79321012C>A	ENST00000428286.1	-	8	6301	c.5101G>T	c.(5101-5103)Ggt>Tgt	p.G1701C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G2060C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2060					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.G2060C(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCTGCCCACCCTCTTGAAAG	0.512000													48	64					3.33635e-10	4.74931e-10	0.002852	1	0
RPS9	6203	broad.mit.edu	37	19	54711356	54711356	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:54711356G>T	ENST00000302907.4	+	5	670	c.498G>T	c.(496-498)ggG>ggT	p.G166G	RPS9_ENST00000391752.1_Silent_p.G166G|RPS9_ENST00000391753.2_Silent_p.G166G|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000402367.1_3'UTR	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	166	S4 RNA-binding.			YGG -> TGV (in Ref. 1; AAA85659).	endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	p.G166G(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTCCCTACGGGGGTGGCCGCC	0.627000													16	27					1.5739e-10	2.26303e-10	0.004007	1	0
FGF12	2257	broad.mit.edu	37	3	192053165	192053165	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:192053165G>T	ENST00000454309.2	-	3	1224	c.399C>A	c.(397-399)ggC>ggA	p.G133G	FGF12_ENST00000445105.1_Silent_p.G71G|FGF12_ENST00000264730.3_Silent_p.G71G|FGF12_ENST00000450716.1_Silent_p.G71G|FGF12_ENST00000430714.1_Silent_p.G34G	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	133					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.G133G(1)|p.G5G(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGTAGAGATAGCCTTCACCAT	0.468000													13	60					6.81908e-15	1.07829e-14	0.002450	1	0
PCED1A	64773	broad.mit.edu	37	20	2816230	2816230	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:2816230G>C	ENST00000360652.2	-	8	1745	c.1243C>G	c.(1243-1245)Ccc>Gcc	p.P415A	PCED1A_ENST00000356872.3_Missense_Mutation_p.P364A	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A									p.P415A(1)									ACATGGTAGGGGCTGTTAGGA	0.632000													6	59					0	0	0.001984	0	0
RASIP1	54922	broad.mit.edu	37	19	49227757	49227757	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:49227757C>T	ENST00000222145.4	-	10	2585	c.2381G>A	c.(2380-2382)cGg>cAg	p.R794Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	794	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm		p.R794Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ATAGAAAGGCCGGCCTTGACC	0.567000													12	41					0	0	0.001855	0	0
SEMA3D	223117	broad.mit.edu	37	7	84751139	84751139	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:84751139C>T	ENST00000284136.6	-	1	112	c.69G>A	c.(67-69)atG>atA	p.M23I	SEMA3D_ENST00000444867.1_Missense_Mutation_p.M23I	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	23					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.M23I(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTTAGCATCATCAAAGCAG	0.343000													14	42					0	0	0.001855	0	0
KCNA3	3738	broad.mit.edu	37	1	111216142	111216142	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:111216142G>A	ENST00000369769.2	-	1	1513	c.1290C>T	c.(1288-1290)agC>agT	p.S430S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	430						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.S430S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCCGGGATGCTGCTGAAAC	0.542000													4	46					0	0	0.000602	0	0
GCN1L1	10985	broad.mit.edu	37	12	120592790	120592790	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:120592790C>G	ENST00000300648.6	-	31	3697	c.3685G>C	c.(3685-3687)Gat>Cat	p.D1229H		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1229					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.D1229H(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCACTGATCTGGAGGAGAT	0.527000													13	34					0	0	0.002450	0	0
SRRM3	222183	broad.mit.edu	37	7	75894765	75894765	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:75894765G>T	ENST00000388802.4	+	10	1018	c.809G>T	c.(808-810)aGt>aTt	p.S270I	SRRM3_ENST00000326382.8_Missense_Mutation_p.S270I|SRRM3_ENST00000464752.1_3'UTR					serine/arginine repetitive matrix 3									p.S270I(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCCCACTACAGTGATTCCAGA	0.637000													12	41					4.3838e-07	5.70294e-07	0.001855	1	0
HPS4	89781	broad.mit.edu	37	22	26864523	26864523	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr22:26864523C>T	ENST00000398145.2	-	8	1279	c.663G>A	c.(661-663)caG>caA	p.Q221Q	HPS4_ENST00000402105.3_Silent_p.Q216Q|HPS4_ENST00000398141.1_Silent_p.Q216Q|HPS4_ENST00000336873.5_Silent_p.Q221Q	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	221					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.Q216Q(1)|p.Q221Q(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATACCTGCTCCTGAGGTGCTG	0.592000									Hermansky-Pudlak syndrome				3	25					0	0	0.004672	0	0
PKD2L2	27039	broad.mit.edu	37	5	137271488	137271488	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:137271488G>C	ENST00000508638.1	+	11	1426	c.1371G>C	c.(1369-1371)gaG>gaC	p.E457D	PKD2L2_ENST00000350250.4_Missense_Mutation_p.E524D|PKD2L2_ENST00000502810.1_Missense_Mutation_p.E536D|PKD2L2_ENST00000290431.5_Missense_Mutation_p.E558D|PKD2L2_ENST00000508883.1_Missense_Mutation_p.E558D	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	558						integral to membrane	calcium ion binding|ion channel activity	p.E558D(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTGACAGGAGATTCAAAACG	0.403000													5	28					0	0	0.000602	0	0
ROBO4	54538	broad.mit.edu	37	11	124763628	124763628	+	Splice_Site	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:124763628T>C	ENST00000306534.3	-	10	1990		c.e10-2		ROBO4_ENST00000533054.1_Splice_Site	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)						angiogenesis|cell differentiation	integral to membrane	receptor activity	p.?(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGTACAGACCTGGGAGAAGGC	0.542000													9	46					0	0	0.001368	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885915	20885915	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:20885915G>T	ENST00000381552.1	+	10	1627	c.1259G>T	c.(1258-1260)aGt>aTt	p.S420I	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S420I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S302I|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S420I|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S371I			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	420					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.S420I(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTCAGAATCAGTGTGTGTGGA	0.413000													38	58					1.90571e-15	3.05484e-15	0.004289	1	0
KCNA2	3737	broad.mit.edu	37	1	111146418	111146418	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:111146418G>T	ENST00000485317.1	-	3	1660	c.987C>A	c.(985-987)ggC>ggA	p.G329G	KCNA2_ENST00000316361.4_Silent_p.G329G|KCNA2_ENST00000440270.1_Silent_p.G329G|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	329						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G329G(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATATCAGGAGGCCCAATTCTC	0.488000													10	58					1.08611e-07	1.43179e-07	0.000978	1	0
TANC2	26115	broad.mit.edu	37	17	61498018	61498018	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:61498018G>C	ENST00000424789.2	+	25	4679	c.4675G>C	c.(4675-4677)Ggt>Cgt	p.G1559R	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G1569R	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1559							binding	p.G1569R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCCCAGTCTGGTTCACCCGT	0.567000													3	18					0	0	0.004672	0	0
MROH9	80133	broad.mit.edu	37	1	170934323	170934323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:170934323C>A	ENST00000367759.4	+	7	561	c.407C>A	c.(406-408)tCa>tAa	p.S136*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.S136*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.S136*(2)									AAAGATAGCTCATATCTGCAA	0.358000													38	85					1.57019e-19	2.63891e-19	0.007835	1	0
MTG1	92170	broad.mit.edu	37	10	135233637	135233637	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:135233637C>T	ENST00000468317.2	+	12	1243	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	MTG1_ENST00000317502.6_Missense_Mutation_p.R325W|MTG1_ENST00000477902.2_Missense_Mutation_p.R284W														p.R325W(1)									CGACGTCCTGCGGGGCCACCC	0.637000													9	42					0	0	0.004482	0	0
IL5RA	3568	broad.mit.edu	37	3	3144499	3144499	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:3144499G>T	ENST00000446632.2	-	4	662	c.88C>A	c.(88-90)Ctt>Att	p.L30I	IL5RA_ENST00000311981.8_Missense_Mutation_p.L30I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L30I|IL5RA_ENST00000383846.1_Missense_Mutation_p.L30I|IL5RA_ENST00000418488.2_Missense_Mutation_p.L30I|IL5RA_ENST00000445864.2_Missense_Mutation_p.L30I|IL5RA_ENST00000456302.1_Missense_Mutation_p.L30I|IL5RA_ENST00000430514.2_Missense_Mutation_p.L30I|IL5RA_ENST00000438560.1_Missense_Mutation_p.L30I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	30					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.L30I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGTGGGAGAAGTGAAACTGTT	0.358000													3	20					0.004672	0.00512284	0.004672	1	0
CCDC171	203238	broad.mit.edu	37	9	15666171	15666171	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:15666171G>T	ENST00000380701.3	+	9	1254	c.926G>T	c.(925-927)cGa>cTa	p.R309L	CCDC171_ENST00000297641.3_Missense_Mutation_p.R309L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	309	Glu-rich.							p.R309L(1)									TTACGGATTCGAGACCTTGAA	0.373000													19	27					4.26978e-12	6.42719e-12	0.003330	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363209	17363209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr10:17363209C>A	ENST00000377602.4	-	8	939	c.865G>T	c.(865-867)Gag>Tag	p.E289*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	289					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E289*(2)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GCTTTAGACTCTTCGAGCGTG	0.448000													17	178					9.7654e-05	0.000114719	0.007413	1	0
ROR2	4920	broad.mit.edu	37	9	94495713	94495713	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:94495713A>G	ENST00000375708.3	-	6	826	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.F70L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	210	FZ.				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	p.F210L(1)		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						ATCATGGTGAAGGCCGCTGCA	0.642000													6	15					0	0	0.001168	0	0
RYR3	6263	broad.mit.edu	37	15	34130391	34130391	+	Silent	SNP	T	T	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:34130391T>C	ENST00000389232.4	+	89	12280	c.12210T>C	c.(12208-12210)ttT>ttC	p.F4070F	RYR3_ENST00000415757.3_Silent_p.F4065F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4070					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F4069F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTCATTTTTGATGTTGTCA	0.458000													30	80					0	0	0.009535	0	0
PLCB1	23236	broad.mit.edu	37	20	8770175	8770175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:8770175G>T	ENST00000378641.3	+	30	3764	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	PLCB1_ENST00000338037.6_Nonsense_Mutation_p.E1097*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E1097*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1097					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E1097*(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGAGAAGACAGAGATGATCCG	0.393000													5	149					0.000602214	0.000681872	0.000602	1	0
E2F8	79733	broad.mit.edu	37	11	19251862	19251862	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:19251862C>T	ENST00000527884.1	-	9	1516	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	E2F8_ENST00000250024.4_Silent_p.Q428Q|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	428					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q428Q(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGCAGAATTCTGAGAACTCT	0.418000													12	61					0	0	0.001368	0	0
KIF7	374654	broad.mit.edu	37	15	90190167	90190167	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:90190167G>T	ENST00000394412.3	-	7	1758	c.1682C>A	c.(1681-1683)cCt>cAt	p.P561H		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	561					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	p.P48N(1)|p.P561N(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGAGGTCGAGGCACAAAGGA	0.687000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	33					3.27435e-08	4.39777e-08	0.002450	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921542	178921542	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:178921542A>T	ENST00000263967.3	+	5	1181	c.1024A>T	c.(1024-1026)Acc>Tcc	p.T342S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	342					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.T342S(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCTTTGTGCAACCTACGTGAA	0.318000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			34	75					0	0	0.006230	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069369	29069369	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:29069369G>T	ENST00000373812.3	+	4	949	c.587G>T	c.(586-588)aGc>aTc	p.S196I	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S196I|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S146I|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	196					humoral immune response			p.S196I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTTGGGTAGCACAGAAGTT	0.478000													7	45					5.18039e-06	6.43913e-06	0.003080	1	0
KNTC1	9735	broad.mit.edu	37	12	123098300	123098300	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:123098300G>A	ENST00000333479.7	+	55	6046	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	KNTC1_ENST00000537348.1_Missense_Mutation_p.E382K|KNTC1_ENST00000450485.2_Missense_Mutation_p.E882K|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1957					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E1957K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACAGCCACGAGTCCATGGT	0.438000													6	18					0	0	0.004482	0	0
CD3D	915	broad.mit.edu	37	11	118209937	118209937	+	Silent	SNP	G	G	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:118209937G>A	ENST00000300692.4	-	5	592	c.456C>T	c.(454-456)ctC>ctT	p.L152L	CD3D_ENST00000392884.2_Silent_p.L108L|CD3D_ENST00000529594.1_Silent_p.L79L	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	152	ITAM.				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	p.L152L(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CTCGATCTCGGAGGGGCTAAG	0.552000													14	74					0	0	0.001855	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197400	26197400	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr6:26197400G>C	ENST00000377831.5	-	2	532	c.79C>G	c.(79-81)Cga>Gga	p.R27G	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R27G	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	27					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R27G(2)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCGCTCTTTCGAGCAGCCTTG	0.642000													5	89					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767959	77767959	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:77767959G>T	ENST00000521891.2	+	10	9250	c.8802G>T	c.(8800-8802)acG>acT	p.T2934T	ZFHX4_ENST00000518282.1_Silent_p.T2908T|ZFHX4_ENST00000050961.6_Silent_p.T2889T|ZFHX4_ENST00000455469.2_Silent_p.T2889T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2889						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2918T(1)		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)			GTTTTCGAACGCAAATGAGCA	0.473000										HNSCC(33;0.089)			7	27					1.06961e-07	1.41295e-07	0.003080	1	0
PPP4R4	57718	broad.mit.edu	37	14	94731755	94731755	+	Silent	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:94731755G>T	ENST00000304338.3	+	21	2383	c.2229G>T	c.(2227-2229)ctG>ctT	p.L743L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	743						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.L743L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CGCAAAGTCTGCCCAAGAACA	0.353000													17	58					2.94398e-08	3.97067e-08	0.007413	1	0
SLC22A12	116085	broad.mit.edu	37	11	64360946	64360946	+	Silent	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:64360946C>T	ENST00000377574.1	+	3	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	192					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.F192F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CAGCTGCCTTCGCCCCTGCCT	0.612000													10	55					0	0	0.006214	0	0
DUXA	503835	broad.mit.edu	37	19	57666721	57666721	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:57666721C>A	ENST00000554048.2	-	5	457	c.458G>T	c.(457-459)aGa>aTa	p.R153I		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R153I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TAATCTAGATCTTCGATTTTG	0.378000													16	46					4.7546e-09	6.57149e-09	0.004007	1	0
IZUMO4	113177	broad.mit.edu	37	19	2099252	2099252	+	Splice_Site	SNP	A	A	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:2099252A>C	ENST00000395307.2	+	9	1119		c.e9-1		IZUMO4_ENST00000395301.3_Splice_Site	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4							extracellular region		p.?(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GTCTCCCCGCAGCCTGGTATC	0.647000													6	14					0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085237	80085237	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr2:80085237G>T	ENST00000466387.1	+	8	1121	c.397G>T	c.(397-399)Gcg>Tcg	p.A133S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.A133S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A167S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A133S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A133S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A133S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	133					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.A133S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTTGCTCTCCGCGGTGACACG	0.517000													10	56					1.61879e-10	2.32238e-10	0.001368	1	0
H2AFX	3014	broad.mit.edu	37	11	118965693	118965693	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:118965693G>T	ENST00000530167.1	-	1	484	c.412C>A	c.(412-414)Cag>Aag	p.Q138K		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	138					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	p.Q138K(1)		lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGGAGGCCTGGGTGGCCTTC	0.711000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0.00116845	0.00130459	0.001168	1	0
SIRT7	51547	broad.mit.edu	37	17	79872196	79872196	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:79872196T>A	ENST00000328666.6	-	7	852	c.790A>T	c.(790-792)Atc>Ttc	p.I264F		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	264	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.I264F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGACACAGGATGGTGTCTGCT	0.637000													9	49					0	0	0.006214	0	0
COL14A1	7373	broad.mit.edu	37	8	121328190	121328190	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:121328190C>T	ENST00000297848.3	+	40	4883	c.4613C>T	c.(4612-4614)cCa>cTa	p.P1538L	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1538L|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1443L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1538	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1538L(1)		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)			CAGGGTATCCCAGGAGGCGTT	0.502000													4	54					0	0	0.000602	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954823	72954823	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr15:72954823C>A	ENST00000421285.3	+	11	1078	c.1078C>A	c.(1078-1080)Ctg>Atg	p.L360M		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	360								p.L360M(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCAGGAGAGACTGTGTGAACA	0.577000													42	182					1.00776e-21	1.72069e-21	0.003610	1	0
THEMIS2	9473	broad.mit.edu	37	1	28206472	28206472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:28206472delC	ENST00000373921.3	+	3	557	c.553delC	c.(553-555)cafs	p.P185fs	THEMIS2_ENST00000328928.7_Frame_Shift_Del_p.P185fs|THEMIS2_ENST00000373925.1_Frame_Shift_Del_p.P185fs|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		CCTACAGGATCCAGCCCTGAA	0.612													2	4	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158046019	158046019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:158046019delG	ENST00000368173.3	+	2	573	c.169delG	c.(169-171)ggfs	p.G57fs	KIRREL_ENST00000359209.6_Frame_Shift_Del_p.G57fs|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_5'UTR|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.G57fs	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	57	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GACCAAGGACGGGCTGGCCCT	0.622													33	99	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205492400	205492400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr1:205492400delC	ENST00000360066.2	+	2	406	c.105delC	c.(103-105)aafs	p.N35fs	CDK18_ENST00000429964.2_Frame_Shift_Del_p.N35fs|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Frame_Shift_Del_p.N35fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	33							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGCAATTCAACCAGCTCCACA	0.572													10	71	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568152	99568154	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr3:99568152_99568154delTTC	ENST00000331335.5	-	5	2836_2838	c.2366_2368delGAA	c.(2365-2370)att>a	p.RI789del	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_In_Frame_Del_p.RI789del|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_In_Frame_Del_p.RI365del|FILIP1L_ENST00000383694.2_In_Frame_Del_p.RI549del|FILIP1L_ENST00000471562.1_In_Frame_Del_p.RI549del	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	789						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GGATCGGAAATTCTTCTTCCATT	0.429													68	122	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9197405	9197406	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:9197405_9197406insA	ENST00000382496.5	-	10	1607_1608	c.942_943insT	c.(940-945)atcggcfs	p.G315fs		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	315	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGAGGCCGCAATGCTGTTCC	0.619													37	77	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													4	8	---	---	---	---					
PCDHGA4	56111	broad.mit.edu	37	5	140737040	140737040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:140737040delC	ENST00000571252.1	+	1	2273	c.2273delC	c.(2272-2274)tcfs	p.S758fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGTCTCCCTCACCGCG	0.602													27	74	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141052406	141052406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:141052406delG	ENST00000239440.4	-	8	1245	c.1180delC	c.(1180-1182)gafs	p.R394fs	ARAP3_ENST00000513878.1_Frame_Shift_Del_p.R56fs|ARAP3_ENST00000508305.1_Frame_Shift_Del_p.R316fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	394	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGAGGGGTCGGGGTGGTTGG	0.662													7	11	---	---	---	---					
ITK	3702	broad.mit.edu	37	5	156671325	156671325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr5:156671325delC	ENST00000422843.3	+	13	1438	c.1286delC	c.(1285-1287)gcfs	p.A429fs	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	429	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAGCAGGCCCCCATCTGC	0.562			T	SYK	peripheral T-cell lymphoma								18	86	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44802952	44802952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:44802952delC	ENST00000309315.4	+	13	1923	c.1800delC	c.(1798-1800)tgfs	p.C600fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Del_p.C600fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Del_p.C568fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Del_p.C542fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Del_p.C574fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	600					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTGAAGTGCCCCATCACCT	0.602													31	125	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48266979	48266979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:48266979delG	ENST00000435803.1	+	6	613	c.589delG	c.(589-591)atfs	p.D197fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	197					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATGTGGAAGATGGCATGGA	0.383													26	79	---	---	---	---					
LOC101928283	101928283	broad.mit.edu	37	7	124985058	124985058	+	RNA	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:124985058delG	ENST00000424515.2	+	0	1024																											AGCTAAATCTGGGAGATCACT	0.353													13	29	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													6	4	---	---	---	---					
ZNF862	643641	broad.mit.edu	37	7	149557773	149557773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr7:149557773delG	ENST00000223210.4	+	7	1769	c.1524delG	c.(1522-1524)acfs	p.T508fs		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GAGGTTACACGGGGCCTTTTA	0.453													14	118	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30701812	30701812	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr8:30701812delA	ENST00000256246.2	-	1	4796	c.4722delT	c.(4720-4722)cafs	p.H1574fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1574										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATAGGCGTATGATTAACTC	0.388													34	113	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131367432	131367432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr9:131367432delG	ENST00000372739.3	+	30	3949	c.3839delG	c.(3838-3840)agfs	p.R1280fs	SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.R1280fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.R1280fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1280					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCTTCGAGAGGGACCTTGCG	0.507													16	46	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71725417	71725418	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr11:71725417_71725418delCT	ENST00000393695.3	-	15	3462_3463	c.3131_3132delAG	c.(3130-3132)gfs	p.E1044fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.E1044fs|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1044					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTAGCGAACTCCACACGCTG	0.629			T	RARA	APL								14	77	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870860	12870866	+	Frame_Shift_Del	DEL	CAGGAAC	CAGGAAC	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:12870860_12870866delCAGGAAC	ENST00000228872.4	+	1	803_809	c.87_93delCAGGAAC	c.(85-93)tgfs	p.CRN29fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.CRN29fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	29					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCTCGGCCTGCAGGAACCTCTTCGGCC	0.609													18	114	---	---	---	---					
ATF7IP	55729	broad.mit.edu	37	12	14610174	14610175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr12:14610174_14610175insA	ENST00000544627.1	+	8	2447_2448	c.2127_2128insA	c.(2125-2130)tcaaagfs	p.SK709fs	ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000536444.1_Frame_Shift_Ins_p.SK700fs|ATF7IP_ENST00000261168.4_Frame_Shift_Ins_p.SK701fs|ATF7IP_ENST00000540793.1_Frame_Shift_Ins_p.SK701fs|ATF7IP_ENST00000543189.1_Frame_Shift_Ins_p.SK700fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	701	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCTGGAGTCCAAAAGAAATGT	0.356													25	28	---	---	---	---					
RHOJ	57381	broad.mit.edu	37	14	63671695	63671695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr14:63671695delC	ENST00000316754.3	+	1	570	c.108delC	c.(106-108)tgfs	p.C36fs	RHOJ_ENST00000555125.1_Frame_Shift_Del_p.C36fs|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	36					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GGAAAACCTGCCTGCTGATGA	0.562													20	80	---	---	---	---					
OTOA	146183	broad.mit.edu	37	16	21739741	21739741	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr16:21739741delG	ENST00000388958.3	+	19	2197	c.2196delG	c.(2194-2196)ctfs	p.L732fs	OTOA_ENST00000286149.4_Frame_Shift_Del_p.L746fs|OTOA_ENST00000388956.4_Frame_Shift_Del_p.L653fs|OTOA_ENST00000388957.3_Frame_Shift_Del_p.L408fs	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	746					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCAAGCTCCTGGGACAGTATG	0.602													5	9	---	---	---	---					
USP6	9098	broad.mit.edu	37	17	5048835	5048835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:5048835delC	ENST00000574788.1	+	27	4358	c.2128delC	c.(2128-2130)cafs	p.P710fs	USP6_ENST00000304328.5_Frame_Shift_Del_p.P393fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.P710fs|USP6_ENST00000332776.4_Frame_Shift_Del_p.P710fs			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	710					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGTCTTTGCCACTACCAAT	0.353			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								25	61	---	---	---	---					
PPM1D	8493	broad.mit.edu	37	17	58725272	58725272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:58725272delT	ENST00000305921.3	+	4	1078	c.846delT	c.(844-846)gafs	p.D282fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	282	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGCTATGATTTCTTCAGTG	0.418													22	77	---	---	---	---					
NPLOC4	55666	broad.mit.edu	37	17	79563220	79563220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr17:79563220delG	ENST00000374747.5	-	11	1171	c.1042delC	c.(1042-1044)agfs	p.Q348fs	NPLOC4_ENST00000539314.1_Frame_Shift_Del_p.Q187fs|NPLOC4_ENST00000331134.6_Frame_Shift_Del_p.Q348fs			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	348					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCTTGTTCTGGAAGTCTCCT	0.443													23	97	---	---	---	---					
ANKRD30B	374860	broad.mit.edu	37	18	14851756	14851756	+	Frame_Shift_Del	DEL	G	G	-	rs148887033	by1000genomes	TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:14851756delG	ENST00000358984.4	+	36	3636	c.3456delG	c.(3454-3456)acfs	p.T1152fs		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1237										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGTTCTGACGGCAGAGAACA	0.383													10	38	---	---	---	---					
SIGLEC15	284266	broad.mit.edu	37	18	43418899	43418900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr18:43418899_43418900insA	ENST00000389474.3	+	4	930_931	c.713_714insA	c.(712-714)agcfs	p.S238fs	SIGLEC15_ENST00000587418.1_Frame_Shift_Ins_p.A8fs|SIGLEC15_ENST00000546268.1_Frame_Shift_Ins_p.S84fs|SIGLEC15_ENST00000602118.2_3'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	238	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TACACGTGTACGGCCGCCAACA	0.713													7	17	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10078711	10078712	+	Frame_Shift_Ins	INS	-	-	G			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr19:10078711_10078712insG	ENST00000264828.3	-	60	4443_4444	c.4358_4359insC	c.(4357-4359)cggfs	p.R1453fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1453	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGCCACACCTGGGGGCCCAGG	0.604													26	54	---	---	---	---					
REM1	28954	broad.mit.edu	37	20	30070119	30070120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-6590-01A-12D-1855-08	TCGA-50-6590-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85de182b-f4ae-41e6-b3fb-f60f46c072e4	6e545822-70c0-4ad2-baf9-76e9621e9bc6	g.chr20:30070119_30070120insC	ENST00000201979.2	+	4	746_747	c.453_454insC	c.(451-456)ctagggfs	p.G152fs		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	152					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTCATGCCTGCAGGGGGGCAG	0.604													12	44	---	---	---	---