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
PTPRT	11122	broad.mit.edu	37	20	41420006	41420006	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:41420006G>A	ENST00000373198.3	-	3	550	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PTPRT_ENST00000356100.2_Silent_p.F105F|PTPRT_ENST00000373201.1_Silent_p.F105F|PTPRT_ENST00000373187.1_Silent_p.F105F|PTPRT_ENST00000373184.1_Silent_p.F105F|PTPRT_ENST00000373193.3_Silent_p.F105F|PTPRT_ENST00000373190.1_Silent_p.F105F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	105	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTAGTAATGGAAGTCGATGC	0.562000													18	46					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78734856	78734856	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:78734856C>T	ENST00000334082.6	-	5	1946	c.504G>A	c.(502-504)caG>caA	p.Q168Q	HOMER1_ENST00000508576.1_Silent_p.Q168Q|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	168					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GCAATGCATTCTGAGTTGGTT	0.393000													19	98					0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524461	27524461	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:27524461C>A	ENST00000276943.2	+	1	150	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	43					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		AGTCACCTGGCAAAATCTGAG	0.423000													24	91					3.08376e-08	3.1012e-08	1	1	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:62462985C>T	ENST00000430451.2	+	1	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_ENST00000446982.2_Missense_Mutation_p.S83F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000													30	157					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783747	33783747	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:33783747G>A	ENST00000403687.3	+	17	2454	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.E571K|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Missense_Mutation_p.E572K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	572					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCGCAGGATGAGGTGTTTGA	0.498000													28	50					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468246	25468246	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25468246C>T	ENST00000453082.2	+	0	794					NR_003343.1																						GCCTGCTTTTCCTGAGCCAGT	0.612000													6	48					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907734	3907734	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3907734G>A	ENST00000450849.2	+	5	828	c.361G>A	c.(361-363)Gac>Aac	p.D121N	ATCAY_ENST00000600960.1_Missense_Mutation_p.D121N|ATCAY_ENST00000398448.3_Missense_Mutation_p.D127N|ATCAY_ENST00000301260.6_Missense_Mutation_p.D121N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	121					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCTTCTAGACGACACCCCCGT	0.677000													10	31					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452086	74452086	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:74452086A>G	ENST00000394019.2	-	28	3524	c.3127T>C	c.(3127-3129)Ttc>Ctc	p.F1043L	SLC4A5_ENST00000377632.1_Missense_Mutation_p.F962L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F941L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F1059L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F962L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F941L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F1059L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F983S|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1059						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAAAGATGAAATCCAGAAGC	0.468000													28	100					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6765953	6765953	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:6765953G>A	ENST00000341550.4	-	2	95	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	ING4_ENST00000444704.2_Intron|ING4_ENST00000423703.2_Missense_Mutation_p.L17F|ING4_ENST00000396807.4_Missense_Mutation_p.L17F|ING4_ENST00000446105.2_Missense_Mutation_p.L17F|ING4_ENST00000412586.2_Missense_Mutation_p.L17F			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	17					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TCAAAGGGAAGGTTTTCAATA	0.423000													44	65					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226562	56226562	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56226562G>A	ENST00000332836.2	-	6	2387	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	787						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGTCACAGGAGACAGAGGT	0.507000													10	47					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159035459	159035459	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:159035459C>T	ENST00000283233.5	-	12	1733	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.E483K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	474										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGCCACTTCCTTTTTCTCC	0.388000													28	75					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831567	39831567	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:39831567G>A	ENST00000309060.3	-	4	2405	c.1990C>T	c.(1990-1992)Cgg>Tgg	p.R664W	ZHX3_ENST00000540170.1_Missense_Mutation_p.R664W|ZHX3_ENST00000544979.2_Missense_Mutation_p.R664W|ZHX3_ENST00000560361.1_Missense_Mutation_p.R664W|ZHX3_ENST00000559234.1_Missense_Mutation_p.R664W|ZHX3_ENST00000432768.2_Missense_Mutation_p.R664W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	664					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTTTTTTCCGTCTCTCTGAA	0.493000													47	274					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278240	89278240	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:89278240G>A	ENST00000390247.2	-	0	191																											TGGAGACAAAGACAGGGTGGG	0.493000													36	143					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870103	4870103	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4870103G>A	ENST00000322101.2	-	1	411	c.336C>T	c.(334-336)atC>atT	p.I112I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGACATGGATAAAAACCA	0.567000													12	113					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569605	76569605	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76569605G>A	ENST00000307431.8	+	19	3301	c.2916G>A	c.(2914-2916)ggG>ggA	p.G972G	CNTNAP4_ENST00000377504.4_Silent_p.G924G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.G900G|CNTNAP4_ENST00000476707.1_Silent_p.G976G	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	973	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAATGGAGGGAAATGCAGAG	0.498000													5	31					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:57272840C>T	ENST00000537866.1	+	15	2557	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418000													14	67					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131247677	131247677	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:131247677G>A	ENST00000303890.5	+	15	1837	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ODF2_ENST00000372796.4_Missense_Mutation_p.E442K|ODF2_ENST00000372807.5_Missense_Mutation_p.E437K|ODF2_ENST00000372791.3_Missense_Mutation_p.E423K|ODF2_ENST00000448249.3_Missense_Mutation_p.E361K|ODF2_ENST00000546203.1_Missense_Mutation_p.E423K|ODF2_ENST00000444119.2_Missense_Mutation_p.E418K|ODF2_ENST00000351030.3_Missense_Mutation_p.E437K|ODF2_ENST00000393533.2_Missense_Mutation_p.E442K|ODF2_ENST00000372814.3_Missense_Mutation_p.E486K|ODF2_ENST00000434106.2_Missense_Mutation_p.E442K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	442					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATCCACTCTGGAATCCTGGAG	0.502000													6	19					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247692	149247692	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:149247692C>T	ENST00000407073.1	+	12	4789	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	MBD5_ENST00000404807.1_Silent_p.F1497F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1264						chromosome|nucleus	chromatin binding|DNA binding			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)		AGGAAAATTTCAGGTATAATA	0.408000													19	85					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47944165	47944165	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:47944165C>T	ENST00000402813.3	-	8	799	c.656_splice	c.e8-1	p.E219_splice	CNGA1_ENST00000420489.2_Splice_Site_p.E150_splice|CNGA1_ENST00000514170.1_Splice_Site_p.E150_splice|CNGA1_ENST00000544810.1_Splice_Site_p.E150_splice|CNGA1_ENST00000358519.4_Splice_Site_p.E150_splice			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	150					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTTTCTTCTCCCTAGCGGCAA	0.363000													14	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637909	179637909	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179637909C>T	ENST00000589042.1	-	33	8006	c.7782G>A	c.(7780-7782)atG>atA	p.M2594I	TTN_ENST00000342992.6_Missense_Mutation_p.M2594I|TTN_ENST00000591111.1_Missense_Mutation_p.M2594I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M2548I|TTN_ENST00000460472.2_Missense_Mutation_p.M2548I|TTN_ENST00000342175.6_Missense_Mutation_p.M2548I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2328							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCATCATATTTAGAA	0.313000													14	49					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27462185	27462185	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:27462185C>T	ENST00000375946.4	+	9	2863	c.2260C>T	c.(2260-2262)Cat>Tat	p.H754Y	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.H754Y|MASTL_ENST00000375940.4_Missense_Mutation_p.H755Y	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	755	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGGGCCCATGGTAAGGC	0.438000													75	163					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489189	42489189	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42489189G>A	ENST00000545399.1	-	8	1066	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ATP1A3_ENST00000543770.1_Silent_p.L303L|ATP1A3_ENST00000602133.1_Silent_p.L262L|ATP1A3_ENST00000302102.5_Silent_p.L292L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	292					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGACACCCAGGAAGACAGCC	0.587000													7	30					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232324	20232324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:20232324C>T	ENST00000245957.5	+	20	2321	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	C20orf26_ENST00000377293.1_Nonsense_Mutation_p.R105*|C20orf26_ENST00000389656.3_Nonsense_Mutation_p.R105*|C20orf26_ENST00000377309.2_Nonsense_Mutation_p.R105*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	749										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGCATAGACCGAGCAGCCAA	0.542000													33	182					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936631	57936631	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:57936631G>A	ENST00000358697.4	-	1	436	c.224C>T	c.(223-225)gCg>gTg	p.A75V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	75					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGCCTCGGCGCGAACAGGCT	0.761000													4	23					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455039	84455039	+	Missense_Mutation	SNP	G	G	A	rs144169256		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:84455039G>A	ENST00000377084.2	-	1	1489	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	202						integral to membrane		p.P202S(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)		GCAATACCAGGGATTTGCTCC	0.542000													27	74					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15345738	15345738	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:15345738C>T	ENST00000383791.3	-	3	422	c.201_splice	c.e3-1	p.D68_splice	SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	68					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGACGAGCATCCTGCAGCCAG	0.488000													10	82					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55182893	55182893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:55182893G>A	ENST00000337714.3	+	2	301	c.68G>A	c.(67-69)tGg>tAg	p.W23*	AKAP1_ENST00000539273.1_Nonsense_Mutation_p.W23*|AKAP1_ENST00000314126.3_Nonsense_Mutation_p.W23*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.W23*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.W23*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	23					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTCGGCTGGTGGTGGTTTTTC	0.567000													10	59					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99901387	99901387	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:99901387C>T	ENST00000373004.3	+	2	496	c.68C>T	c.(67-69)cCa>cTa	p.P23L	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	23					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCAGTGACACCAACATGGTAT	0.453000													20	133					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105439016	105439016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:105439016G>A	ENST00000264122.4	-	10	1603	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	CBLB_ENST00000394027.3_Missense_Mutation_p.P450S|CBLB_ENST00000403724.1_Missense_Mutation_p.P428S|CBLB_ENST00000405772.1_Missense_Mutation_p.P428S|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	428					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCATCTCTTGGATCAAAGGGG	0.483000			Mis S		AML								18	37					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.A128A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	26					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035824	36035824	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:36035824C>T	ENST00000282507.3	-	7	1649	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G	UGT3A2_ENST00000545528.1_Silent_p.G214G|UGT3A2_ENST00000513300.1_Silent_p.G482G	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	516						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTCTGGCCCCACGCAGCC	0.577000													17	43					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040990	147040990	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:147040990C>T	ENST00000265272.5	-	3	615	c.148G>A	c.(148-150)Gag>Aag	p.E50K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E50K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E8K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	50						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCTTCTCTCTTTCAAGC	0.498000													20	101					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697600	152697600	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:152697600C>A	ENST00000367255.5	-	58	9841	c.9240G>T	c.(9238-9240)ttG>ttT	p.L3080F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L3087F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3080F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3119F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3087F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3080					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCATTAACCAACCACTGCT	0.378000										HNSCC(10;0.0054)			36	71					5.8336e-16	5.89516e-16	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64604452	64604452	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64604452C>T	ENST00000342711.5	-	10	1244	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	415					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTTCCGCTCCAGGGCAGCCC	0.622000													7	51					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306499	2306499	+	Missense_Mutation	SNP	G	G	A	rs151169783		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:2306499G>A	ENST00000290974.2	-	8	1907	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S493L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S453L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	523					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGTGGGCGATTTGGGGTT	0.677000													8	50					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626066	37626066	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:37626066C>T	ENST00000434837.2	-	3	1515	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	MDGA1_ENST00000505425.1_Missense_Mutation_p.G113S|MDGA1_ENST00000297153.7_Missense_Mutation_p.G113S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	113	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCCCCACGCCGTTCTCAGCC	0.662000													20	32					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32949635	32949635	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:32949635C>T	ENST00000399302.2	+	3	398	c.63C>T	c.(61-63)ctC>ctT	p.L21L	QSER1_ENST00000527250.1_Intron|QSER1_ENST00000527788.1_Silent_p.L21L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	21										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAACTACTCTCTTACCACAAT	0.413000													19	95					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443390	78443390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:78443390C>T	ENST00000278550.7	-	21	3571	c.3109G>A	c.(3109-3111)Gag>Aag	p.E1037K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGGCCTTTCTCTGCACAGGAG	0.527000													30	45					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409047	4409047	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4409047G>A	ENST00000261254.3	+	5	1011	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	248					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGCTTGCCAGGAGCAGATTGA	0.517000			T	IGL@	"""NHL,CLL"""								9	91					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691348	90691348	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:90691348G>C	ENST00000312600.3	+	2	986	c.772G>C	c.(772-774)Gac>Cac	p.D258H	PABPC5_ENST00000373105.1_Missense_Mutation_p.D94H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	258	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGCTGTGCTAGACTTGCATGG	0.463000													22	94					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606747	21606747	+	Missense_Mutation	SNP	G	G	A	rs143136118		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:21606747G>A	ENST00000392288.2	+	4	1395	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G301E	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338000													8	50					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293060	130293060	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130293060G>A	ENST00000358511.6	+	7	3269	c.3238G>A	c.(3238-3240)Ggt>Agt	p.G1080S	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1080S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1080	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.G1080S(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						CACACACATCGGTGCTGCACT	0.473000													31	88					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890456	215890456	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:215890456G>A	ENST00000272895.7	-	11	1447	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.L92F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	410					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATTGCGAAGAAAAGATTTT	0.323000													10	54					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307608	39307608	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:39307608G>A	ENST00000541347.1	-	2	632	c.393C>T	c.(391-393)atC>atT	p.I131I	CX3CR1_ENST00000542107.1_Silent_p.I131I|CX3CR1_ENST00000399220.2_Silent_p.I131I|CX3CR1_ENST00000358309.3_Silent_p.I163I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	131					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGGCCAGGACGATGGCCAGGT	0.537000													58	122					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096619	107096619	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:107096619G>A	ENST00000261058.1	+	1	432	c.185G>A	c.(184-186)gGa>gAa	p.G62E		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	62										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTTATGACGGAAAAATGAAT	0.368000													38	151					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228401903	228401903	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228401903G>C	ENST00000570156.2	+	4	1361	c.1287G>C	c.(1285-1287)aaG>aaC	p.K429N	OBSCN_ENST00000284548.11_Missense_Mutation_p.K429N|OBSCN_ENST00000422127.1_Missense_Mutation_p.K429N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	429	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCTCGGAAGACGGCGGTGC	0.701000													26	128					0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288233	36288233	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:36288233C>T	ENST00000539424.1	+	2	1744	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R107W|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R107W|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R107W			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	107						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						CATGAACATCCGGGGCCCGAT	0.552000													44	657					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8206851	8206851	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8206851G>A	ENST00000600128.1	-	7	1126	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	FBN3_ENST00000601739.1_Missense_Mutation_p.P238S|FBN3_ENST00000270509.2_Missense_Mutation_p.P238S			Q75N90	FBN3_HUMAN	fibrillin 3	238						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGATATTGGGGATGAAGCCG	0.632000													15	46					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558793	228558793	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228558793G>A	ENST00000570156.2	+	105	23259	c.23185G>A	c.(23185-23187)Gac>Aac	p.D7729N	OBSCN_ENST00000366707.4_Missense_Mutation_p.D4406N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D6772N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6772	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCACCCGACAGCCCCTC	0.662000													9	34					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37475402	37475402	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:37475402G>A	ENST00000002125.4	+	10	1275	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R314K	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		CCTCATCAGAGACTTCAAGGT	0.423000													47	115					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575771	12575771	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:12575771G>A	ENST00000397732.3	-	4	1136	c.965C>T	c.(964-966)tCc>tTc	p.S322F	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.S322F	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTTCTAAAGGAACTAGGAAA	0.373000													14	72					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464105	50464105	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:50464105C>T	ENST00000404971.1	-	19	4827	c.3488G>A	c.(3487-3489)gGg>gAg	p.G1163E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G1123E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1115E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1123E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.G141E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1115E|NRXN1_ENST00000342183.5_Missense_Mutation_p.G88E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1123E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1123	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			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)			ATATGTCGTCCCAGCTGGAAA	0.403000													27	92					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310490	26310490	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:26310490C>T	ENST00000265944.5	+	8	810	c.644C>T	c.(643-645)tCc>tTc	p.S215F	MYO3A_ENST00000376302.1_Missense_Mutation_p.S215F|MYO3A_ENST00000543632.1_Missense_Mutation_p.S215F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	215	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACACTTGGTCCCTGGGTATC	0.458000													24	94					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33372990	33372990	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:33372990C>T	ENST00000428849.2	+	7	1568	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	373	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CATGATTTTTCCTTTGACCGG	0.582000													27	195					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168409	142168409	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142168409G>A	ENST00000454561.2	-	0	514																											ATACAGGGCCGAGTCGTCCAG	0.512000													16	185					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757303	757303	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:757303G>A	ENST00000215582.6	+	2	460	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGGAGGACAAGGAGATGAAGA	0.667000													6	34					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123556195	123556195	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:123556195C>T	ENST00000422452.2	-	24	4461	c.4398G>A	c.(4396-4398)ggG>ggA	p.G1466G	TENM1_ENST00000371130.3_Silent_p.G1459G|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTAGATCTCCCCATTGGTGG	0.493000													21	126					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887986	60887986	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:60887986G>A	ENST00000252999.3	-	66	9102	c.9036C>T	c.(9034-9036)gtC>gtT	p.V3012V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3012	Laminin G-like 2.				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			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)	GCTGCAGTGGGACGGCCTTTT	0.657000													22	42					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88726698	88726698	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:88726698G>A	ENST00000394480.1	-	5	667	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	NTRK3_ENST00000355254.2_Missense_Mutation_p.R116W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R116W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R116W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R116W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R116W|NTRK3_ENST00000558676.1_Missense_Mutation_p.R116W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R116W|NTRK3_ENST00000542733.2_Missense_Mutation_p.R18W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	116					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAATGCTCCGAAGTCCTGAG	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			59	124					0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216923647	216923647	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:216923647G>A	ENST00000265322.7	-	4	551	c.477C>T	c.(475-477)gtC>gtT	p.V159V	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	159					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CTTTAGTAGGGACAATGATAT	0.378000													20	71					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28857331	28857331	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:28857331G>A	ENST00000313511.3	-	2	287	c.149C>T	c.(148-150)gCc>gTc	p.A50V		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	47						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AGTCTTCTTGGCCTCCACGGC	0.637000													13	54					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696946	99696946	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99696946G>A	ENST00000303887.5	-	4	1002	c.357C>T	c.(355-357)gtC>gtT	p.V119V	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.V119V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	119					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GGGGGCTTCGGACCATCCCAG	0.498000													31	215					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40116370	40116370	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:40116370G>A	ENST00000373233.3	-	14	2113	c.1936C>T	c.(1936-1938)Cca>Tca	p.P646S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	646	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			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)				AACTGTGATGGCTCCAGAAAA	0.438000													16	129					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567248	45567248	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:45567248G>A	ENST00000588982.1	-	3	732	c.231C>T	c.(229-231)atC>atT	p.I77I	ZBTB7C_ENST00000586438.1_Silent_p.I77I|ZBTB7C_ENST00000332053.2_Silent_p.I77I|ZBTB7C_ENST00000535628.2_Silent_p.I77I|ZBTB7C_ENST00000590800.1_Silent_p.I77I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	77	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGACAAAGTCGATCTCATAGA	0.582000													9	35					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543667	141543667	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:141543667G>A	ENST00000442267.2	-	21	3557	c.3483C>T	c.(3481-3483)tcC>tcT	p.S1161S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1161						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGAGGACATGGAGCTGTCGT	0.632000													18	91					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124975	160124975	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160124975C>T	ENST00000368081.4	+	3	819	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	116					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			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)			GGACTGGGGCCATTCTCTGCT	0.507000													43	35					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255925	137255925	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:137255925G>A	ENST00000453654.1	-	19	1582	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	DGKI_ENST00000288490.5_Missense_Mutation_p.S648F|DGKI_ENST00000424189.2_Missense_Mutation_p.S648F|DGKI_ENST00000446122.1_Missense_Mutation_p.S648F			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	648					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTCACCAAAGAGGCCATGGT	0.378000													7	71					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43108268	43108268	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:43108268C>T	ENST00000428554.2	+	19	2906	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CCDC30_ENST00000342022.4_Missense_Mutation_p.S588F|CCDC30_ENST00000340612.4_Missense_Mutation_p.S588F|CCDC30_ENST00000390640.4_Missense_Mutation_p.S377F|CCDC30_ENST00000507855.1_Missense_Mutation_p.S377F			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	588										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACGATATCTTCCATCCAGAGC	0.458000													126	105					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832996	130832996	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:130832996C>T	ENST00000357462.5	-	15	2142	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Silent_p.V683V|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	683						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCTTTTTTTCACACTTTCAA	0.413000													17	53					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207395	49207395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:49207395G>A	ENST00000340334.7	-	7	975	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	FOLH1_ENST00000533034.1_Nonsense_Mutation_p.Q203*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.Q218*|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.Q218*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	218					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTGCCAGCTGGGCATTTTTA	0.423000													12	57					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16286769	16286769	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:16286769G>A	ENST00000205557.7	-	11	1378	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	450	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GAGGGCGGAGGGCCCCAGGAG	0.562000													8	37					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138023745	138023745	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:138023745G>A	ENST00000383180.2	-	10	815	c.578C>T	c.(577-579)cCc>cTc	p.P193L	NME9_ENST00000341790.5_Missense_Mutation_p.P191L|NME9_ENST00000333911.3_Missense_Mutation_p.P254L|NME9_ENST00000317876.4_Missense_Mutation_p.P193L|NME9_ENST00000484930.1_Missense_Mutation_p.P191L|NME9_ENST00000536478.1_Missense_Mutation_p.P193L	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	254	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCCACATTGGGGTCACGGGG	0.592000													79	132					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080596	42080596	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:42080596C>T	ENST00000400454.1	-	2	622	c.145G>A	c.(145-147)Gca>Aca	p.A49T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	49	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGATGCCTGCTGCGGGGCAG	0.592000													28	171					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538502	152538502	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:152538502G>A	ENST00000368789.1	-	2	238	c.183C>T	c.(181-183)caC>caT	p.H61H		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	61					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GCCGGCATCGGTGGTGGCGCC	0.677000													85	73					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783821	10783821	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:10783821C>G	ENST00000075503.3	-	5	794	c.274G>C	c.(274-276)Gtg>Ctg	p.V92L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	92						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AAGTTTTCCACGGATGTCTCC	0.547000										HNSCC(73;0.22)			18	120					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121023744	121023744	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:121023744C>T	ENST00000392793.1	+	13	4531	c.4260C>T	c.(4258-4260)atC>atT	p.I1420I	TECTA_ENST00000264037.2_Silent_p.I1420I			O75443	TECTA_HUMAN	tectorin alpha	1420	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGCTGCATCCTGCCCCACA	0.612000													6	22					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122278351	122278351	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:122278351C>T	ENST00000398250.1	+	4	615	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S88F|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S78F|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	88					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTAGCGGTGTCCTTGGCTCTT	0.358000													16	97					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32030149	32030149	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:32030149G>A	ENST00000375244.3	-	20	7154	c.6953C>T	c.(6952-6954)tCc>tTc	p.S2318F	TNXB_ENST00000375247.2_Missense_Mutation_p.S2318F			P22105	TENX_HUMAN	tenascin XB	2380	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTGAGGGAGTCAGGGGT	0.617000													6	29					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23522723	23522723	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:23522723G>A	ENST00000397359.3	-	7	1467	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CDH24_ENST00000267383.5_Missense_Mutation_p.S403F|CDH24_ENST00000554034.1_Missense_Mutation_p.S403F|CDH24_ENST00000487137.2_Missense_Mutation_p.S403F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	403	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCTGGCAGGGGAGTCCAGGTC	0.632000													6	26					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968370	28968370	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28968370G>A	ENST00000359747.4	+	4	286	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R86Q|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	86	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			ATAACATACCGGATTTCTGGA	0.403000													9	57					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766812	17766812	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17766812G>A	ENST00000428389.2	-	11	1426	c.1427C>T	c.(1426-1428)gCc>gTc	p.A476V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A388V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A388V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A388V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A388V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A388V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	388					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGCCACTGGGGCCTTGTCCTC	0.657000													4	6					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111865791	111865791	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:111865791C>T	ENST00000440460.2	+	16	1780	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.P284S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	496					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TTTTCTCCTTCCAACGGCAGG	0.468000													37	286					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959221	70959221	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:70959221C>T	ENST00000322954.6	-	16	3987	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	UACA_ENST00000539319.1_Missense_Mutation_p.E1159K|UACA_ENST00000379983.2_Missense_Mutation_p.E1255K|UACA_ENST00000560441.1_Missense_Mutation_p.E1253K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1268						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCAGATATTTCCTTCTTTTTG	0.353000													39	103					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153690570	153690570	+	Missense_Mutation	SNP	G	G	A	rs36115591	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153690570G>A	ENST00000369682.3	+	4	1412	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	413	Sema.		G -> S (in dbSNP:rs36115591).		axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCACCGACGGCATGGCCAG	0.652000													14	90					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332146	107332146	+	Missense_Mutation	SNP	G	G	A	rs150858980		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107332146G>A	ENST00000335040.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233E(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACTGAAGGAAAACATAAG	0.418000													15	84					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932388	79932388	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79932388C>T	ENST00000373275.4	-	41	5345	c.5129G>A	c.(5128-5130)gGg>gAg	p.G1710E		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1710	Gly-rich.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						tcctcctctccctcttcccct	0.542000													15	80					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140424	139140424	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:139140424C>T	ENST00000280612.5	-	5	1021	c.742G>A	c.(742-744)Ggc>Agc	p.G248S		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	248					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACTTACCAGCCAGCATATGCA	0.428000													8	102					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67877153	67877153	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67877153A>G	ENST00000303596.1	+	1	941	c.696A>G	c.(694-696)gtA>gtG	p.V232V	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGTGGTGGTAGGGGAAGAGG	0.667000													73	165					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890408	70890408	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:70890408G>A	ENST00000322773.4	+	44	2870	c.2768G>A	c.(2767-2769)gGa>gAa	p.G923E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G545E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	923	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCCTCAGGAAAGCCAGTA	0.398000													9	68					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39867422	39867422	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:39867422C>T	ENST00000314471.6	+	9	2130	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	SAMD4B_ENST00000598913.1_Silent_p.S365S|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	365	SAM.						protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAGTCCCTAGAGAAGG	0.572000													8	43					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815907	56815907	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:56815907G>A	ENST00000229201.4	-	20	2658	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A836V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	836					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GTCCTTATTGGCGAGGTACAG	0.537000													29	104					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770200	38770200	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38770200C>T	ENST00000449082.2	-	15	2472	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	825					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCCAGTCTTCATGGGGCGCG	0.512000													21	91					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30873201	30873201	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:30873201C>T	ENST00000383096.3	-	12	1280	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	CCDC178_ENST00000583930.1_Silent_p.E366E|CCDC178_ENST00000403303.1_Silent_p.E366E|CCDC178_ENST00000406524.2_Silent_p.E366E|CCDC178_ENST00000579947.1_Silent_p.E366E|CCDC178_ENST00000300227.8_Silent_p.E366E|CCDC178_ENST00000402325.1_Silent_p.E366E|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		CTTCCTTCTCCTCAATATTAG	0.294000													4	20					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661532	39661532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39661532C>T	ENST00000246635.3	-	1	317	c.271G>A	c.(271-273)Gac>Aac	p.D91N	KRT13_ENST00000587544.1_Missense_Mutation_p.D91N|KRT13_ENST00000336861.3_Missense_Mutation_p.D91N	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	91	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				gcaccaaagtcaacaaagcca	0.582000													10	64					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366075	123366075	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:123366075C>T	ENST00000360772.3	-	28	4993	c.4615G>A	c.(4615-4617)Gag>Aag	p.E1539K	MYLK_ENST00000475616.1_Missense_Mutation_p.E1539K|MYLK_ENST00000360304.3_Missense_Mutation_p.E1539K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1470K|MYLK_ENST00000359169.1_Missense_Mutation_p.E1539K|MYLK_ENST00000354792.5_Missense_Mutation_p.E339K			Q15746	MYLK_HUMAN	myosin light chain kinase	1539	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCACATCTCCAGGACCATG	0.587000													5	56					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424276	69424276	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:69424276C>T	ENST00000333026.3	+	6	869	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	257					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CAAAAAAATCCTGGGACTAAA	0.493000													6	66					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506525	10506525	+	Missense_Mutation	SNP	G	G	A	rs145610067		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:10506525G>A	ENST00000444303.2	+	4	743	c.271G>A	c.(271-273)Gac>Aac	p.D91N	AMPD3_ENST00000396554.3_Missense_Mutation_p.D259N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	250					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACCCTACCCCGACCTGGAGAC	0.577000													8	54					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139789	40139789	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:40139789A>G	ENST00000325157.6	-	7	1969	c.1719T>C	c.(1717-1719)ctT>ctC	p.L573L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	573										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGATGACATTAAGTTCTTGGA	0.428000													20	80					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600879	41600879	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:41600879C>T	ENST00000330436.3	+	8	1177	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	393					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGAAGTGTTCCCTATGCTGGG	0.572000													25	141					0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459613	101459613	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:101459613G>A	ENST00000363219.1	+	0	41					NR_003224.1																						AGTCATGGAGGATGAATACTA	0.363000													24	125					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500130	220500130	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:220500130C>T	ENST00000358055.3	+	13	2396	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	SLC4A3_ENST00000373762.3_Silent_p.F655F|SLC4A3_ENST00000273063.6_Silent_p.F655F|SLC4A3_ENST00000373760.2_Silent_p.F628F|SLC4A3_ENST00000317151.3_Silent_p.F628F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	628					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTGCTTTCCAGCGAGAGC	0.617000													24	71					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	15					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475216	31475216	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31475216C>T	ENST00000252229.6	+	5	1011	c.932C>T	c.(931-933)cCa>cTa	p.P311L	MICB_ENST00000538442.1_Missense_Mutation_p.P279L|MICB_ENST00000399150.3_Missense_Mutation_p.P268L	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	311					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACAGACTTTCCATATGTTTCT	0.463000													14	82					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281920	125281920	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125281920C>T	ENST00000340750.1	+	1	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCCAGCTGTCCTTTTGTGCTG	0.493000													22	65					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196871568	196871568	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:196871568C>G	ENST00000367416.2	+	2	213	c.76C>G	c.(76-78)Cca>Gca	p.P26A	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P27A	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGATTTTCCAGAAATTCA	0.279000													50	71					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38874114	38874114	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:38874114C>T	ENST00000359357.3	+	61	8882	c.8628C>T	c.(8626-8628)atC>atT	p.I2876I	DNAH8_ENST00000449981.2_Silent_p.I3093I|DNAH8_ENST00000441566.1_Silent_p.I2840I					dynein, axonemal, heavy chain 8											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						TCACTTTCATCTTTACTGACA	0.353000													21	16					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126710399	126710399	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:126710399G>A	ENST00000393409.2	+	2	1367	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R433H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	456	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAAGTGGCCGCATCCGCAAG	0.677000													5	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582476	179582476	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179582476G>A	ENST00000589042.1	-	87	25349	c.25125C>T	c.(25123-25125)ttC>ttT	p.F8375F	TTN_ENST00000342992.6_Silent_p.F7131F|TTN_ENST00000591111.1_Silent_p.F8058F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8058	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCAACTGGGAAGCCTAGAG	0.418000													14	47					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111141831	111141831	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:111141831G>A	ENST00000360467.5	+	35	3553	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1083	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGTATGGCGAGATTGGCGC	0.512000													15	129					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31827644	31827644	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31827644G>A	ENST00000375631.4	-	6	1229	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	367						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	ATAGCCACTGGGGCCTGGCCA	0.597000													48	109					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297379	28297379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28297379G>A	ENST00000414429.1	-	6	985	c.82C>T	c.(82-84)Cga>Tga	p.R28*	ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Nonsense_Mutation_p.R28*|ZSCAN31_ENST00000396838.2_Nonsense_Mutation_p.R28*|ZSCAN31_ENST00000439158.1_Nonsense_Mutation_p.R28*					zinc finger and SCAN domain containing 31																		TTGTTCCCTCGAAGGTGGGTT	0.498000													87	106					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258333	56258333	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:56258333C>T	ENST00000327216.2	-	1	538	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTAATTTCATTGGGGCCA	0.498000													18	113					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393405	56393405	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:56393405C>T	ENST00000355701.3	-	16	2947	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	BZRAP1_ENST00000343736.4_Missense_Mutation_p.D693N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D633N	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	693	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCCTCATCCATGTTGCCA	0.507000													50	93					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108809	75108809	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:75108809C>T	ENST00000309664.5	+	3	511	c.372C>T	c.(370-372)gtC>gtT	p.V124V	LMAN1L_ENST00000379709.3_Silent_p.V124V	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	124	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGCTCTGTCCTTGGGGGGC	0.667000													36	105					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132788	161132788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:161132788C>T	ENST00000368002.3	+	7	1350	c.973C>T	c.(973-975)Cca>Tca	p.P325S	USP21_ENST00000368001.1_Missense_Mutation_p.P325S|USP21_ENST00000289865.8_Missense_Mutation_p.P325S|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	325					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGCCGGGCTCCACCGATACT	0.582000													76	77					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721186	88721186	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:88721186A>G	ENST00000301012.3	-	8	956	c.927T>C	c.(925-927)aaT>aaC	p.N309N		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	309					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGATCACGGCATTGGGGCCCG	0.612000													5	41					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129198697	129198697	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:129198697C>T	ENST00000296266.3	+	14	1765	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	IFT122_ENST00000440957.2_Missense_Mutation_p.R265C|IFT122_ENST00000348417.2_Missense_Mutation_p.R474C|IFT122_ENST00000504021.1_Missense_Mutation_p.R368C|IFT122_ENST00000347300.2_Missense_Mutation_p.R415C|IFT122_ENST00000507564.1_Missense_Mutation_p.R466C|IFT122_ENST00000431818.2_Missense_Mutation_p.R324C|IFT122_ENST00000349441.2_Missense_Mutation_p.R363C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	474					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTCTCTCATTCGTTACATCAA	0.562000													16	101					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114410	57114410	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57114410G>A	ENST00000454682.1	-	3	1185	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P302S|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGAAATGGGAAAATCTGGG	0.488000			T	BCL6	NHL								24	51					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264460	155264460	+	Missense_Mutation	SNP	C	C	T	rs140575553		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:155264460C>T	ENST00000392414.3	-	6	798	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PKLR_ENST00000342741.4_Missense_Mutation_p.D260N	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	260					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCGGGCAAGTCCACCTGGGCC	0.657000													28	30					0	0	1	0	0
AC010731.4	0	broad.mit.edu	37	2	207509254	207509254	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:207509254C>T	ENST00000543490.1	+	0	469																											CCCAACTCTTCTGGGACATCT	0.483000													15	50					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238694	26238694	+	RNA	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:26238694T>A	ENST00000519902.1	-	0	1254																											CAATACAGTATGATTACAGGA	0.378000													20	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595650	179595650	+	Splice_Site	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179595650A>G	ENST00000589042.1	-	60	17965		c.e60+1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATACCAACCTAATACAT	0.338000													61	271					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934677	77934677	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:77934677C>A	ENST00000361507.4	-	6	1433	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	GAB2_ENST00000340149.2_Missense_Mutation_p.D412Y	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	450					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ACATAGTTGTCTTCAGAATTG	0.502000													53	561					9.59835e-30	9.7471e-30	1	1	0
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567000													26	116					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008979	184008979	+	Silent	SNP	G	G	A	rs114388448	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:184008979G>A	ENST00000402825.3	+	17	2340	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E	ECE2_ENST00000359140.4_Silent_p.E633E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.E708E|ECE2_ENST00000404464.3_Silent_p.E662E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	780	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTGGGGGAGAACATTGCTG	0.632000													31	78					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45540978	45540978	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:45540978C>T	ENST00000291576.7	+	13	1758	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	544						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCCCTGACCTCTGATGGTGAG	0.612000													13	27					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713826	19713826	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:19713826C>T	ENST00000397821.3	-	5	714	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105R|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142R	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	142	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCAGTCTTCCCGTTGAGAACA	0.473000													27	125					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134107411	134107411	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:134107411C>T	ENST00000220616.4	+	42	7403	c.7363C>T	c.(7363-7365)Cgc>Tgc	p.R2455C	SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.R588C|TG_ENST00000377869.1_Missense_Mutation_p.R2398C|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Missense_Mutation_p.R825C|SLA_ENST00000524345.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2455			R -> H (in dbSNP:rs2272707).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCCTGCCTCCGCCAGAAGCC	0.522000													25	166					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343000			"""N, S, F"""		hepatocellular carcinoma								21	38					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108396404	108396404	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:108396404C>T	ENST00000361582.3	+	26	3072	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	DZIP3_ENST00000463306.1_Missense_Mutation_p.P948S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	948					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TACCTTGCCTCCAGTCCAGCT	0.393000													78	286					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022871	76022871	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:76022871T>C	ENST00000393004.2	-	5	2898	c.2677A>G	c.(2677-2679)Agt>Ggt	p.S893G	FILIP1_ENST00000237172.7_Missense_Mutation_p.S893G|FILIP1_ENST00000370020.1_Missense_Mutation_p.S794G|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	893										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCCCTGGACTGGAATTTGTT	0.532000													32	120					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981719	92981719	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:92981719C>T	ENST00000268164.3	+	4	664	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L122F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	143					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTACGAGCTCCTCCCCAGGAC	0.517000													55	144					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936761	151936761	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:151936761G>A	ENST00000367290.5	+	10	2004	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	CCDC170_ENST00000239374.7_Missense_Mutation_p.E632K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	632																	GGTAACCAGTGAAATGAAGAC	0.403000													49	99					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82333695	82333695	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:82333695G>A	ENST00000376520.4	+	16	2323	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	TLE4_ENST00000376544.3_Missense_Mutation_p.D398N|TLE4_ENST00000376537.4_Missense_Mutation_p.D499N|TLE4_ENST00000376534.4_Missense_Mutation_p.D104N|TLE4_ENST00000376552.2_Missense_Mutation_p.D467N|TLE4_ENST00000265284.6_Missense_Mutation_p.D442N			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTTCCACCCGACGCCCTCAT	0.562000													14	80					0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15646186	15646186	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:15646186C>T	ENST00000380342.3	-	6	832	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	193					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					ATGCCATTTTCAATTGTGATC	0.438000													21	46					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945447	4945447	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4945447G>A	ENST00000321961.2	-	1	190	c.123C>T	c.(121-123)atC>atT	p.I41I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCCCCAAGATAACTGTCA	0.502000													23	52					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721311	150721311	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150721311G>A	ENST00000605938.1	-	1	275	c.200C>T	c.(199-201)tCc>tTc	p.S67F	ATG9B_ENST00000605952.1_Missense_Mutation_p.S67F|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.S67F	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	67	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGGAGGGGAAAATGAGGA	0.632000													3	21					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145636515	145636515	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:145636515C>T	ENST00000296575.3	+	10	2266	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	537						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CACTCTGTCTCGGCACTAGTG	0.418000													18	103					0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66169674	66169674	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:66169674C>T	ENST00000261890.2	+	2	173	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RAB11A_ENST00000569896.1_Silent_p.V15V|RAB11A_ENST00000564910.1_Silent_p.V15V|RAB11A_ENST00000435304.2_Silent_p.V15V|RAB11A_ENST00000565075.1_Silent_p.V15V	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	15					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTCCAGTTGTCCTTATTGGAG	0.383000													7	25					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1480265	1480265	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:1480265C>T	ENST00000297508.7	-	8	1942	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	MICALL2_ENST00000405088.4_Silent_p.A377A	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	589						cytoplasm|cytoskeleton	zinc ion binding			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)		GCTTCAGATTCGCTCTCCATC	0.622000													15	70					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621299	8621299	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:8621299C>T	ENST00000429646.2	+	9	3531	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CPZ_ENST00000315782.6_Silent_p.F627F|CPZ_ENST00000360986.4_Silent_p.F638F|CPZ_ENST00000382480.2_Silent_p.F501F			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	638					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTCCTACTTCACATCGCTGA	0.701000													7	35					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202888910	202888910	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:202888910G>A	ENST00000367261.3	-	3	540	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLHL12_ENST00000435533.3_Missense_Mutation_p.P146S	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	108					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGGCTGCAGGAAGCAGTTCT	0.383000													29	80					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509365	65509365	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:65509365C>T	ENST00000310193.3	-	6	1528	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	452					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAAAAATCGGCCTGGACA	0.343000													9	64					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332054	107332054	+	Silent	SNP	G	G	A	rs146773946		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107332054G>A	ENST00000335040.1	+	1	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGACAGGGTCGAATCTGATTG	0.348000													49	95					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52684496	52684496	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:52684496A>G	ENST00000355568.4	-	7	586	c.447T>C	c.(445-447)ggT>ggC	p.G149G		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	149	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTTGCTATACCAAAGTCCC	0.318000													29	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485285	179485285	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179485285G>A	ENST00000589042.1	-	248	46187	c.45963C>T	c.(45961-45963)ttC>ttT	p.F15321F	TTN_ENST00000342992.6_Silent_p.F12753F|TTN_ENST00000591111.1_Silent_p.F13680F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.F6381F|TTN_ENST00000460472.2_Silent_p.F6256F|TTN_ENST00000342175.6_Silent_p.F6448F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13680	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGCACCAGAATGTGACAG	0.373000													10	76					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349481	89349481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:89349481C>A	ENST00000301030.4	-	9	3929	c.3469G>T	c.(3469-3471)Gag>Tag	p.E1157*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1157*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1157	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATAGGCCTCCCGTCCTTCC	0.617000													24	181					5.35356e-11	5.39254e-11	1	1	0
ERV3-1	2086	broad.mit.edu	37	7	64452419	64452419	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:64452419G>A	ENST00000394323.2	-	2	1486	c.986C>T	c.(985-987)tCa>tTa	p.S329L		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		329						virion		p.S329*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gctctgacttgatggtgcagg	0.478000													16	80					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38066101	38066101	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38066101G>A	ENST00000394175.2	-	3	707	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	GSDMB_ENST00000520542.1_Silent_p.L162L|GSDMB_ENST00000309481.7_Silent_p.L162L|GSDMB_ENST00000360317.3_Silent_p.L162L|GSDMB_ENST00000394179.1_Silent_p.L162L|GSDMB_ENST00000418519.1_Silent_p.L162L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	162						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACCGTCTCCAGAGTTTCTGTC	0.453000													14	103					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118870	95118870	+	Missense_Mutation	SNP	C	C	T	rs80350829	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:95118870C>T	ENST00000377028.5	-	3	1051	c.638G>A	c.(637-639)gGa>gAa	p.G213E	DCT_ENST00000446125.1_Missense_Mutation_p.G213E|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	213					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAATGCAGGTCCTTGATGTGA	0.373000													13	60					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552705	39552705	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39552705C>T	ENST00000251645.2	-	3	607	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	185	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGAGCAGCTCCTCCTTCAGGG	0.562000													20	47					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43591931	43591931	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:43591931G>A	ENST00000395891.1	+	28	5111	c.4506G>A	c.(4504-4506)cgG>cgA	p.R1502R	HECW1_ENST00000453890.1_Silent_p.R1468R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1502	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1481R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGAGTACCGGGGAGGTGAGT	0.478000													6	88					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80975499	80975499	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:80975499C>T	ENST00000403729.2	-	7	1088	c.563G>A	c.(562-564)aGa>aAa	p.R188K	ANTXR2_ENST00000295465.4_Missense_Mutation_p.R188K|ANTXR2_ENST00000404191.1_Missense_Mutation_p.R111K|ANTXR2_ENST00000346652.6_Missense_Mutation_p.R188K|ANTXR2_ENST00000307333.7_Missense_Mutation_p.R188K	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	188	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ATCAGCAATTCTTTCAAGCTT	0.368000									Juvenile Hyaline Fibromatosis				31	67					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191208	6191208	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:6191208G>A	ENST00000530810.1	-	1	430	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTAACAGGATAGCTGAC	0.493000													11	95					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905426	905426	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:905426C>T	ENST00000579794.1	+	1	317	c.39C>T	c.(37-39)gtC>gtT	p.V13V	ADCYAP1_ENST00000450565.3_Silent_p.V13V|RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	13					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.V13V(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCCTGCTGGTCTATGGGATAA	0.637000													16	114					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078759	27078759	+	Silent	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:27078759A>C	ENST00000263182.3	+	4	599	c.231A>C	c.(229-231)acA>acC	p.T77T	BBOX1_ENST00000528583.1_Silent_p.T77T|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Silent_p.T77T|BBOX1_ENST00000525090.1_Silent_p.T77T|RP11-1L12.3_ENST00000526061.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	77					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGTACATCACATGGCCCGATG	0.388000													18	92					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47306864	47306864	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:47306864G>C	ENST00000377065.4	-	5	2944	c.2305C>G	c.(2305-2307)Cat>Gat	p.H769D	ZNF41_ENST00000313116.7_Missense_Mutation_p.H769D|ZNF41_ENST00000397050.2_Missense_Mutation_p.H779D	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	811						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCACTATGCATTTTCTGG	0.403000													50	104					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601986	135601986	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:135601986C>T	ENST00000513104.1	-	5	1549	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	TRPC7_ENST00000355180.3_Missense_Mutation_p.D362N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D307N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	423					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			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)			TTTGGGTAGTCTGTGAAGGTT	0.393000													21	113					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457953	45457953	+	RNA	SNP	C	C	T	rs141588874	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:45457953C>T	ENST00000548424.1	+	0	448																											AGGAATTTCTCTTTCAGCTTT	0.428000													23	86					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75692404	75692404	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:75692404G>A	ENST00000394947.3	-	12	2145	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	SIN3A_ENST00000360439.4_Missense_Mutation_p.R611C|SIN3A_ENST00000394949.4_Missense_Mutation_p.R611C	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	611	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.R611G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTTCACAACGATAAATATGT	0.438000													28	207					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611495	37611495	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:37611495G>A	ENST00000276461.5	+	12	949	c.882G>A	c.(880-882)aaG>aaA	p.K294K	ERLIN2_ENST00000519638.1_Silent_p.K294K	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	294	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCAACAGCAAGATTTACTTTG	0.428000													30	68					0	0	1	0	0
NUTM2A	728118	broad.mit.edu	37	10	88994203	88994203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:88994203G>A	ENST00000381707.2	+	7	2758	c.2375G>A	c.(2374-2376)tGg>tAg	p.W792*	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron	NM_001099338.1	NP_001092808.1			NUT family member 2A																		CCAGAAAAGTGGGGACCCCAG	0.602000													7	36					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994771	994771	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:994771C>T	ENST00000537687.1	+	19	6224	c.5581C>T	c.(5581-5583)Cca>Tca	p.P1861S	WNK1_ENST00000535572.1_Missense_Mutation_p.P1354S|WNK1_ENST00000530271.2_Missense_Mutation_p.P2099S|WNK1_ENST00000340908.4_Missense_Mutation_p.P1194S|WNK1_ENST00000315939.6_Missense_Mutation_p.P1601S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1601					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTAGTATCCCACCCTTGGT	0.488000													41	251					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380613	147380613	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:147380613C>T	ENST00000240986.4	+	2	584	c.531C>T	c.(529-531)atC>atT	p.I177I	GJA8_ENST00000369235.1_Silent_p.I177I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	177					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGTTCCGGATCCTGCCTCTGT	0.577000													72	85					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692178	116692178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:116692178C>T	ENST00000357780.3	-	3	710	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGTAAGGCGTCCCTTGAGCTC	0.632000													49	334					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434032	72434032	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72434032G>A	ENST00000373517.3	-	1	652	c.297C>T	c.(295-297)gaC>gaT	p.D99D	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	99					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTTCAACAAAGTCTGTATCTA	0.443000													47	95					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617353	182617353	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:182617353C>T	ENST00000483095.2	-	6	536	c.279G>A	c.(277-279)aaG>aaA	p.K93K	RGS8_ENST00000367557.4_Silent_p.K93K|RGS8_ENST00000367556.1_Silent_p.K93K|RGS8_ENST00000258302.4_Silent_p.K111K			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	93	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						ACCTGGTCTTCTTGAACTCCT	0.552000													247	178					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688795	8688795	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:8688795G>A	ENST00000299663.3	-	5	544	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Missense_Mutation_p.L82F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	127	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTGTAGGAAAGGAATTCCTAT	0.368000													12	65					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368527	111368527	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:111368527G>A	ENST00000428084.1	-	53	6003	c.5731C>T	c.(5731-5733)Ccg>Tcg	p.P1911S	DOCK4_ENST00000437633.1_Missense_Mutation_p.P1902S|DOCK4_ENST00000494651.2_Missense_Mutation_p.P785S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1902	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACGCTGTACGGGGGCGGAGTC	0.721000													36	45					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074772	185074772	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:185074772C>T	ENST00000296741.2	-	2	497	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	119					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGTTCTGATCCATTCCACCA	0.493000													7	71					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137650103	137650103	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:137650103C>T	ENST00000371817.3	+	18	2310	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	632	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCGGGGTTTCGACGGCCTGG	0.627000													15	76					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485349	14485349	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:14485349C>T	ENST00000454876.2	+	3	536	c.207C>T	c.(205-207)taC>taT	p.Y69Y	SLC6A6_ENST00000416216.2_Silent_p.Y69Y|SLC6A6_ENST00000360861.3_Silent_p.Y69Y|SLC6A6_ENST00000484191.1_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	69					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GCTTCCCGTACCTCTGCTACA	0.612000													18	74					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163288	141163288	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:141163288C>T	ENST00000514251.1	+	4	2337	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	ZBTB38_ENST00000441582.2_Silent_p.L686L|ZBTB38_ENST00000321464.5_Silent_p.L687L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	686					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCTGACCTCCGGGCAGGGG	0.463000													67	119					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733449	152733449	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:152733449C>T	ENST00000368773.1	+	2	1443	c.1385C>T	c.(1384-1386)cCa>cTa	p.P462L	KPRP_ENST00000606109.1_Missense_Mutation_p.P462L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	462	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCACGTCCATGCCTGCAG	0.632000													81	120					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501792	28501792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28501792G>A	ENST00000412168.2	+	5	603	c.514G>A	c.(514-516)Gac>Aac	p.D172N	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	172					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TATATCCTGGGACCCTGTAAA	0.493000													85	147					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50717097	50717097	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50717097G>A	ENST00000449103.1	-	29	4715	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	PLXNB2_ENST00000359337.4_Silent_p.I1525I			O15031	PLXB2_HUMAN	plexin B2	1525					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCCGACAGGATCTGCGCTG	0.652000													7	28					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651788	20651788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20651788C>T	ENST00000307493.4	-	7	1178	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E371K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	371					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCTACCGTTTCCGACTGCCCA	0.493000													10	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455005	179455005	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179455005G>A	ENST00000589042.1	-	304	61671	c.61447C>T	c.(61447-61449)Cgt>Tgt	p.R20483C	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17915C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18842C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11543C|TTN_ENST00000460472.2_Missense_Mutation_p.R11418C|TTN_ENST00000342175.6_Missense_Mutation_p.R11610C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18842	Fibronectin type-III 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACATCACGACAAGTAACA	0.433000													23	160					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36363479	36363479	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36363479G>A	ENST00000221891.4	+	7	1137	c.945G>A	c.(943-945)atG>atA	p.M315I	APLP1_ENST00000586861.1_Missense_Mutation_p.M309I|APLP1_ENST00000537454.2_Missense_Mutation_p.M276I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	315	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GGGCCAAGATGGACCTGGAGG	0.557000													26	126					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43024176	43024176	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:43024176G>A	ENST00000388752.3	-	3	697	c.273C>T	c.(271-273)atC>atT	p.I91I	MRPL2_ENST00000230413.5_Silent_p.I91I|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	91					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CATGCACCCGGATTCGGCCTG	0.532000													15	33					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244685	77244685	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:77244685C>T	ENST00000426126.2	+	17	2468	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.R607C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	607					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGCCTCTTTCGTCCTGTTAT	0.418000													29	163					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227189	21227189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:21227189C>T	ENST00000233242.1	-	28	12166	c.12039G>A	c.(12037-12039)atG>atA	p.M4013I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4013					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			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)	CATCTTCATCCATATCCATGC	0.532000													28	92					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686829	85686829	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:85686829G>A	ENST00000521268.1	+	3	1377	c.272G>A	c.(271-273)gGa>gAa	p.G91E	RALYL_ENST00000521695.1_Missense_Mutation_p.G91E|RALYL_ENST00000523850.1_Missense_Mutation_p.G18E|RALYL_ENST00000521376.1_Missense_Mutation_p.G18E|RALYL_ENST00000517638.1_Missense_Mutation_p.G104E|RALYL_ENST00000522455.1_Missense_Mutation_p.G91E|RALYL_ENST00000518566.1_Missense_Mutation_p.G91E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	91	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AACATGGCAGGAGAGCCCAAA	0.338000													4	13					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895174	36895174	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:36895174G>A	ENST00000310758.4	-	22	2813	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	ELMO1_ENST00000396040.2_Silent_p.F242F|ELMO1_ENST00000396045.3_Silent_p.F242F|ELMO1_ENST00000341056.3_Silent_p.F424F|ELMO1_ENST00000448602.1_Silent_p.F722F|ELMO1_ENST00000442504.1_Silent_p.F722F	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	722					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGTCATAGACGAAGTCATAGT	0.542000													39	111					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667173	72667173	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72667173G>A	ENST00000373514.2	+	1	84	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCACAGCTGGGACAGGCGGCA	0.602000													11	56					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55890126C>T	ENST00000313472.3	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000													90	554					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545809	82545809	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:82545809A>G	ENST00000423517.2	-	7	11830	c.11493T>C	c.(11491-11493)cgT>cgC	p.R3831R	PCLO_ENST00000437081.1_Silent_p.R551R|PCLO_ENST00000333891.8_Silent_p.R3831R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						ACATGTAATCACGATCCTCAG	0.468000													31	223					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166894560C>T	ENST00000423058.2	-	15	2689	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G891E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G880E|SCN1A_ENST00000409050.1_Missense_Mutation_p.G863E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(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)	GGTTAAATTTCCCAGAGCCCC	0.443000													33	93					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128015297	128015297	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128015297G>A	ENST00000493187.2	-	15	2495	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	ERCC3_ENST00000285398.2_Missense_Mutation_p.R742W			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	742	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|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	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCAAAGCGCCGAGATGCCTGC	0.488000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				37	96					0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17832625	17832625	+	Silent	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:17832625T>C	ENST00000251496.2	+	13	1946	c.1770T>C	c.(1768-1770)ctT>ctC	p.L590L		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	590					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTTAGATTCTTCCTGGAATAA	0.343000													10	33					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948005	133948005	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133948005G>A	ENST00000220616.4	+	25	4977	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	TG_ENST00000377869.1_Missense_Mutation_p.R1589Q|TG_ENST00000542445.1_Missense_Mutation_p.R80Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1646					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCAGAAACGAGATGCACTG	0.458000													9	54					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805042	7805042	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:7805042C>T	ENST00000303635.7	+	17	4537	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L	CAMTA1_ENST00000439411.2_Silent_p.L1444L|CAMTA1_ENST00000476864.1_Silent_p.L8L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCCAGTTATCTAGCGGATGC	0.527000			T	WWTR1	epitheliod hemangioendothelioma								34	70					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593309	1593309	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:1593309G>A	ENST00000436493.2	-	0	316																											GCCCCGAGCCGATTGGCACCA	0.582000													10	69					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112589821	112589821	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:112589821G>A	ENST00000257604.5	+	10	2113	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	TRAFD1_ENST00000412615.2_Missense_Mutation_p.R499Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	499					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGCGGAATCGAGACAGCCAG	0.582000													132	167					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110815834	110815834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:110815834C>T	ENST00000375820.4	-	47	4346	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1409	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGTCCCATCTCTCCTTTCTGG	0.522000													6	54					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782742	115782742	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:115782742G>A	ENST00000343348.6	-	19	3447	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	SEMA6A_ENST00000510263.1_Missense_Mutation_p.S887F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S904F|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S364F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S314F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S266F	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	887					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGACCCAGGGAGGCCTCCCG	0.592000													32	146					0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927470	14927470	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:14927470G>A	ENST00000544848.1	+	1	201	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	22					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CCTCCCGCGCGGGCCTGCAGT	0.677000													9	65					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35445942	35445942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:35445942C>T	ENST00000353139.5	-	55	7440	c.6959G>A	c.(6958-6960)gGt>gAt	p.G2320D	ACACA_ENST00000394406.2_Missense_Mutation_p.G2283D|ACACA_ENST00000360679.3_Missense_Mutation_p.G2225D|ACACA_ENST00000361253.5_Missense_Mutation_p.G409D|ACACA_ENST00000335166.5_Missense_Mutation_p.G2205D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2283					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGAGTGAACACCATCCTCCTC	0.483000													84	176					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180256	139180256	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:139180256C>T	ENST00000395297.1	-	12	1310	c.1140G>A	c.(1138-1140)cgG>cgA	p.R380R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	380										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCGAGTTCCGGATATCCA	0.602000										HNSCC(54;0.14)			20	104					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162678	33162678	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:33162678C>T	ENST00000510327.1	-	0	346																											AAGCTGACTCCTGAGGAAGAA	0.458000													6	31					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044895	43044895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43044895C>T	ENST00000267890.6	-	14	2657	c.2549G>A	c.(2548-2550)gGa>gAa	p.G850E		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	850					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTGAAGTTCCAACTGTCAG	0.378000													17	115					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106109827	106109827	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:106109827G>A	ENST00000390545.2	-	0	693																											TCCCGGGATGGGGGCAGGGTG	0.647000													58	183					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606710	55606710	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55606710C>T	ENST00000378396.1	+	1	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCTGACACTCGCGTGCTCTG	0.448000													11	83					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455421	84455421	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:84455421G>A	ENST00000377084.2	-	1	1107	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	74						integral to membrane				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)		ACTCATTAGGGAAAAGTCGAG	0.463000													12	121					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680810	128680810	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:128680810G>A	ENST00000344954.6	+	9	1575	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	FLI1_ENST00000534087.1_Missense_Mutation_p.G396E|FLI1_ENST00000429175.2_Missense_Mutation_p.G429E|FLI1_ENST00000525560.1_Missense_Mutation_p.G236E|FLI1_ENST00000281428.8_Missense_Mutation_p.G363E			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	429					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCACGGGGGGAATCTACCCC	0.562000			T	EWSR1	Ewing sarcoma								7	141					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013336	103013336	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:103013336C>T	ENST00000409599.1	+	12	1972	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	IL18R1_ENST00000233957.1_Missense_Mutation_p.S539F			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGTTCTTTCCGAGTCTTAA	0.418000													14	49					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978728	70978728	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:70978728C>T	ENST00000276594.2	-	5	1126	c.925G>A	c.(925-927)Ggt>Agt	p.G309S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	309	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCAAATGACCATCTTCAAAG	0.358000													18	139					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943279	11943279	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:11943279G>A	ENST00000304060.5	+	4	1452	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGGAATGTGGGAAAGCCTT	0.413000													37	84					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137743566	137743566	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:137743566G>A	ENST00000183605.5	+	3	729	c.503_splice	c.e3+1	p.R168_splice	CLDN18_ENST00000343735.4_Splice_Site_p.R168_splice	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	168					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GTTCAGACCAGGTAACCTCCT	0.453000													46	91					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534098	152534098	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:152534098T>A	ENST00000427231.2	-	34	3957	c.3755A>T	c.(3754-3756)aAc>aTc	p.N1252I	NEB_ENST00000604864.1_Missense_Mutation_p.N1252I|NEB_ENST00000397345.3_Missense_Mutation_p.N1252I|NEB_ENST00000409198.1_Missense_Mutation_p.N1252I|NEB_ENST00000603639.1_Missense_Mutation_p.N1252I|NEB_ENST00000172853.10_Missense_Mutation_p.N1252I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCTTCGTGTTCTGTTTTGC	0.418000													21	95					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967504	54967504	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:54967504C>T	ENST00000394636.4	+	3	1508	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	IRX5_ENST00000560154.1_Missense_Mutation_p.P171S|IRX5_ENST00000558597.1_Missense_Mutation_p.P325S|IRX5_ENST00000320990.5_Missense_Mutation_p.P390S			P78411	IRX5_HUMAN	iroquois homeobox 5	391					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCGCAGTGTCCTTTTCCAGG	0.692000													14	23					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557173	38557173	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38557173G>A	ENST00000423485.1	-	21	2751	c.2593C>T	c.(2593-2595)Ccc>Tcc	p.P865S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	865					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAAAGTTGGGGATTTTGCAG	0.438000													111	266					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126523218	126523218	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:126523218C>T	ENST00000298492.5	+	9	971	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	309						BRISC complex	polyubiquitin binding			NS(1)	1						CCCCCTTACTCTGATTTTCAC	0.517000													14	54					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33510488	33510488	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:33510488C>T	ENST00000268876.5	+	19	2519	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	UNC45B_ENST00000394570.2_Silent_p.L806L|UNC45B_ENST00000433649.1_Silent_p.L806L|UNC45B_ENST00000378449.1_Silent_p.L727L|UNC45B_ENST00000591048.1_Silent_p.L727L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	808					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCGGCTGAAGCTGGTGGTGCT	0.572000													11	47					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56191271	56191271	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:56191271G>A	ENST00000361673.3	-	7	5738	c.5525C>T	c.(5524-5526)tCc>tTc	p.S1842F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1842	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGGCAAAGGAAACAGTGGA	0.433000													8	48					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18838568	18838568	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:18838568G>A	ENST00000541695.1	-	10	1229	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000534932.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	0	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ggctcatgctggaataatgac	0.388000													5	36					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740925	71740925	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:71740925C>T	ENST00000269500.5	-	10	1411	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	FBXO15_ENST00000419743.2_Missense_Mutation_p.G435E|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	359										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAGGGTTTCCCATGTTCATC	0.463000													25	170					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840434	47840434	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:47840434C>T	ENST00000289672.2	-	54	8056	c.8006G>A	c.(8005-8007)cGa>cAa	p.R2669Q	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2669					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGCAGAAATCGGTGCAGGTG	0.552000													20	83					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269257	34269257	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:34269257G>A	ENST00000346562.2	+	11	1722	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	NPAS3_ENST00000551492.1_Missense_Mutation_p.D587N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D569N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D552N|NPAS3_ENST00000356141.4_Missense_Mutation_p.D582N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCGCCAAGGACTCGGACAG	0.672000													3	19					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154474134	154474134	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:154474134G>A	ENST00000304760.2	-	1	455	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	123										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTGGCCCGGGAGTTTTTGC	0.682000													15	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495927	179495927	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179495927C>T	ENST00000589042.1	-	237	44072	c.43848G>A	c.(43846-43848)gtG>gtA	p.V14616V	TTN_ENST00000342992.6_Silent_p.V12048V|TTN_ENST00000591111.1_Silent_p.V12975V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V5676V|TTN_ENST00000460472.2_Silent_p.V5551V|TTN_ENST00000342175.6_Silent_p.V5743V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12975	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTCACTGGTGCAT	0.373000													10	34					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357872	149357872	+	Silent	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:149357872T>C	ENST00000286298.4	+	2	925	c.657T>C	c.(655-657)atT>atC	p.I219I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	219						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTATGCAATTATGGTTGGCA	0.363000													26	89					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402065	9402065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:9402065G>A	ENST00000378501.2	+	23	2255	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	PLCB4_ENST00000378493.1_Missense_Mutation_p.G747E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G759E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G747E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G747E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G759E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	747	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGAATAATGGACTCAATCCA	0.403000													12	100					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17846827	17846827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:17846827C>T	ENST00000448223.2	-	28	3484	c.3215G>A	c.(3214-3216)aGa>aAa	p.R1072K	SMC6_ENST00000402989.1_Missense_Mutation_p.R1072K|SMC6_ENST00000351948.4_Missense_Mutation_p.R1072K|SMC6_ENST00000381272.4_Missense_Mutation_p.R1098K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1072					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTTTGTCCTCTTTCAGGATC	0.373000													22	71					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442215	145442215	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:145442215C>T	ENST00000511217.1	+	9	2193	c.2141C>T	c.(2140-2142)aCc>aTc	p.T714I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.T714I|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	714							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCCACAACCCTGGTGTCC	0.552000													9	57					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047150	132047150	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:132047150C>T	ENST00000336375.5	+	2	250	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	ACPP_ENST00000475741.1_Missense_Mutation_p.P54S|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.P54S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	54						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGACACCTTTCCCACTGACCC	0.473000													19	117					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52960700	52960700	+	Missense_Mutation	SNP	G	G	A	rs143324533		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:52960700G>A	ENST00000295213.4	+	12	1945	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	524					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGATGTCTCGAAGTCGGAGT	0.343000													31	48					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547161	37547161	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:37547161C>T	ENST00000299824.1	+	11	1745	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P477L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	519					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCAAGGCCCCCTTGATCGGA	0.607000													9	66					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845343	53845343	+	Silent	SNP	C	C	T	rs34734703		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:53845343C>T	ENST00000288139.3	+	49	6574	c.6456C>T	c.(6454-6456)gaC>gaT	p.D2152D	CACNA1D_ENST00000422281.2_Silent_p.D2108D|CACNA1D_ENST00000350061.5_Silent_p.D2132D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2132					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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)	AGCTACAGGACTTTGGTCCTG	0.607000													12	112					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585448	70585448	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:70585448G>A	ENST00000260126.3	-	10	2909	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R680C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	735						integral to membrane|plasma membrane	transporter activity			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)			TACACAAAACGAAACGACGTC	0.463000													53	195					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080339	29080339	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:29080339C>T	ENST00000377169.1	+	1	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224I(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATGGTGCCATCGTCCGAGCTA	0.458000													24	124					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713849	70713849	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:70713849C>T	ENST00000530196.1	-	0	669					NR_003951.1																						ACTTCCTTCTCTGTTAAGCTA	0.438000													21	73					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123787498	123787498	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:123787498G>A	ENST00000422452.2	-	7	1367	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	TENM1_ENST00000371130.3_Missense_Mutation_p.S435F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTGGCTAAAGAAATATTGAA	0.388000													71	175					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746064	47746064	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:47746064G>A	ENST00000360380.3	-	13	2429	c.2066C>T	c.(2065-2067)cCt>cTt	p.P689L	STIL_ENST00000243182.6_Missense_Mutation_p.P689L|STIL_ENST00000371877.3_Missense_Mutation_p.P689L|STIL_ENST00000337817.5_Missense_Mutation_p.P689L|STIL_ENST00000396221.2_Missense_Mutation_p.P689L			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	689	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CATATGTGAAGGCGGTCTTGC	0.483000													70	95					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492051	87492051	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:87492051G>A	ENST00000296595.6	-	12	1565	c.1441C>T	c.(1441-1443)Cac>Tac	p.H481Y	TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000511218.1_Missense_Mutation_p.H272Y|TMEM161B_ENST00000514135.1_Intron|TMEM161B_ENST00000512429.1_Missense_Mutation_p.H470Y	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	481						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGATACTGGTGATAGAAAAGC	0.378000													9	33					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35032909	35032909	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:35032909G>A	ENST00000231420.6	-	7	897	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	233					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CAAGGGCCACGAAAAACATCT	0.522000													7	11					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637738	158637738	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158637738C>T	ENST00000368148.3	-	15	2128	c.1948G>A	c.(1948-1950)Ggt>Agt	p.G650S	SPTA1_ENST00000368147.3_Missense_Mutation_p.G650S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	650					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			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)					TAGTGACCACCCTCAATCATC	0.468000													93	97					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749815	2749815	+	Silent	SNP	G	G	T	rs138413279	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:2749815G>T	ENST00000382611.6	-	2	584	c.336C>A	c.(334-336)ctC>ctA	p.L112L	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.L112L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682000													10	71					1.76689e-08	1.77832e-08	1	1	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:31754406G>A	ENST00000405650.1	-	0	834				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000													19	48					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62255041	62255041	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:62255041G>A	ENST00000261517.5	-	33	3415	c.3342C>T	c.(3340-3342)tcC>tcT	p.S1114S	VPS13C_ENST00000249837.3_Silent_p.S1071S|VPS13C_ENST00000395896.4_Silent_p.S1114S|VPS13C_ENST00000395898.3_Silent_p.S1071S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1114					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAGAAAGGGAGGAATCCAGTC	0.343000													4	51					0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25266532	25266532	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:25266532G>A	ENST00000222674.2	-	2	298	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	84					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGTTGGCGAAGGAGTGTGGCA	0.428000													31	226					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330509	75330509	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:75330509G>A	ENST00000556084.2	-	1	28	c.29C>T	c.(28-30)cCt>cTt	p.P10L	PROX2_ENST00000445876.1_Missense_Mutation_p.P10L|PROX2_ENST00000556489.2_Missense_Mutation_p.P10L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	10					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTGGGGCTGAGGAGAAAGCAA	0.547000													24	48					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611036	44611036	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44611036C>T	ENST00000336976.6	+	6	977	c.723C>T	c.(721-723)ttC>ttT	p.F241F	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	241					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GGAAAGGCTTCAGTCGTAGAT	0.438000													54	287					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037323	220037323	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:220037323G>A	ENST00000409789.1	-	9	1645	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	CNPPD1_ENST00000360507.5_Silent_p.F406F			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	406					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CTGGGAAAACGAAAGACTTGA	0.542000													32	139					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835154	12835154	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:12835154C>T	ENST00000357726.4	+	1	171	c.144C>T	c.(142-144)tgC>tgT	p.C48C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAGATGCTGCGAGACCC	0.582000													55	75					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644531	39644531	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39644531C>A	ENST00000393986.2	-	4	725	c.513G>T	c.(511-513)aaG>aaT	p.K171N	KRT36_ENST00000328119.6_Missense_Mutation_p.K221N			O76013	KRT36_HUMAN	keratin 36	221	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCAGCTCCTCCTTCAGGGACT	0.592000													24	108					7.92952e-12	7.99373e-12	1	1	0
TRIM71	131405	broad.mit.edu	37	3	32932625	32932625	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:32932625C>T	ENST00000383763.4	+	4	1992	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	643					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCACAAATTCGGCACCCTGG	0.632000													9	58					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516172	51516172	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:51516172G>A	ENST00000328188.1	+	1	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348000													12	45					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130851631	130851631	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130851631G>A	ENST00000383366.4	+	6	791	c.498G>A	c.(496-498)ctG>ctA	p.L166L	NEK11_ENST00000511262.1_Silent_p.L166L|NEK11_ENST00000510688.1_Silent_p.L166L|NEK11_ENST00000356918.4_Silent_p.L166L|NEK11_ENST00000510769.1_Silent_p.L166L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000508196.1_Silent_p.L166L|NEK11_ENST00000507910.1_Silent_p.L166L|NEK11_ENST00000412440.2_Silent_p.L18L|NEK11_ENST00000429253.2_Silent_p.L166L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	166	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGTATTTCTGAAAAATAATC	0.269000													7	15					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192442	22192442	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22192442G>A	ENST00000390425.2	+	0	393																											CATCACAGGGGATAACCTGGT	0.463000													37	84					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179761	103179761	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:103179761C>T	ENST00000424685.2	-	45	7103	c.6944G>A	c.(6943-6945)gGa>gAa	p.G2315E	RELN_ENST00000343529.5_Missense_Mutation_p.G2315E|RELN_ENST00000428762.1_Missense_Mutation_p.G2315E			P78509	RELN_HUMAN	reelin	2315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAATATTTCCTCCAATAAG	0.373000													20	44					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273607	65273607	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:65273607C>T	ENST00000534336.1	+	0	8375					NR_002819.2																						GGTTGGCACTCCTGGTTTCCA	0.418000													9	62					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050937	103050937	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:103050937G>A	ENST00000306312.3	-	7	891	c.630C>T	c.(628-630)gtC>gtT	p.V210V	SLC26A5_ENST00000393723.1_Silent_p.V210V|SLC26A5_ENST00000393729.1_Silent_p.V173V|SLC26A5_ENST00000393730.1_Silent_p.V210V|SLC26A5_ENST00000393735.2_Silent_p.V210V|SLC26A5_ENST00000356767.4_Silent_p.V210V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Silent_p.V210V|SLC26A5_ENST00000432958.2_Silent_p.V210V|SLC26A5_ENST00000393727.1_Silent_p.V210V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	210					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TAAACCCACGGACCAGAGGCT	0.413000													9	79					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671516	39671516	+	Silent	SNP	G	G	A	rs142632089		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:39671516G>A	ENST00000398930.1	+	4	687	c.333G>A	c.(331-333)gtG>gtA	p.V111V	KCNJ15_ENST00000398938.2_Silent_p.V111V|KCNJ15_ENST00000328656.3_Silent_p.V111V|KCNJ15_ENST00000398932.1_Silent_p.V111V|KCNJ15_ENST00000398934.1_Silent_p.V111V			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	111					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCATGAAAGTGGACTCTCTCA	0.493000													42	139					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971080	28971080	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28971080C>T	ENST00000359747.4	+	7	753	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R242W|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	242	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			AGGCTCAGATCGGGATGGAGC	0.408000													7	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25460699	25460699	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25460699G>A	ENST00000424208.1	+	0	2739				SNORD115-25_ENST00000362619.1_RNA	NR_003305.1																						GGTCGATTATGAGAACCTTAT	0.522000													71	386					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109782121	109782121	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:109782121G>A	ENST00000399132.1	-	23	1734	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	COL25A1_ENST00000399126.1_Missense_Mutation_p.R402C|COL25A1_ENST00000399127.1_Missense_Mutation_p.R383C	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	402	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTTTCTCCACGATCCCCCTTT	0.438000													6	65					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744698	140744698	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140744698G>A	ENST00000518069.1	+	1	801	c.801G>A	c.(799-801)acG>acA	p.T267T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCCACGGATCCAGATG	0.498000													17	80					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348335	26348335	+	Silent	SNP	C	C	T	rs138691912	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:26348335C>T	ENST00000335473.7	+	38	6166	c.5916C>T	c.(5914-5916)atC>atT	p.I1972I	MYO18B_ENST00000536101.1_Silent_p.I1972I|MYO18B_ENST00000407587.2_Silent_p.I1973I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1972	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			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						AGGCGGTCATCTGTGACCTAG	0.517000													7	26					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458637	129458637	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:129458637C>T	ENST00000355497.5	+	8	1135	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	LMX1B_ENST00000526117.1_Silent_p.F365F|LMX1B_ENST00000425646.2_Silent_p.F342F|LMX1B_ENST00000373474.4_Silent_p.F372F|LMX1B_ENST00000561065.1_Silent_p.F353F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	349					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGACTGCTTCCTCGGCTCCT	0.627000									Nail-Patella Syndrome				35	170					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119961	103119961	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:103119961G>A	ENST00000295269.4	+	3	1232	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	259					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGAAGACATAGAAACTGTCGA	0.353000													8	50					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118648	58118648	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58118648C>T	ENST00000332854.6	+	3	1975	c.1755C>T	c.(1753-1755)agC>agT	p.S585S	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATCCTTTAGCCAAAGCTCTG	0.383000													13	114					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852412	144852412	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:144852412G>A	ENST00000369356.4	-	44	7321	c.7031C>T	c.(7030-7032)tCc>tTc	p.S2344F	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_3'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000530740.1_3'UTR	NM_001198834.2|NM_014644.4	NP_001185763.2|NP_055459.4	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1955					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			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)		CTGTTTTAAGGACTTCTGGTG	0.557000			T	PDGFRB	MPD								17	41					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331464	83331464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:83331464G>A	ENST00000261722.3	-	22	2965	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	AP3B2_ENST00000535359.1_Nonsense_Mutation_p.Q939*|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.Q888*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	920					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAATTCTTGGATGCTGATG	0.562000													5	19					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951558	119951558	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:119951558C>T	ENST00000307142.4	+	4	1824	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S543L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S543L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	543						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.S543L(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						GAGGAAGAGTCGGTAAGAACG	0.517000													45	72					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55791485	55791485	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:55791485G>A	ENST00000272313.5	-	13	2296	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	SMEK2_ENST00000407823.3_Missense_Mutation_p.P710S|SMEK2_ENST00000345102.5_Missense_Mutation_p.P742S	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	742						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATTATCTGGAAAATCATCT	0.348000													37	44					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43004409	43004409	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:43004409G>A	ENST00000587309.1	-	14	2373	c.2350C>T	c.(2350-2352)Cca>Tca	p.P784S	KIF18B_ENST00000593135.1_Missense_Mutation_p.P772S|KIF18B_ENST00000590129.1_Missense_Mutation_p.P793S|KIF18B_ENST00000339151.4_Missense_Mutation_p.P775S|KIF18B_ENST00000438933.2_Missense_Mutation_p.P784S	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GAAGATGTTGGCTTGGGGCCC	0.617000													3	16					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939100	22939100	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:22939100C>T	ENST00000397104.3	-	8	3020	c.3021G>A	c.(3019-3021)ggG>ggA	p.G1007G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGTTTTCCCTCCAGTAT	0.378000													10	75					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188012	140188012	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140188012G>A	ENST00000530339.1	+	1	1240	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D414N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D414N	NM_018907.2	NP_061730.1												p.D414Y(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)			CAGTGCCCTGGACCGCGAGAG	0.617000													31	195					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797279	57797279	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:57797279C>T	ENST00000309042.7	+	4	2569	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	752	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTCTCCTCCCATGGAGGTG	0.557000													99	616					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455971	138455971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:138455971C>T	ENST00000310018.2	-	3	304	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E8K|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E8K|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	8					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATCTCCTCGCTTCGAAAC	0.443000													34	369					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718808	108718808	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:108718808C>T	ENST00000218006.2	-	2	649	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	120					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATCCTGAGGCCATCTGGTGG	0.493000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	385					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954506	70954506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:70954506C>T	ENST00000334414.6	-	17	4421	c.4377G>A	c.(4375-4377)tgG>tgA	p.W1459*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.W1458*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.W1241*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.W1371*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1241	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)			GAGTTACCACCCACAGCACGT	0.517000													27	47					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787906	27787906	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:27787906T>A	ENST00000318304.8	+	4	411	c.128T>A	c.(127-129)aTg>aAg	p.M43K	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.M43K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.M43K|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.M43K|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.M43K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	43					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTCCATTCATGGGAAGTTTG	0.443000													24	160					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849381	73849381	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:73849381G>A	ENST00000523207.1	+	3	2379	c.1791G>A	c.(1789-1791)atG>atA	p.M597I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	597					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGTGGACATGAAGAGCACCT	0.572000													22	137					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169532974	169532974	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:169532974G>A	ENST00000449804.2	+	1	58	c.13G>A	c.(13-15)Gac>Aac	p.D5N	FOXI1_ENST00000306268.6_Missense_Mutation_p.D5N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	5					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			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)			GAGCTCCTTCGACCTGCCGGC	0.697000									Pendred syndrome				3	27					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616450	77616450	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:77616450G>A	ENST00000521891.2	+	2	575	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E43K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E43K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E43K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTGACAGGGAAAACAGCTC	0.502000										HNSCC(33;0.089)			18	71					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762408	43762408	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:43762408G>A	ENST00000244293.7	-	4	976	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	PSG9_ENST00000418820.2_Missense_Mutation_p.H304Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H211Y|PSG9_ENST00000270077.3_Missense_Mutation_p.H397Y|PSG9_ENST00000593948.1_Missense_Mutation_p.H304Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H304Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H211Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	313	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAGTTATGAACAGAGCAA	0.433000													52	370					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47168901	47168901	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:47168901G>A	ENST00000447411.1	-	13	1436	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC38A4_ENST00000266579.4_Silent_p.I410I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	410					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGAGAAGGGGGATGTCTAATG	0.428000													64	91					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158523177	158523177	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:158523177C>T	ENST00000415822.2	+	3	531	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MFSD1_ENST00000264266.8_Silent_p.F81F|MFSD1_ENST00000392813.4_Intron	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	81					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCACGAAATTCATGCTGCTGT	0.333000													31	318					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323679	29323679	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:29323679C>T	ENST00000377154.1	-	4	593	c.294G>A	c.(292-294)gtG>gtA	p.V98V	OR5V1_ENST00000543825.1_Silent_p.V98V			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGTTGAACCACACACCCCA	0.428000													15	135					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836841	43836841	+	Silent	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:43836841A>C	ENST00000372781.3	+	2	960	c.903A>C	c.(901-903)ggA>ggC	p.G301G	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCACTATGGAGAAAATGGTG	0.388000													38	91					0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93684979	93684979	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:93684979C>T	ENST00000013070.6	+	7	944	c.708C>T	c.(706-708)ctC>ctT	p.L236L	UBR7_ENST00000416753.1_Silent_p.L160L	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	236							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATAGTACCCTCAAAGAGGATG	0.448000													16	95					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417690	40417690	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:40417690C>T	ENST00000333407.5	+	4	1270	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	392										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCCCATCCCCTTGGGAGAGC	0.647000													12	32					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014329	168014329	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:168014329T>C	ENST00000367840.3	+	16	2216	c.2122T>C	c.(2122-2124)Ttc>Ctc	p.F708L	DCAF6_ENST00000367843.3_Missense_Mutation_p.F651L|DCAF6_ENST00000432587.2_Missense_Mutation_p.F677L|DCAF6_ENST00000312263.6_Missense_Mutation_p.F631L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	631					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGAGCCTCAGTTCCAAACAGA	0.468000													62	37					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51020221	51020221	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:51020221A>G	ENST00000406938.2	-	3	621	c.404T>C	c.(403-405)cTg>cCg	p.L135P	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	135					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACTCCGTACAGCTGGGGCCC	0.622000													37	121					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719166	13719166	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13719166G>A	ENST00000265104.4	-	72	12428	c.12324C>T	c.(12322-12324)ttC>ttT	p.F4108F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4108	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCATCCATGAAATCAAGTC	0.443000									Kartagener syndrome				15	67					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726944	63726944	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:63726944C>T	ENST00000421025.1	+	5	1202	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ZNF679_ENST00000255746.4_Silent_p.L311L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTCATCCCTCACTTACCACA	0.423000													29	59					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44385092	44385092	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:44385092A>T	ENST00000350028.4	+	13	1334	c.1177A>T	c.(1177-1179)Aca>Tca	p.T393S	SAMM50_ENST00000396202.3_Missense_Mutation_p.T183S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	393					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTTTTCCGAACACACTTCTT	0.488000													28	139					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903793	4903793	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4903793C>T	ENST00000380378.1	+	1	745	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L222L|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCTATGTCCTGATCCTCCG	0.433000													25	70					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762039	96762039	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:96762039T>A	ENST00000295266.4	+	1	801	c.738T>A	c.(736-738)ttT>ttA	p.F246L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	246					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGGGCAATTTTATCCCTGGGC	0.443000													37	72					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060506	8060506	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:8060506C>T	ENST00000305253.4	+	1	327	c.86C>T	c.(85-87)cCc>cTc	p.P29L	TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTCCCTGGCCCATGGGATCT	0.557000													54	114					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482600	94482600	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:94482600G>A	ENST00000377047.4	+	3	1128	c.513G>A	c.(511-513)cgG>cgA	p.R171R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	171						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCCTGGAACGGATGTTTCAGC	0.488000													14	92					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978596	63978596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:63978596G>A	ENST00000260116.4	-	3	450	c.419C>T	c.(418-420)tCc>tTc	p.S140F	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	140	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AATAAGCTCGGATGTGATTAG	0.383000													8	68					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30806793	30806793	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:30806793G>A	ENST00000383096.3	-	16	1802	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	CCDC178_ENST00000583930.1_Silent_p.L540L|CCDC178_ENST00000403303.1_Silent_p.L540L|CCDC178_ENST00000406524.2_Silent_p.L540L|CCDC178_ENST00000579947.1_Silent_p.L540L|CCDC178_ENST00000300227.8_Silent_p.L540L|CCDC178_ENST00000402325.1_Silent_p.L540L|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		CACCTTGAGTGAGTTTTTTCA	0.284000													14	52					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5594150	5594150	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:5594150G>A	ENST00000252542.4	-	15	2223	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	653	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCTCATGGAAGGCCTCGAGGC	0.711000													4	34					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711409	4711409	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:4711409G>A	ENST00000263088.6	+	3	371	c.240_splice	c.e3+1	p.K80_splice	PLD2_ENST00000572940.1_Splice_Site_p.K80_splice	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	80	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCGGATCCAAGGTGGCCAGAC	0.642000													12	85					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79373445	79373445	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:79373445G>A	ENST00000264895.6	+	47	7140	c.6700G>A	c.(6700-6702)Gaa>Aaa	p.E2234K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2233					cell communication	integral to membrane|plasma membrane	metal ion binding	p.E2234K(1)|p.E2235K(1)		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						TGGGCCTACAGAATTGATCTA	0.473000													8	81					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													13	53					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581166	25581166	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:25581166C>T	ENST00000329474.6	+	30	3125	c.2757C>T	c.(2755-2757)tcC>tcT	p.S919S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	919					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCCTAAATCCAAAAGGAAGA	0.403000													5	15					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55473528	55473528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:55473528G>A	ENST00000394600.3	-	11	1787	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	MTIF2_ENST00000263629.4_Missense_Mutation_p.P351S|MTIF2_ENST00000403721.1_Missense_Mutation_p.P351S	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	351					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGACCATTGGGATCTGCTTTC	0.388000													59	109					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50381220	50381220	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:50381220G>A	ENST00000376020.2	-	3	383	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SHROOM4_ENST00000289292.7_Missense_Mutation_p.P120S|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P4S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	120					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTTCAGAAGGGAAATGCATG	0.577000													14	22					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079044	7079044	+	Silent	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:7079044T>C	ENST00000299481.4	+	7	2774	c.2428T>C	c.(2428-2430)Tta>Cta	p.L810L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	810					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGAGGCCTTAAGACATCC	0.388000													44	132					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312994	48312994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:48312994C>T	ENST00000435803.1	+	17	3755	c.3731C>T	c.(3730-3732)tCa>tTa	p.S1244L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1244					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						GCATTAGTTTCAGTAAAAAAA	0.383000													5	25					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691977	106691977	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:106691977C>T	ENST00000390607.2	-	0	125																											ACACTGGACACCTGCAAACAG	0.522000													26	287					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777534	141777534	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141777534C>T	ENST00000389484.3	-	12	2898	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	643					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGACATTTCACCCTCTAAA	0.373000										TSP Lung(27;0.18)			33	92					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88705577	88705577	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:88705577C>T	ENST00000244241.4	+	2	244	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	65					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGCCTGTAGCCCTGGTGTCCA	0.692000													13	31					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888140	131888140	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:131888140C>T	ENST00000359827.3	-	11	3299	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V	PLXNA4_ENST00000321063.4_Silent_p.V779V			Q9HCM2	PLXA4_HUMAN	plexin A4	779						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGTCAACTCCACGGGCAGGT	0.557000													89	77					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004158	34004158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:34004158G>A	ENST00000374181.3	-	8	1898	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	GRM4_ENST00000544773.1_Missense_Mutation_p.P408S|GRM4_ENST00000374177.3_Missense_Mutation_p.P461S|GRM4_ENST00000545715.1_Missense_Mutation_p.P269S|GRM4_ENST00000455714.2_Missense_Mutation_p.P437S|GRM4_ENST00000538487.1_Missense_Mutation_p.P577S|GRM4_ENST00000535756.1_Missense_Mutation_p.P444S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	577					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGATGATGGGGATGGGCCGG	0.632000													28	31					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486497	109486497	+	Silent	SNP	G	G	A	rs138361021		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:109486497G>A	ENST00000369971.2	-	5	651	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CLCC1_ENST00000369970.3_Silent_p.F124F|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000356970.2_Silent_p.F174F|CLCC1_ENST00000369976.1_Silent_p.F174F|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000415331.1_Silent_p.F124F|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000302500.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	174						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGGAATCTTCGAATCGCCACT	0.363000													30	35					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372145	76372145	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76372145G>A	ENST00000407242.2	-	3	734	c.492C>T	c.(490-492)ctC>ctT	p.L164L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L164L|LRRC32_ENST00000260061.5_Silent_p.L164L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	164						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTGGCGGGTGAGGCGAGTCA	0.647000													7	95					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4593483	4593483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4593483G>A	ENST00000307616.1	-	3	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	117										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAGATCCAGGAAATAGAGAT	0.458000													10	70					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76257161	76257161	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76257161G>A	ENST00000529032.1	+	19	3594	c.3594G>A	c.(3592-3594)gcG>gcA	p.A1198A	C11orf30_ENST00000524490.1_Silent_p.A1100A|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.A1198A|C11orf30_ENST00000525919.1_Silent_p.A1199A|C11orf30_ENST00000533248.1_Silent_p.A1107A|C11orf30_ENST00000525038.1_Silent_p.A1199A|C11orf30_ENST00000524767.1_Silent_p.A1213A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1198					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGGATGGCGAATTCCACTC	0.517000													34	160					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172738	38172738	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38172738G>A	ENST00000331769.2	+	3	508	c.291_splice	c.e3-1	p.A98_splice	CSF3_ENST00000394149.3_Splice_Site_p.A102_splice|CSF3_ENST00000225474.2_Splice_Site_p.A105_splice|CSF3_ENST00000577675.1_Splice_Site_p.A62_splice|CSF3_ENST00000394148.3_Splice_Site_p.A69_splice			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	105					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGTCTCACAGGCAGGCTGCTT	0.622000													87	160					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18806753	18806753	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:18806753C>T	ENST00000406451.3	+	16	2330	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	HDAC9_ENST00000441542.2_Missense_Mutation_p.S730F|HDAC9_ENST00000432645.2_Missense_Mutation_p.S727F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S686F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	727	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGTTTTTTTCCTCATTACCT	0.264000													4	15					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35604908	35604908	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:35604908C>T	ENST00000542713.1	-	3	290	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	FKBP5_ENST00000357266.4_Missense_Mutation_p.E45K|FKBP5_ENST00000539068.1_Missense_Mutation_p.E45K|FKBP5_ENST00000536438.1_Missense_Mutation_p.E45K|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	45	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATCGGCGTTTCCTCACCATTC	0.343000													25	45					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284194	159284194	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:159284194G>A	ENST00000332217.5	-	1	255	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGATTCAAGAGACCAGAAAGC	0.498000													67	92					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709246	77709246	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:77709246G>A	ENST00000298351.4	+	15	1332	c.1187_splice	c.e15-1	p.W396_splice		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	396						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCCCCAGGAAACACCTGT	0.547000													15	66					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19411035	19411035	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:19411035G>A	ENST00000375267.2	-	102	14974	c.14971C>T	c.(14971-14973)Ccg>Tcg	p.P4991S	UBR4_ENST00000375226.2_Missense_Mutation_p.P4967S|UBR4_ENST00000543981.1_Missense_Mutation_p.P655S|UBR4_ENST00000375217.2_Missense_Mutation_p.P4984S|UBR4_ENST00000375224.1_Missense_Mutation_p.P698S|UBR4_ENST00000429347.2_Missense_Mutation_p.P514S|UBR4_ENST00000375254.3_Missense_Mutation_p.P4991S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4991					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGATGTACGGGATCAGGTGG	0.602000													9	78					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051985	132051985	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:132051985G>A	ENST00000286355.5	-	1	2687	c.595C>T	c.(595-597)Cta>Tta	p.L199L	ADCY8_ENST00000377928.3_Silent_p.L199L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	199					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCAAGTGTAGGACCAAGAGA	0.582000										HNSCC(32;0.087)			13	66					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072405	234072405	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:234072405G>A	ENST00000359570.5	+	14	1257	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	INPP5D_ENST00000455936.2_Silent_p.Q183Q|INPP5D_ENST00000450745.1_Silent_p.Q183Q|INPP5D_ENST00000538935.1_Silent_p.Q418Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	431					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAGGGGCAGGGAAAGACGC	0.567000													55	169					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55204123	55204123	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:55204123A>T	ENST00000396834.1	+	13	1824	c.1328A>T	c.(1327-1329)gAg>gTg	p.E443V	IL31RA_ENST00000396836.2_Missense_Mutation_p.E462V|IL31RA_ENST00000359040.5_Missense_Mutation_p.E462V|IL31RA_ENST00000490985.1_Missense_Mutation_p.E320V|IL31RA_ENST00000354961.4_Missense_Mutation_p.E443V|IL31RA_ENST00000297015.3_Missense_Mutation_p.E320V|IL31RA_ENST00000447346.2_Missense_Mutation_p.E462V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	430	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCAAGGTGGAGAACATTGGC	0.483000													19	60					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50573894	50573894	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:50573894C>T	ENST00000342183.5	-	1	998	c.194G>A	c.(193-195)aGc>aAc	p.S65N	NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401669.2_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				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			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)			ATGCTTGCTGCTGCCATGGAA	0.602000													15	48					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323360	31323360	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:31323360G>A	ENST00000265071.2	+	12	2583	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGGGACCTCGATTCAAAAAG	0.463000													19	103					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11135392	11135392	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:11135392A>G	ENST00000321143.4	+	4	460	c.258A>G	c.(256-258)ccA>ccG	p.P86P	HCCS_ENST00000380762.4_Silent_p.P86P|HCCS_ENST00000380763.3_Silent_p.P86P	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	86					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TTTAGATGCCACCACCAAATC	0.368000													50	128					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362720	153362720	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:153362720C>T	ENST00000368733.3	-	3	311		c.e3-1		S100A8_ENST00000368732.1_Splice_Site|S100A8_ENST00000477801.1_Splice_Site	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8						chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCTTTTTCTGTCAAGATT	0.507000													167	133					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661284	176661284	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:176661284C>T	ENST00000367662.3	+	6	3618	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	818					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACAACTTCACTCCTAACC	0.473000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	80					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728975	95728975	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:95728975G>A	ENST00000311106.3	-	14	2229	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	PCSK1_ENST00000508626.1_Silent_p.S617S|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	664					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATGGCCTGGGAAGGGGCTC	0.557000													24	95					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434184	72434184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72434184C>T	ENST00000373517.3	-	1	500	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	49					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GCAGCTTCTTCACCGCACTTC	0.567000													25	64					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727608	39727608	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39727608C>T	ENST00000246662.4	-	1	702	c.637G>A	c.(637-639)Gac>Aac	p.D213N	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	213	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTACCTGGTCCTTGAGATCA	0.403000													19	161					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839962	25839962	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:25839962C>T	ENST00000376351.3	+	6	1821	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	488						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R488G(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						AAGATGGGCTCGTCTTCTCGG	0.393000													43	92					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394286	17394286	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17394286C>T	ENST00000394458.3	+	5	989	c.713C>T	c.(712-714)cCc>cTc	p.P238L	ANKLE1_ENST00000594072.1_Missense_Mutation_p.P227L|ANKLE1_ENST00000598347.1_Missense_Mutation_p.P238L|ANKLE1_ENST00000433424.2_Missense_Mutation_p.P292L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P260L	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	238						nuclear envelope		p.P224L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCGGACACTCCCCCCTGGGCT	0.627000													23	89					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97613200	97613200	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:97613200G>A	ENST00000275053.4	-	21	3408	c.3143C>T	c.(3142-3144)cCt>cTt	p.P1048L	MMS22L_ENST00000369251.2_Missense_Mutation_p.P1008L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1048					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGCAAAACAGGATGTTGTCC	0.368000													16	80					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169515827	169515827	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:169515827C>T	ENST00000367796.3	-	11	1816	c.1615G>A	c.(1615-1617)Gca>Aca	p.A539T	F5_ENST00000367797.3_Missense_Mutation_p.A539T|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	539	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGTCTGCTGCCCTCTGGAGG	0.438000													79	56					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823866	70823866	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70823866G>A	ENST00000373695.1	+	7	1276	c.739G>A	c.(739-741)Gac>Aac	p.D247N	ACRC_ENST00000373696.3_Missense_Mutation_p.D247N			Q96QF7	ACRC_HUMAN	acidic repeat containing	247	Asp/Ser-rich.					nucleus		p.D247N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.552000													53	297					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184565	19184565	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:19184565C>T	ENST00000275461.3	-	1	479	c.421G>A	c.(421-423)Gag>Aag	p.E141K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	141	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGGAGGGTCTCGATCCGGGAC	0.572000													6	68					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052842	49052842	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:49052842C>T	ENST00000226432.4	+	15	2180	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	CWH43_ENST00000513409.1_Missense_Mutation_p.S639F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	666					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGAGAAGTTTCTGAGAAAATT	0.393000													19	45					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509642	23509642	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:23509642G>A	ENST00000296682.3	+	3	315	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	45	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGATGGGAGACTGGGAGAA	0.433000										HNSCC(3;0.000094)			26	153					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153657425	153657425	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153657425G>A	ENST00000369762.2	+	2	254	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	65					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACACTCATGAAGGCCACAT	0.622000													15	108					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176710809	176710809	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:176710809C>T	ENST00000439151.2	+	20	6076	c.6031C>T	c.(6031-6033)Ccc>Tcc	p.P2011S	NSD1_ENST00000361032.4_Missense_Mutation_p.P1908S|NSD1_ENST00000354179.4_Missense_Mutation_p.P1742S|NSD1_ENST00000347982.4_Missense_Mutation_p.P1742S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2011	SET.				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			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)		TGATGCTGGTCCCAAAGGAAA	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	114					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749080	51749080	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:51749080C>T	ENST00000395052.3	+	4	1525	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	GRM2_ENST00000442933.2_Missense_Mutation_p.P431S|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	431					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CATCCTAGCCCCCTTTCGCCC	0.537000													14	71					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372477	175372477	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:175372477C>T	ENST00000367674.1	-	4	1483	c.775G>A	c.(775-777)Gag>Aag	p.E259K	TNR_ENST00000263525.2_Missense_Mutation_p.E259K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	259	Cys-rich.|EGF-like 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					CTGCAGTCCTCGCCAGTGTAG	0.627000													34	54					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130502	52130502	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:52130502C>T	ENST00000222107.4	-	7	1421		c.e7-1		SIGLEC5_ENST00000570106.2_Splice_Site|SIGLEC5_ENST00000599649.1_Splice_Site|SIGLEC5_ENST00000534261.2_Splice_Site|SIGLEC5_ENST00000429354.3_Splice_Site			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5						cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTCGATCTCCCTGCAGAAAAG	0.562000													10	47					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585327	82585327	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:82585327T>C	ENST00000423517.2	-	5	5279	c.4942A>G	c.(4942-4944)Act>Gct	p.T1648A	PCLO_ENST00000333891.8_Missense_Mutation_p.T1648A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1579					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						TGACTTTTAGTTTCTCTGTAT	0.393000													41	253					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427579	25427579	+	RNA	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25427579A>G	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						GATAACTTAAAAATCATGCTC	0.522000													31	461					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102954760	102954760	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:102954760C>T	ENST00000311734.2	+	2	375	c.36C>T	c.(34-36)ctC>ctT	p.L12L	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Silent_p.L12L|IL1RL1_ENST00000233954.1_Silent_p.L12L|IL1RL1_ENST00000393393.3_Silent_p.L12L|IL1RL1_ENST00000404917.2_Intron			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	12					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAATTCTCATGTATTCCA	0.308000													37	107					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298225	123298225	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:123298225C>T	ENST00000358487.5	-	6	901	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	FGFR2_ENST00000351936.6_Missense_Mutation_p.R210Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R95Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R95Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000357555.5_Missense_Mutation_p.R121Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R121Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R210Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	210	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R121Q(1)|p.R210Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGCTGGTTTCGTACCTGAAA	0.423000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				34	56					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494345	133494345	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:133494345A>T	ENST00000402696.3	+	15	2241	c.1756A>T	c.(1756-1758)Acc>Tcc	p.T586S	TF_ENST00000264998.3_Missense_Mutation_p.T459S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	586	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTTGATGGTACCAGGAAACC	0.502000													34	242					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56515201C>T	ENST00000390649.3	+	2	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	61	DAPIN.					mitochondrion|nucleolus	ATP binding			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)		CTCACCTTTTCCAGCTACGGG	0.433000													40	90					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132445318	132445318	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:132445318C>T	ENST00000370828.3	-	4	1369	c.845G>A	c.(844-846)gGg>gAg	p.G282E	GPC4_ENST00000535467.1_Missense_Mutation_p.G212E	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	282					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCGAGATCCCCTTGGTTGGC	0.448000													32	240					0	0	1	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165396	134165396	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:134165396C>T	ENST00000372264.3	+	1	316	c.12C>T	c.(10-12)tcC>tcT	p.S4S	PPAPDC3_ENST00000372261.1_Silent_p.S4S	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	4						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TGCCAGCTTCCCAGAGCCGGG	0.706000													4	28					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417689	40417689	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:40417689C>G	ENST00000333407.5	+	4	1269	c.1175C>G	c.(1174-1176)cCc>cGc	p.P392R	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	392										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GAGCCCATCCCCTTGGGAGAG	0.647000													12	31					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95568590	95568590	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:95568590T>C	ENST00000393223.3	-	17	2242	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	MTMR2_ENST00000409459.1_Missense_Mutation_p.E527G|MTMR2_ENST00000346299.5_Missense_Mutation_p.E599G|MTMR2_ENST00000352297.7_Missense_Mutation_p.E527G	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	599	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAAGAAGTTCTTTGTATCT	0.413000													6	87					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305377	206305377	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:206305377C>A	ENST00000406610.2	+	20	3232	c.3025C>A	c.(3025-3027)Cca>Aca	p.P1009T	PARD3B_ENST00000358768.2_Missense_Mutation_p.P947T|PARD3B_ENST00000351153.1_Missense_Mutation_p.P940T|PARD3B_ENST00000349953.3_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1009					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCCATACCATCCACTGGTTCC	0.428000													18	37					4.26978e-12	4.30784e-12	1	1	0
PLEKHB1	58473	broad.mit.edu	37	11	73366936	73366936	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73366936T>C	ENST00000354190.5	+	6	910	c.479T>C	c.(478-480)gTt>gCt	p.V160A	PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.V141A|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000227214.6_Intron	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	160					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCCTGTAAGGTTGAGAGGCGG	0.652000													9	64					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521106	183521106	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:183521106A>G	ENST00000305135.5	+	26	3760	c.3565A>G	c.(3565-3567)Aaa>Gaa	p.K1189E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1189					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACATTGGAAAAAGGAGAGC	0.488000													8	17					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662408	67662408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67662408C>T	ENST00000264010.4	+	9	2098	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	CTCF_ENST00000401394.1_Missense_Mutation_p.P224S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	552					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.P552S(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACTTCGTCCCTGCGGCTTT	0.498000													77	164					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883076	228883076	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:228883076C>T	ENST00000392056.3	-	7	2540	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E832K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	832						cytoplasm	protein binding			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)		AGATATATTTCCTTGGAGGAT	0.488000													25	157					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488907	17488907	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:17488907C>T	ENST00000400588.1	-	1	205	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	33										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGTGCTTCCGCCGGCGGG	0.677000													4	12					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354081	57354081	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:57354081C>T	ENST00000314922.3	-	2	630	c.554G>A	c.(553-555)aGa>aAa	p.R185K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R185K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	185					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCTCTTGCTCAC	0.502000													27	228					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543007	28543007	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28543007G>A	ENST00000452236.2	-	3	2092	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	492	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			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						CCAGTGTGATGAGTTGTTAGT	0.438000													72	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611050	179611050	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179611050C>T	ENST00000360870.5	-	46	16299	c.16077G>A	c.(16075-16077)atG>atA	p.M5359I	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8872	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTTGAATCCATATTTGGAT	0.338000													13	65					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645671	51645671	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:51645671G>T	ENST00000317643.6	+	1	114	c.45G>T	c.(43-45)agG>agT	p.R15S	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R15S|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R15S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	15					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGGGAGAGGGTGGAAGGAC	0.602000													5	37					0.000602214	0.000603183	1	1	0
EIF4A2	1974	broad.mit.edu	37	3	186502861	186502861	+	Silent	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:186502861T>C	ENST00000323963.5	+	4	383	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L	EIF4A2_ENST00000356531.5_Intron|EIF4A2_ENST00000440191.2_Silent_p.L108L			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	107	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGCACTAGTATTGGCCCCCAC	0.453000			T	BCL6	NHL								53	213					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26959389	26959389	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:26959389C>T	ENST00000381527.3	+	6	1059	c.556C>T	c.(556-558)Cct>Tct	p.P186S	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	186	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		ACCTTTGAAGCCTTTAGCAGA	0.363000													8	65					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157839901	157839901	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:157839901G>A	ENST00000464171.1	+	2	133	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RSRC1_ENST00000480820.1_Missense_Mutation_p.R3H|RSRC1_ENST00000475278.2_Missense_Mutation_p.R3H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R3H|RSRC1_ENST00000295930.3_Missense_Mutation_p.R3H	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	3	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GAAATGGGACGTCGGTCATCA	0.338000													4	50					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156281454	156281454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:156281454G>A	ENST00000311277.4	-	7	1179	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Nonsense_Mutation_p.Q282*|AC097467.2_ENST00000417474.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	306					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GCAGTCACTTGACTTTCCTTG	0.368000													22	110					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042492	74042492	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:74042492G>A	ENST00000409561.1	+	3	1263	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	381										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCCTAATAGGAAATCAAGAT	0.458000													23	37					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418793	51418793	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:51418793G>A	ENST00000266037.9	+	53	5919	c.5896G>A	c.(5896-5898)Gac>Aac	p.D1966N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1966						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATCCCTCAGGACCCCATGGA	0.677000													9	95					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106803608	106803608	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:106803608C>T	ENST00000276185.4	+	10	983	c.983C>T	c.(982-984)tCg>tTg	p.S328L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	328	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CAGAAGATCTCGCTCAAGAAT	0.522000													15	51					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967066	96967066	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:96967066G>A	ENST00000341686.3	+	4	630	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	C10orf129_ENST00000394005.3_Missense_Mutation_p.A169T|C10orf129_ENST00000430183.1_Missense_Mutation_p.A14T	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	169					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGAAGCTATGGCCCCAGTTGT	0.498000													22	100					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91502983	91502983	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:91502983A>G	ENST00000419292.1	-	2	1141	c.1065T>C	c.(1063-1065)acT>acC	p.T355T	MTERF_ENST00000406735.2_Silent_p.T355T|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Silent_p.T375T			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	375	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TGATGTTTAAAGTACTCAAGT	0.323000													52	37					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166721	100166721	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:100166721C>T	ENST00000547776.2	-	8	1106	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	ANKS1B_ENST00000329257.7_Silent_p.G369G|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	369						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCATTTTTCCCAAGTTCTT	0.408000													5	68					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167835597	167835597	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:167835597C>T	ENST00000265293.4	+	7	1308	c.806C>T	c.(805-807)tCg>tTg	p.S269L	WWC1_ENST00000521089.1_Missense_Mutation_p.S269L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	269					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGGAGAGTTCGAGTTTCCCG	0.597000													38	161					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901717	166901717	+	Missense_Mutation	SNP	G	G	A	rs141188608		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166901717G>A	ENST00000423058.2	-	10	1515	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R500W|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R500W|SCN1A_ENST00000409050.1_Missense_Mutation_p.R500W	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	500						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	TTCTTCCTCCGATTTCTTCTT	0.468000													46	291					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481590	35481590	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:35481590C>T	ENST00000308700.6	+	4	1594	c.642C>T	c.(640-642)gtC>gtT	p.V214V	ISX_ENST00000404699.2_Silent_p.V214V	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CACAGCCTGTCCCAGGTCTTC	0.567000													52	137					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208826	67208826	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67208826G>A	ENST00000432069.2	+	5	1170	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NOL3_ENST00000564053.1_Missense_Mutation_p.E262K|NOL3_ENST00000268605.7_Missense_Mutation_p.E200K|NOL3_ENST00000568146.1_Silent_p.S196S	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	0					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		gcccgacttcgaGGAAAGGGA	0.667000													28	49					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121435391	121435391	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:121435391C>T	ENST00000257555.6	+	7	1650	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Missense_Mutation_p.P475L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P475L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P475L|HNF1A_ENST00000538626.1_Missense_Mutation_p.P57L			P20823	HNF1A_HUMAN	HNF1 homeobox A	475					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCAGCAGCCGCTCATGCCA	0.662000									Hepatic Adenoma, Familial Clustering of				9	28					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69688666	69688666	+	Silent	SNP	G	G	A	rs147613223		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:69688666G>A	ENST00000337103.4	+	10	2696	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	C8orf34_ENST00000325233.3_Silent_p.L137L|C8orf34_ENST00000518698.1_Silent_p.L479L|C8orf34_ENST00000539993.1_Silent_p.L393L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	393					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GACACTCACTGAAAAACTACA	0.403000													10	55					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948839	133948839	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:133948839T>A	ENST00000414371.2	+	4	430	c.257T>A	c.(256-258)aTt>aAt	p.I86N	FAM122C_ENST00000370784.4_Missense_Mutation_p.I50N|FAM122C_ENST00000370785.3_Missense_Mutation_p.I50N|FAM122C_ENST00000445123.1_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	50										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					ATGTTAAGAATTAGGACAAAC	0.328000													15	177					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149719	202149719	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:202149719G>A	ENST00000358485.4	+	8	1356	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	CASP8_ENST00000432109.2_Missense_Mutation_p.G328E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.G244E|CASP8_ENST00000264275.5_Missense_Mutation_p.G345E|CASP8_ENST00000323492.7_Missense_Mutation_p.G313E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	328					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGCACTGATGGACAGGAGGCC	0.468000										HNSCC(4;0.00038)			64	167					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16962001	16962001	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:16962001G>A	ENST00000318063.5	+	10	1127		c.e10+1		MICU3_ENST00000519866.1_Splice_Site	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.?(1)									ATTTTTATAGGTGAGCttatt	0.308000													14	48					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605627	54605627	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:54605627C>T	ENST00000371330.1	-	4	1763	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	306	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGTTGGGCTCCTCCAGGTCC	0.632000													23	32					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81218086	81218086	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:81218086G>A	ENST00000394685.3	+	19	2829	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D804N|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D804N			Q8WUJ3	K1199_HUMAN	KIAA1199	804										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGTGTGGCTGGACAGCTGCCG	0.647000													6	35					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449483	104449483	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:104449483C>T	ENST00000361820.3	-	2	1300		c.e2-1			NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAAGGGGATTCTGTATTTAAA	0.338000													25	71					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507993	39507993	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:39507993G>A	ENST00000287152.7	-	13	1525	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	KIF6_ENST00000373216.3_Silent_p.I477I|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.I477I|KIF6_ENST00000373213.4_Silent_p.I316I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	477					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTTGACCAGGATATCTGAAA	0.398000													14	119					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68715390	68715390	+	Missense_Mutation	SNP	G	G	A	rs150886543		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:68715390G>A	ENST00000303145.7	-	6	906	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	MDM1_ENST00000411698.2_Missense_Mutation_p.R229C|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	274						nucleus		p.R274C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AATTTTAAACGATCGTCTATT	0.308000													18	9					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653326	159653326	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:159653326G>A	ENST00000297267.9	+	11	1982	c.1782G>A	c.(1780-1782)agG>agA	p.R594R	FNDC1_ENST00000340366.6_Silent_p.R531R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	594						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCCCCGAAGGGAAGGCGTAG	0.701000													5	17					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432914	111432914	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:111432914C>T	ENST00000393934.3	+	3	1375	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PLCXD2_ENST00000477665.1_Missense_Mutation_p.P269S|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	269					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GATCCTCACCCCCAGAGTGAA	0.537000													30	65					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123265710	123265710	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123265710G>A	ENST00000253079.6	+	3	573		c.e3-1		CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62							cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTTCCCTCAGGTGAACTACA	0.353000													11	77					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25261734	25261734	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:25261734C>T	ENST00000216962.4	+	11	1499	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	463					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACTCGGAGATCGTGAAACAGT	0.607000													23	156					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628026	19628026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:19628026C>T	ENST00000438132.3	+	14	1435	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q224*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q374*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q123*|C16orf62_ENST00000417362.2_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	374						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGATACGGTCCAGAACCAGCT	0.512000													12	57					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186300545	186300545	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:186300545C>T	ENST00000439351.1	+	8	1652	c.723C>T	c.(721-723)ttC>ttT	p.F241F	DNAJB11_ENST00000265028.3_Silent_p.F241F			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	241					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ATTTACGGTTCCGAATCAAAG	0.398000													9	17					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:33560122C>T	ENST00000228567.3	-	3	975	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_ENST00000535526.1_Missense_Mutation_p.E46K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000													22	90					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918064	39918064	+	Silent	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:39918064C>A	ENST00000337304.2	+	2	1395	c.513C>A	c.(511-513)tcC>tcA	p.S171S	ATF4_ENST00000396680.1_Silent_p.S171S|ATF4_ENST00000404241.2_Silent_p.S171S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	171					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GGGTCCTGTCCTCCACTCCAG	0.502000													55	152					1.48341e-19	1.50272e-19	1	1	0
OR52D1	390066	broad.mit.edu	37	11	5510515	5510515	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5510515C>T	ENST00000322641.5	+	1	601	c.579C>T	c.(577-579)gcC>gcT	p.A193A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTGTGCCAACATCACTG	0.517000													45	220					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127808387	127808387	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:127808387G>A	ENST00000316724.5	-	17	1974	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	BIN1_ENST00000348750.4_Silent_p.F337F|BIN1_ENST00000351659.3_Silent_p.F434F|BIN1_ENST00000357970.3_Silent_p.F478F|BIN1_ENST00000409400.1_Silent_p.F367F|BIN1_ENST00000346226.3_Silent_p.F446F|BIN1_ENST00000393040.3_Silent_p.F410F|BIN1_ENST00000393041.3_Silent_p.F403F|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000352848.3_Silent_p.F382F|BIN1_ENST00000259238.4_Silent_p.F425F|BIN1_ENST00000376113.2_Silent_p.F352F	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	521	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTTGAACATGAAACCTGGGG	0.632000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	143					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209910	209910	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:209910C>T	ENST00000526104.1	+	3	1980	c.636C>T	c.(634-636)ctC>ctT	p.L212L	RIC8A_ENST00000325207.5_Silent_p.L212L|RIC8A_ENST00000527696.1_Silent_p.L206L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	212						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCCACGCTCCTTCCTTCCC	0.597000													44	50					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710294	52710294	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:52710294C>T	ENST00000293670.3	-	6	1061	c.999G>A	c.(997-999)atG>atA	p.M333I		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	333	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATGCGGTTCA	0.612000													15	78					0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158314672	158314672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:158314672C>T	ENST00000359117.5	+	3	378	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	MLF1_ENST00000392822.3_Nonsense_Mutation_p.Q104*|MLF1_ENST00000471745.1_Nonsense_Mutation_p.Q63*|MLF1_ENST00000355893.5_Nonsense_Mutation_p.Q73*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.Q48*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.Q63*|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Nonsense_Mutation_p.Q48*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.Q48*	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	73					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAGCTCTTTCCAGACAATGGA	0.328000			T	NPM1	AML								9	20					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024370	24024370	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:24024370G>A	ENST00000328046.8	-	3	696	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	147	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGACTCCCTCGATGTTTACGC	0.438000													17	148					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586690	179586690	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179586690C>T	ENST00000589042.1	-	78	22924	c.22700G>A	c.(22699-22701)gGa>gAa	p.G7567E	TTN_ENST00000342992.6_Missense_Mutation_p.G6323E|TTN_ENST00000591111.1_Missense_Mutation_p.G7250E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7250	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGTGTTTCCCACACATGT	0.428000													81	250					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133622720	133622720	+	Missense_Mutation	SNP	C	C	T	rs146653246		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:133622720C>T	ENST00000253861.4	+	14	2133	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	EXOC4_ENST00000545148.1_Missense_Mutation_p.R312C|EXOC4_ENST00000539845.1_Missense_Mutation_p.R601C|EXOC4_ENST00000541309.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	702					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGACATCCTTCGTGACGTCAG	0.458000													29	257					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538501	152538501	+	Nonsense_Mutation	SNP	G	G	A	rs140473829		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:152538501G>A	ENST00000368789.1	-	2	239	c.184C>T	c.(184-186)Cga>Tga	p.R62*		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	62					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGC	0.682000													86	73					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120740002	120740002	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:120740002C>T	ENST00000310396.5	+	7	1239	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CPED1_ENST00000450913.2_Missense_Mutation_p.P258S|CPED1_ENST00000423795.1_Missense_Mutation_p.P38S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGTCCTTGCTCCACATGAAAC	0.378000													12	104					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954801	72954801	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:72954801G>A	ENST00000425042.2	-	10	1284	c.1207C>T	c.(1207-1209)Ctc>Ttc	p.L403F		NM_030630.2	NP_085133.1			HID1 domain containing																		AGGAAGAAGAGGATGGGGACA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	90					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147600	118147600	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:118147600G>A	ENST00000456015.2	+	1	34	c.34G>A	c.(34-36)Gat>Aat	p.D12N	SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	12					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTTGTGAATGATAAAGCTGC	0.418000													72	145					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154895	5154895	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:5154895G>A	ENST00000252321.3	+	1	1811	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	528						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCGGGAAACGGATCACGAGGA	0.642000													38	62					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953426	8953426	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8953426C>T	ENST00000595891.1	+	3	303	c.72C>T	c.(70-72)acC>acT	p.T24T	MBD3L1_ENST00000305625.2_Silent_p.T24T			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	24	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCTTGAGCACCTCAATCCCTT	0.448000													7	62					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:71275406C>T	ENST00000395275.2	-	6	961	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T|CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000395276.2_Silent_p.T149T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000													18	183					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115575	168115575	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:168115575C>T	ENST00000409728.1	+	11	2707	c.2618C>T	c.(2617-2619)aCc>aTc	p.T873I	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.T840I|XIRP2_ENST00000409756.2_Missense_Mutation_p.T840I|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.T618I|XIRP2_ENST00000420519.1_Missense_Mutation_p.T873I	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.T873N(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						TTTTCTAACACCGTGAAAATC	0.308000													8	40					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196514	207196514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:207196514G>A	ENST00000359470.5	-	4	844	c.595C>T	c.(595-597)Cct>Tct	p.P199S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	199						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TCTGGCGGAGGGATGAGCACC	0.662000													88	93					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482447	152482447	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:152482447G>A	ENST00000356661.5	-	3	782	c.564C>T	c.(562-564)atC>atT	p.I188I		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	188	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCATGATCTGATTAT	0.542000													64	176					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891347	44891347	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44891347C>T	ENST00000330997.4	-	4	1124	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	ZNF285_ENST00000591679.1_Missense_Mutation_p.G361R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G354R	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GACCTAAATCCAAACCCTTTC	0.488000													17	84					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354660	31354660	+	Missense_Mutation	SNP	G	G	A	rs147613921		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:31354660G>A	ENST00000460581.2	+	8	1004	c.458G>A	c.(457-459)gGg>gAg	p.G153E	COCH_ENST00000216361.4_Missense_Mutation_p.G265E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Missense_Mutation_p.G265E|COCH_ENST00000382493.4_Missense_Mutation_p.G116E|COCH_ENST00000475087.1_Missense_Mutation_p.G265E			O43405	COCH_HUMAN	cochlin	265					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GTAAGAAAAGGGATCCCCAAA	0.413000													33	116					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694597	43694597	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:43694597C>T	ENST00000395809.1	-	8	3401	c.895G>A	c.(895-897)Gat>Aat	p.D299N	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D307N|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D299N			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	299	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CGGGCCACATCAATGAAGAAC	0.602000													17	20					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751942	26751942	+	Missense_Mutation	SNP	G	G	A	rs141345172		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:26751942G>A	ENST00000326279.6	+	3	491	c.377G>A	c.(376-378)gGa>gAa	p.G126E	LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	126					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CGGCCAAAAGGAAAGAGCATG	0.512000													38	164					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9579864	9579864	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9579864C>T	ENST00000301480.4	-	9	743		c.e9-1			NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTTTCCATTCTGAAATAAAA	0.289000													7	29					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362289	101362289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:101362289T>A	ENST00000344327.3	-	3	1550	c.1126A>T	c.(1126-1128)Aaa>Taa	p.K376*	TRPC6_ENST00000360497.4_Nonsense_Mutation_p.K376*|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.K376*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	376					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GACCTTACTTTTTTTACTTCA	0.408000													146	123					0	0	1	0	0
NUTM2A	728118	broad.mit.edu	37	10	88994204	88994204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:88994204G>A	ENST00000381707.2	+	7	2759	c.2376G>A	c.(2374-2376)tgG>tgA	p.W792*	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron	NM_001099338.1	NP_001092808.1			NUT family member 2A																		CAGAAAAGTGGGGACCCCAGG	0.597000													7	36					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3664862	3664862	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3664862G>A	ENST00000335312.3	-	3	265	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.G59G|PIP5K1C_ENST00000537021.1_Silent_p.G59G|PIP5K1C_ENST00000589578.1_Silent_p.G59G	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	59					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CACCTCGATGGCCCAACTTCT	0.632000													15	98					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52551645	52551645	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:52551645C>T	ENST00000262094.5	+	4	842	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RAB27B_ENST00000586594.1_Intron	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AACAGAGCTTCTTAAATGTCA	0.468000													13	96					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26084282	26084282	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:26084282G>A	ENST00000313735.6	-	27	3685	c.3452C>T	c.(3451-3453)tCa>tTa	p.S1151L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1151					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCAGAGCGCTGACATCTCCAG	0.562000											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473519	179473519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179473519C>T	ENST00000589042.1	-	274	52443	c.52219G>A	c.(52219-52221)Gaa>Aaa	p.E17407K	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14839K|TTN_ENST00000591111.1_Missense_Mutation_p.E15766K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8467K|TTN_ENST00000460472.2_Missense_Mutation_p.E8342K|TTN_ENST00000342175.6_Missense_Mutation_p.E8534K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15766	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTTTCCAAAGTGTAG	0.363000													28	63					0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021239	142021239	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142021239G>A	ENST00000390381.3	+	0	528																											GTGAGACACAGAGAAACAAAG	0.537000													5	55					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189074	140189074	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140189074G>A	ENST00000530339.1	+	1	2302	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D768N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D768N	NM_018907.2	NP_061730.1														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)			ACCCAAGACCGACCTCATGGC	0.582000													21	115					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698054	34698054	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:34698054C>T	ENST00000360581.1	+	1	158	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NPSR1_ENST00000381553.3_Silent_p.F10F|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Silent_p.F10F|NPSR1_ENST00000381539.3_Silent_p.F10F|NPSR1_ENST00000359791.1_Silent_p.F10F|NPSR1_ENST00000531252.1_Silent_p.F10F|NPSR1_ENST00000465305.1_Silent_p.F10F|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	10						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGGGCAGCTTCGATTCCAGTG	0.572000													18	76					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109871385	109871385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:109871385G>A	ENST00000424296.2	-	25	2948	c.2872C>T	c.(2872-2874)Cga>Tga	p.R958*	AK9_ENST00000341338.6_Nonsense_Mutation_p.R37*|AK9_ENST00000355283.1_Nonsense_Mutation_p.R37*	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATCTTTTCTCGATACTTGGCT	0.428000													29	125					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1517262	1517262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:1517262C>T	ENST00000389470.4	-	36	5458	c.5459G>A	c.(5458-5460)tGg>tAg	p.W1820*	INTS1_ENST00000404767.3_Nonsense_Mutation_p.W1621*			Q8N201	INT1_HUMAN	integrator complex subunit 1	1621					snRNA processing	integral to membrane|integrator complex|nuclear membrane				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)		CATTTCCAGCCAGTCCACTAG	0.692000													4	14					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850750	207850750	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:207850750G>A	ENST00000508064.2	+	2	174	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	38	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAATGTCCCGGAATGGCTTC	0.398000													75	72					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141055537	141055537	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141055537C>T	ENST00000389484.3	-	84	13778	c.12805_splice	c.e84-1	p.G4269_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4269	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTGGGTCTCCCTATTGGAA	0.398000										TSP Lung(27;0.18)			32	185					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189018259	189018259	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:189018259A>G	ENST00000512729.1	-	6	925	c.551T>C	c.(550-552)tTa>tCa	p.L184S	TRIML2_ENST00000326754.3_Missense_Mutation_p.L209S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	184	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TATGTGGCATAAACTCAGGTC	0.493000													20	136					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166758373	166758373	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166758373C>T	ENST00000243344.7	-	20	2753	c.2616G>A	c.(2614-2616)caG>caA	p.Q872Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	872						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTGCATCTGGCTGTTCCATCT	0.358000													20	80					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44586195	44586195	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44586195C>T	ENST00000421176.3	+	4	388	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGATACTTTTCACTTCCAAAG	0.403000													21	91					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055622	49055622	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49055622G>A	ENST00000341949.4	-	2	301	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000313778.5_5'UTR|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.L99F	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	99					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGGCGCTGAGGACGCGCTCG	0.741000													4	3					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600626	31600626	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:31600626T>G	ENST00000170150.3	+	4	416	c.221T>G	c.(220-222)gTc>gGc	p.V74G		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	74						extracellular region	lipid binding										ATTCTGAATGTCCATGTGCCC	0.537000													70	214					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021632	132021632	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:132021632G>A	ENST00000356920.5	+	15	2698	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	868	Actin-like.						ATP binding										TCTATGAGGGGAATGCCCTCC	0.617000													29	105					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647334	32647334	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:32647334G>A	ENST00000394620.1	+	2	589	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	41					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGATCAATAGGAAAATTCCTA	0.448000													8	50					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254946	51254946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:51254946C>T	ENST00000404971.1	-	2	1805	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	NRXN1_ENST00000406859.3_Missense_Mutation_p.G156R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G156R|NRXN1_ENST00000405581.1_Missense_Mutation_p.G156R|NRXN1_ENST00000406316.2_Missense_Mutation_p.G156R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G156R|NRXN1_ENST00000401669.2_Missense_Mutation_p.G156R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	156	Laminin G-like 1.				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			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)			GGCAGCCCCCCGACGAAAAGG	0.662000													9	27					0	0	1	0	0
STK26	51765	broad.mit.edu	37	X	131203653	131203653	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:131203653G>A	ENST00000394334.2	+	7	998	c.745G>A	c.(745-747)Gag>Aag	p.E249K	MST4_ENST00000481105.1_Missense_Mutation_p.E271K|MST4_ENST00000394335.2_Missense_Mutation_p.E172K|MST4_ENST00000354719.6_Missense_Mutation_p.E249K|MST4_ENST00000496850.1_Intron	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		249	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTTAAGGAGTTTATTGA	0.338000													7	29					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803421	20803421	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:20803421C>T	ENST00000359062.3	+	14	2852	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	938	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGAAAATGATCGTCTACTGGT	0.323000													30	46					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599031	57599031	+	Splice_Site	SNP	C	C	T	rs138595744		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57599031C>T	ENST00000243077.3	+	73	11800	c.11335_splice	c.e73+1	p.I3778_splice		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3778	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTGCAGCATCGGTGAGGCCC	0.672000													10	91					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762074	43762074	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43762074G>A	ENST00000263801.3	-	11	1608	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	TP53BP1_ENST00000450115.2_Silent_p.S457S|TP53BP1_ENST00000382044.4_Silent_p.S457S|TP53BP1_ENST00000382039.3_Silent_p.S457S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	452					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGAGGCTGGGATGGGATAG	0.428000								Other conserved DNA damage response genes					38	111					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482815	76482815	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76482815G>A	ENST00000307431.8	+	7	1276	c.891G>A	c.(889-891)cgG>cgA	p.R297R	CNTNAP4_ENST00000377504.4_Silent_p.R297R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.R273R|CNTNAP4_ENST00000476707.1_Silent_p.R301R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	298	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCCATGCACGGGGAGAATTCA	0.413000													3	27					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828197	55828197	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:55828197G>A	ENST00000326652.4	-	7	644	c.462C>T	c.(460-462)ctC>ctT	p.L154L	TMEM150B_ENST00000438693.1_Silent_p.L154L			A6NC51	T150B_HUMAN	transmembrane protein 150B	154						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GGCCCAGGCGGAGGGGCCCAA	0.612000													7	15					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107147220	107147220	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:107147220G>A	ENST00000262843.6	+	4	1397	c.849G>A	c.(847-849)atG>atA	p.M283I	MID2_ENST00000443968.2_Missense_Mutation_p.M283I|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	283						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAAACTTATGGAAGAATGTG	0.433000													16	78					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739621	41739621	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:41739621C>T	ENST00000242208.4	-	2	598	c.352G>A	c.(352-354)Gag>Aag	p.E118K	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E118K|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	118					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			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						GAGGTCTGCTCCATAAGTTCA	0.527000										TSP Lung(11;0.080)			136	373					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107052662	107052662	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:107052662C>T	ENST00000409886.3	-	12	1762	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E559K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	559					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTGTTTATTTCATGCTGAACT	0.358000													22	129					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39308225	39308225	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:39308225G>A	ENST00000381897.1	-	14	2118	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	RFC1_ENST00000349703.2_Missense_Mutation_p.S661F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	662					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACACACCAGGGAAGCTGTGGT	0.512000													8	32					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2185559	2185559	+	Silent	SNP	G	G	A	rs118175546	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:2185559G>A	ENST00000381178.1	-	14	1509	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	TH_ENST00000333684.5_Silent_p.I376I|TH_ENST00000381175.1_Silent_p.I493I|TH_ENST00000352909.3_Silent_p.I466I	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	497					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAGCACGTCGATGGCCAGCG	0.667000													11	47					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888901	38888901	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38888901C>T	ENST00000450244.1	-	26	4858	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D1554N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1554					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCAGGGAATCCCAACCTGCT	0.468000													24	95					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299361	25299361	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25299361C>T	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA																							GTGCTTGGATCGATGATGAGT	0.493000													40	188					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264798	123264798	+	Silent	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:123264798T>C	ENST00000451558.1	+	10	1148	c.627T>C	c.(625-627)ttT>ttC	p.F209F	ASB15_ENST00000540573.1_Silent_p.F209F|ASB15_ENST00000434204.1_Silent_p.F209F|ASB15_ENST00000275699.3_Silent_p.F209F|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Silent_p.F209F			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	209					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGATGGATTTGGAGTCACAC	0.488000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	115					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205555197	205555197	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:205555197G>A	ENST00000367147.4	+	6	1104	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	MFSD4_ENST00000536357.1_Silent_p.V250V|MFSD4_ENST00000539267.1_Silent_p.V337V	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	337					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTATGCTGTGGAGAAGCCCC	0.602000													9	44					0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87994566	87994566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:87994566C>T	ENST00000525899.1	-	3	410	c.65G>A	c.(64-66)tGg>tAg	p.W22*	GJB7_ENST00000296882.3_Nonsense_Mutation_p.W22*	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	22					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CAGCCAAATCCATCCAGTCCC	0.468000													12	93					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120260703	120260703	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:120260703G>A	ENST00000392521.2	-	9	1087	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	CIT_ENST00000261833.7_Silent_p.G344G	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	344	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTCTTTCTGGCCGCACAACA	0.393000													31	97					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659245	121659245	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:121659245G>A	ENST00000489711.1	+	21	2311	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.M610I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	641					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTCTAGCATGAAATCTGTGC	0.498000													24	73					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365769	36365769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36365769C>T	ENST00000221891.4	+	10	1534	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Nonsense_Mutation_p.Q442*|APLP1_ENST00000537454.2_Nonsense_Mutation_p.Q409*	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	448	Collagen-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GATGCGCTTCCAGGTGCTCAC	0.612000													15	22					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563178	125563178	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125563178C>T	ENST00000277309.2	+	1	809	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCATTGCAGTCTACTTCCAGG	0.617000													33	169					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158225110C>T	ENST00000289429.5	+	2	828	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	99					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000													47	41					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27423917	27423917	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27423917G>A	ENST00000310574.3	-	16	2186	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	SLC5A6_ENST00000408041.1_Silent_p.S571S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	571					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	ACGGAAGGAGGGACAGGAGCT	0.577000													9	54					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286268	79286268	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79286268G>A	ENST00000442340.1	+	9	1351	c.861G>A	c.(859-861)atG>atA	p.M287I	TBX22_ENST00000373294.5_Missense_Mutation_p.M407I|TBX22_ENST00000373291.1_Missense_Mutation_p.M287I|TBX22_ENST00000373296.3_Missense_Mutation_p.M407I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	407					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCCACTCATGATGGAAGTGC	0.443000													94	210					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60986000	60986000	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:60986000G>A	ENST00000252998.1	-	14	2085	c.1929C>T	c.(1927-1929)ccC>ccT	p.P643P		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TTGGGCTCCCGGGCCCCTCAG	0.662000													46	103					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595812	3595812	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3595812G>A	ENST00000589966.1	-	2	551	c.517C>T	c.(517-519)Cct>Tct	p.P173S	TBXA2R_ENST00000411851.3_Silent_p.I302I|TBXA2R_ENST00000375190.4_Silent_p.I302I			P21731	TA2R_HUMAN	thromboxane A2 receptor	0					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGGGTCCAGGATCTGGTTCC	0.692000													4	17					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36808935	36808935	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:36808935G>A	ENST00000359297.2	-	9	1126	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	STK40_ENST00000373130.3_Intron|STK40_ENST00000373132.3_Intron|STK40_ENST00000373129.3_Intron			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	373						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTGGGGCTGGGTAATGGCCCA	0.597000													14	7					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974717	20974717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20974717C>T	ENST00000261383.3	-	53	10488	c.10489G>A	c.(10489-10491)Gga>Aga	p.G3497R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3497	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACAGCTTTCCCATATGTTCA	0.488000													7	63					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793014	102793014	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:102793014C>T	ENST00000410023.1	+	12	1823	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.S471L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.S502L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	502	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	p.S502L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATGCCAGAATCGATTAAATTC	0.433000													21	46					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073478	73073478	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73073478G>A	ENST00000263674.3	+	14	5045	c.4694_splice	c.e14-1	p.R1565_splice		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1565					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTTCTCGCAGGGAGCCTCCTC	0.736000													16	14					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:45461956C>T	ENST00000303230.4	-	3	1060	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000													8	48					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952509	120952509	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:120952509C>T	ENST00000273666.6	+	12	1429	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STXBP5L_ENST00000472879.1_Silent_p.L386L|STXBP5L_ENST00000497029.1_Silent_p.L386L|STXBP5L_ENST00000492541.1_Silent_p.L386L|STXBP5L_ENST00000471454.1_Silent_p.L386L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	386					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAGATCTCATTGTAGTTG	0.279000													9	50					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917300	26917300	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:26917300G>A	ENST00000539517.2	-	5	1706	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	NOVA1_ENST00000267422.7_Silent_p.F341F|NOVA1_ENST00000465357.2_Silent_p.F439F	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	466	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			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)		TGCCAGGTACGAATTCTCCTT	0.423000													16	49					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950649	235950649	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:235950649C>T	ENST00000409212.1	+	4	1743	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	SH3BP4_ENST00000392011.2_Silent_p.G412G|SH3BP4_ENST00000344528.4_Silent_p.G412G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	412					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCACAGTGGGCCTCCAGTGCC	0.537000													13	48					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10254918	10254918	+	Missense_Mutation	SNP	G	G	A	rs35365223		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:10254918G>A	ENST00000256458.4	+	5	646	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	186					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			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCTAAGCAGGAAAAACTTTT	0.498000													18	77					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99483948	99483948	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:99483948C>T	ENST00000376460.1	-	40	4418	c.4338G>A	c.(4336-4338)acG>acA	p.T1446T	DOCK9_ENST00000339416.2_Silent_p.T1447T|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1447					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTTAAAGCCGTTTCAGACT	0.393000													16	37					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013661	99013661	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:99013661C>T	ENST00000393504.1	+	8	2445	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000272602.2_Silent_p.P676P|CNGA3_ENST00000436404.2_Silent_p.P658P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	676					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGACAAGCCCCTGGCTGATG	0.557000													8	61					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369571	56369571	+	Missense_Mutation	SNP	C	C	T	rs147621156		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56369571C>T	ENST00000301295.6	+	3	1234	c.812C>T	c.(811-813)cCg>cTg	p.P271L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P196L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P271L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	271	NACHT.						ATP binding	p.P271L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGATGCTCCCGGAGGCCTCC	0.582000													39	77					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271945	137271945	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:137271945G>A	ENST00000453654.1	-	13	962	c.423C>T	c.(421-423)atC>atT	p.I141I	DGKI_ENST00000288490.5_Silent_p.I441I|DGKI_ENST00000424189.2_Silent_p.I441I|DGKI_ENST00000446122.1_Silent_p.I441I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	441					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGATGGAAAGGATCCAGCCCA	0.517000													9	103					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135469994	135469994	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135469994G>A	ENST00000394143.1	+	16	8163	c.7872G>A	c.(7870-7872)acG>acA	p.T2624T	GPR112_ENST00000412101.1_Silent_p.T2419T|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.T2419T|GPR112_ENST00000370652.1_Silent_p.T2624T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2624					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					ACTTACAAACGATCTTGTTTA	0.398000													59	150					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154021	41154021	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41154021G>A	ENST00000263413.3	-	15	2445	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	C6_ENST00000337836.5_Silent_p.S727S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	727	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTAGCTCAATGGATTCACCAA	0.473000													25	68					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:125834288C>T	ENST00000299308.3	+	2	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	115						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACAAATTTCCCTTCAACTG	0.468000													90	126					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228897	3228897	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3228897G>A	ENST00000217939.6	-	7	7501	c.7347C>T	c.(7345-7347)atC>atT	p.I2449I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2449	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACAGTGGTGATGGGGTTGG	0.587000													13	61					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873482	24873482	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:24873482G>A	ENST00000396432.2	-	26	6222	c.5736C>T	c.(5734-5736)tcC>tcT	p.S1912S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1911					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGTGGTATGGAAAGAAGGG	0.488000													23	116					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190780	104190780	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:104190780G>A	ENST00000392876.3	-	6	685	c.645C>T	c.(643-645)ttC>ttT	p.F215F	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	215							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGTCCATGAACTGCTTCA	0.522000													22	119					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000803	41000803	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41000803C>T	ENST00000399564.4	-	38	4777	c.4327G>A	c.(4327-4329)Gat>Aat	p.D1443N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D998N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGTTGGGATCCCAAAGGTGC	0.478000													4	25					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71158482	71158482	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:71158482C>T	ENST00000283228.2	-	3	886	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PTPRR_ENST00000342084.4_Missense_Mutation_p.G33E	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	145					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTAAGAGTCCTAAAGCTGC	0.413000													12	103					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054287	21054287	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:21054287G>A	ENST00000381545.3	+	15	1970	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G584E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G584E|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.G584E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	584					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTTGCAGGAGGAATTCTAGCT	0.363000													23	141					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807084	233807084	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:233807084G>A	ENST00000366621.3	+	3	987	c.819G>A	c.(817-819)ctG>ctA	p.L273L	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.L157L	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	273						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCATGAGCTGAAAAAATTCA	0.448000													26	90					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919221	46919221	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:46919221G>C	ENST00000258947.3	+	2	253	c.152G>C	c.(151-153)cGt>cCt	p.R51P	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.R51P|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.R51P|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.R51P|CALCOCO2_ENST00000508679.1_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	51					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTCATCCCTCGTCGAAAGGAT	0.433000													12	100					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159514625	159514625	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:159514625C>T	ENST00000307765.5	+	3	511	c.260C>T	c.(259-261)cCt>cTt	p.P87L	RXFP1_ENST00000460056.2_Missense_Mutation_p.P6L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P6L|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000423548.1_Missense_Mutation_p.P87L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P87L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	87						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCCCAATATCCTTTTGAGGCA	0.318000													14	34					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692215	31692215	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:31692215G>A	ENST00000319386.3	+	14	3456	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	CCDC129_ENST00000409210.1_Silent_p.Q877Q|CCDC129_ENST00000407970.3_Silent_p.Q969Q|CCDC129_ENST00000451887.2_Silent_p.Q995Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	969	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAATGGGCAGACTTCATGTT	0.502000													13	31					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640685	57640685	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:57640685G>A	ENST00000254181.4	+	4	1096	c.642G>A	c.(640-642)gaG>gaA	p.E214E	USP29_ENST00000598197.1_Silent_p.E214E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	214					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		CAAGTTTAGAGGATTTAGAAA	0.368000													16	97					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779204	137779204	+	Silent	SNP	G	G	A	rs150154280	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:137779204G>A	ENST00000350339.2	+	7	785	c.771G>A	c.(769-771)tcG>tcA	p.S257S	FCN2_ENST00000291744.6_Silent_p.S295S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	295	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537000													27	69					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21249823	21249823	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:21249823C>T	ENST00000233242.1	-	15	2208	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	APOB_ENST00000399256.4_Missense_Mutation_p.G694E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	694					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			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)	AAAGCCTTTTCCTTCCAAGCC	0.418000													21	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062445	9062445	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9062445G>A	ENST00000397910.4	-	3	25204	c.25001C>T	c.(25000-25002)aCc>aTc	p.T8334I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8336	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TTCCAAAGTGGTCAGTCTCTC	0.493000													15	130					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081964	104081964	+	Missense_Mutation	SNP	G	G	A	rs144650963	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:104081964G>A	ENST00000388887.2	+	28	3220	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1006	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTTCTCTCCGAAGCAGCTAT	0.373000													67	74					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128475388	128475388	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:128475388G>A	ENST00000325888.8	+	2	622	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	FLNC_ENST00000346177.6_Missense_Mutation_p.A121T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	121	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGACAGCAAGGCCATCGTGGA	0.637000													11	160					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158813902C>T	ENST00000368141.4	+	4	821	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	187					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			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)					TCCAACACTTCGTTTACTCCG	0.493000													29	157					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076945	108076945	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:108076945G>A	ENST00000357759.5	+	6	1354	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	HHLA2_ENST00000467761.1_Missense_Mutation_p.E314K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E250K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E314K|HHLA2_ENST00000491820.1_Missense_Mutation_p.E314K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	314	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGACAGTGGGGAATATTTATG	0.363000													38	73					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452580	64452580	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:64452580T>A	ENST00000394323.2	-	2	1325	c.825A>T	c.(823-825)ttA>ttT	p.L275F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		275						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gttgggcgaataaattactgg	0.498000													17	112					0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214454717	214454717	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:214454717C>T	ENST00000366957.5	+	1	142	c.120C>T	c.(118-120)gcC>gcT	p.A40A	SMYD2_ENST00000415093.2_Silent_p.A40A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	40					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CGGCCTATGCCTACGTGCTCA	0.736000													11	17					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417170	150417170	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150417170C>T	ENST00000307194.5	+	3	218	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGGAGTCCACGCGGAGGC	0.552000													43	495					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640777	179640777	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179640777G>A	ENST00000589042.1	-	28	6038	c.5814C>T	c.(5812-5814)gtC>gtT	p.V1938V	TTN_ENST00000342992.6_Silent_p.V1938V|TTN_ENST00000591111.1_Silent_p.V1938V|TTN_ENST00000360870.5_Silent_p.V1938V|TTN_ENST00000359218.5_Silent_p.V1892V|TTN_ENST00000460472.2_Silent_p.V1892V|TTN_ENST00000342175.6_Silent_p.V1892V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1670							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1892V(3)|p.V1938V(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)			CTCTCCTAAGGACAGACCTAA	0.453000													79	237					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375200	2375200	+	Missense_Mutation	SNP	C	C	T	rs140181785	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:2375200C>T	ENST00000202625.2	+	2	171	c.110C>T	c.(109-111)tCg>tTg	p.S37L	TGM6_ENST00000381423.1_Missense_Mutation_p.S37L|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	37					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S37*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGGGCCAGTCGTTCAGCCTC	0.617000													6	32					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691928	31691928	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:31691928G>A	ENST00000360542.3	-	1	679	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	142						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGGGGCGATAGGCATTGGGCA	0.552000													84	252					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018251	51018251	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:51018251A>G	ENST00000406938.2	-	9	1153	c.936T>C	c.(934-936)ttT>ttC	p.F312F	CHKB-CPT1B_ENST00000452668.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	312					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AATGACGAATAAAATGCAACT	0.488000													44	146					0	0	1	0	0
YBX3	8531	broad.mit.edu	37	12	10856686	10856686	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:10856686A>G	ENST00000228251.4	-	7	1042	c.842T>C	c.(841-843)gTt>gCt	p.V281A	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.V212A	NM_003651.4	NP_003642.3			Y box binding protein 3																		ATTTCGATGAACCGGTCCCTG	0.507000													25	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062037	9062037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9062037G>A	ENST00000397910.4	-	3	25612	c.25409C>T	c.(25408-25410)tCa>tTa	p.S8470L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8472	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GATGTCTGGTGATATGGTGAA	0.498000													36	241					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53853069	53853069	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:53853069C>A	ENST00000603815.1	+	6	607	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	PCBP2_ENST00000541275.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000552819.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000552296.2_Missense_Mutation_p.S86Y|PCBP2_ENST00000359462.5_Missense_Mutation_p.S86Y|PCBP2_ENST00000359282.5_Missense_Mutation_p.S86Y|PCBP2_ENST00000546463.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000455667.3_Missense_Mutation_p.S86Y|PCBP2_ENST00000439930.3_Missense_Mutation_p.S86Y|PCBP2_ENST00000437231.1_Missense_Mutation_p.S86Y|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000548933.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000549863.1_Missense_Mutation_p.S86Y	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	86					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAAGCAGCTCTATGACCAAT	0.483000													54	126					2.01807e-28	2.04767e-28	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647413	33647413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:33647413C>T	ENST00000558425.1	-	2	186	c.187G>A	c.(187-189)Gga>Aga	p.G63R																								CACTCCAGTCCCTTCCCTGGA	0.532000													55	381					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377986	31377986	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:31377986G>A	ENST00000297142.3	-	2	1219	c.897C>T	c.(895-897)ccC>ccT	p.P299P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	299					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGCCCAAGGGGACCCCTGG	0.473000													15	87					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210501	30210501	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:30210501C>T	ENST00000518096.1	+	0	1113																											TGAAGGAGGTCGATGAGCAGA	0.542000													38	106					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980716	14980716	+	Silent	SNP	C	C	T	rs147492209	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:14980716C>T	ENST00000287667.7	+	28	3492	c.3321C>T	c.(3319-3321)ggC>ggT	p.G1107G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1107						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCAGAGACGGCGAGGTAATGC	0.463000													44	246					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108002	17108002	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17108002G>A	ENST00000443236.1	-	11	1186	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	CPAMD8_ENST00000388925.4_Silent_p.P338P	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	338						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCTGCACGGGGGTGGAGT	0.642000													9	43					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1342378	1342378	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1342378G>A	ENST00000482352.1	-	2	181	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	MRPL20_ENST00000344843.7_Missense_Mutation_p.R37C			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	37							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGTAGCAGCGATTTTTCCTT	0.597000													69	224					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758545	99758545	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99758545G>A	ENST00000360039.4	-	4	859	c.467C>T	c.(466-468)tCc>tTc	p.S156F	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P55S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P55S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S156F|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S94F	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	156					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGGACAATGGAAAAAAAGAA	0.522000													7	101					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413000													13	246					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976804	106976804	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:106976804G>A	ENST00000369701.3	+	19	2885	c.2658G>A	c.(2656-2658)gcG>gcA	p.A886A	SORCS3_ENST00000369699.4_Silent_p.A172A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	886	PKD.					integral to membrane	neuropeptide receptor activity			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)		ATAAGAGTGCGGGGATCTTCC	0.527000													38	50					0	0	1	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165395	134165395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:134165395C>T	ENST00000372264.3	+	1	315	c.11C>T	c.(10-12)tCc>tTc	p.S4F	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.S4F	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	4						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		ATGCCAGCTTCCCAGAGCCGG	0.711000													4	28					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745001	84745001	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:84745001C>T	ENST00000372142.2	+	11	1414	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	NRG3_ENST00000537893.1_Silent_p.I227I|NRG3_ENST00000556918.1_Silent_p.I407I|NRG3_ENST00000404576.2_Silent_p.I381I|NRG3_ENST00000545131.1_Silent_p.I227I|NRG3_ENST00000404547.1_Silent_p.I601I|NRG3_ENST00000372141.2_Silent_p.I577I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	601					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGCCCATCATCCCTTCAGTGG	0.468000													88	142					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182007	128182007	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:128182007G>A	ENST00000469083.1	-	2	2639	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	DNAJB8_ENST00000319153.3_Missense_Mutation_p.L28F			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	28	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGCCAACGAAGGGCCAGCTTG	0.577000													33	248					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532172	190532172	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:190532172G>T	ENST00000260952.4	+	4	1727	c.1314G>T	c.(1312-1314)caG>caT	p.Q438H	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	438	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAGAACTGCAGAAATTAAGAA	0.403000													21	165					0.000132079	0.000132398	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111887905	111887905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:111887905C>T	ENST00000305815.5	-	25	3308	c.3056G>A	c.(3055-3057)tGg>tAg	p.W1019*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.W971*	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1019					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTGTAGTTCCAATCCTGTTT	0.259000													9	36					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661749	40661749	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:40661749C>T	ENST00000267889.3	+	8	3523	c.3436C>T	c.(3436-3438)Cgc>Tgc	p.R1146C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1146					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAAGGCAGGCCGCCCACGACC	0.647000													12	91					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66949187	66949187	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:66949187G>A	ENST00000299752.4	-	6	712	c.519C>T	c.(517-519)gcC>gcT	p.A173A	CDH16_ENST00000565796.1_Silent_p.A173A|CDH16_ENST00000570262.1_Silent_p.A93A|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Silent_p.A173A	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	173	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGGAAGGCTGGGCTGGAGCCT	0.647000													10	72					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351714	123351714	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123351714C>T	ENST00000267202.2	-	4	1188	c.807G>A	c.(805-807)caG>caA	p.Q269Q		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	269	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCGGGGGTCTCTGAGGGAGAG	0.672000													14	20					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140246635	140246635	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:140246635G>A	ENST00000275884.6	-	12	2559	c.2142C>T	c.(2140-2142)atC>atT	p.I714I	DENND2A_ENST00000537639.1_Silent_p.I714I|DENND2A_ENST00000496613.1_Silent_p.I714I|DENND2A_ENST00000492720.1_Silent_p.I714I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	714	DENN.									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)					TCTTGACAAGGATGGTTTTGC	0.562000													27	66					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237691	126237691	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126237691G>A	ENST00000394329.3	+	1	138	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	42					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TGGGTCCACGGGGCCGAGCCG	0.632000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	128					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109773146	109773146	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:109773146C>T	ENST00000277225.5	+	13	7645	c.7356C>T	c.(7354-7356)caC>caT	p.H2452H	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Silent_p.H1358H|ZNF462_ENST00000457913.1_Silent_p.H2512H|ZNF462_ENST00000542028.1_Silent_p.H409H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2452			H -> L (in dbSNP:rs10217192).		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAATCCACCCAAAAGAGA	0.388000													4	42					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83866963	83866963	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:83866963T>C	ENST00000349129.2	+	35	6927	c.6667T>C	c.(6667-6669)Ttt>Ctt	p.F2223L	DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F2214L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2223					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTGTTCCTGTTTTTCAGAGT	0.388000													14	99					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771345	143771345	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:143771345C>T	ENST00000408898.2	+	1	71	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCACAGAGTTCCTCCTACTGG	0.478000													14	169					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353240	45353240	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:45353240C>T	ENST00000303230.4	-	5	1396	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	447						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAATATTTTCCTCATCAAAG	0.343000													9	57					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57908737	57908737	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57908737G>A	ENST00000262027.5	+	17	2234	c.2099_splice	c.e17-1	p.R700_splice	MARS_ENST00000315473.5_Splice_Site_p.R466_splice	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	700					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCTTCCCAGGATCCGGGATG	0.507000													59	65					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702500	40702500	+	Splice_Site	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:40702500T>C	ENST00000298910.7	+	29	4247		c.e29+2			NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						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			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)				ATTTTGCAGGTATTTCTTTCT	0.368000													5	76					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10182060	10182060	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:10182060C>T	ENST00000380833.4	+	11	2307	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	CLCN4_ENST00000421085.2_Missense_Mutation_p.S545F|CLCN4_ENST00000380829.1_Missense_Mutation_p.S608F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	639	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGGTGGTCTCCAGAGACTCC	0.562000													4	39					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472789	58472789	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58472789C>T	ENST00000314391.3	-	5	603	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	168						integral to membrane		p.E168K(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGCTCATTTTCGTTCTCTGGA	0.488000													23	80					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91549210	91549210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:91549210C>T	ENST00000509176.1	+	6	2047	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*	CCSER1_ENST00000432775.2_Nonsense_Mutation_p.Q587*|CCSER1_ENST00000333691.8_Nonsense_Mutation_p.Q587*	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GGACGTTGATCAAGAAGCCAG	0.433000													16	81					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160894	52160894	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:52160894G>A	ENST00000282588.6	+	5	932	c.474G>A	c.(472-474)gtG>gtA	p.V158V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	158					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAAGTCGTGAATTCCATTG	0.393000													19	82					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123102893	123102893	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123102893C>T	ENST00000333479.7	+	58	6211	c.6034C>T	c.(6034-6036)Ccc>Tcc	p.P2012S	KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P937S|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2012					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			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)		TTCACAGGTTCCCTACTTCAG	0.443000													5	29					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316860	94316860	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:94316860G>A	ENST00000282020.4	+	9	1605		c.e9+1		GRID2_ENST00000510992.1_Splice_Site	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AACTGTTCTGGTAAGTATTAT	0.373000													12	94					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310661	57310661	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57310661G>A	ENST00000457912.1	+	2	600	c.600G>A	c.(598-600)agG>agA	p.R200R	SMTNL1_ENST00000527972.1_Silent_p.R182R|SMTNL1_ENST00000399154.2_Intron			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	182										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGCCAGAGGAAAGAGTGCA	0.552000													10	20					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969868	101969868	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:101969868C>T	ENST00000543253.1	+	5	990	c.71C>T	c.(70-72)gCt>gTt	p.A24V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A24V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGGTTATCGCTGGGCCTGAG	0.527000													25	167					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218820	122218820	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:122218820C>T	ENST00000267205.2	-	4	1057	c.429G>A	c.(427-429)cgG>cgA	p.R143R	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	143					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CCCGGAGCTTCCGCAGCTGCT	0.652000													5	39					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841841	5841841	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5841841G>A	ENST00000317037.2	+	1	298	c.276G>A	c.(274-276)aaG>aaA	p.K92K	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACCTCAAGGAGATTGACT	0.522000													23	169					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836455	55836455	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:55836455G>A	ENST00000247178.5	-	10	1396	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	454					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CTGACTCTGGGAGACTTCCAC	0.587000													16	84					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533060	169533060	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:169533060G>A	ENST00000449804.2	+	1	144	c.99G>A	c.(97-99)gaG>gaA	p.E33E	FOXI1_ENST00000306268.6_Silent_p.E33E	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	33	Pro-rich.				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.E33D(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)			TCTACTATGAGAACTTCTTCC	0.677000									Pendred syndrome				8	36					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18264850	18264850	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:18264850G>A	ENST00000251900.4	-	13	1828	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	SCML2_ENST00000398048.3_Missense_Mutation_p.P293S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	557					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTACAGGCAGGATTCAAATAA	0.423000													55	121					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459728	107459728	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:107459728C>T	ENST00000409382.3	-	2	1316	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V236M|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V236M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	236					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			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						CGGAAGCGCACCCCGTGCTTG	0.677000													3	15					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896935	43896935	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43896935G>A	ENST00000450892.2	-	20	4117	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F	STRC_ENST00000541030.1_Missense_Mutation_p.S574F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1347					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTGAGATGGGACAGCAGGAT	0.557000													29	79					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21530063	21530063	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:21530063C>T	ENST00000313654.9	+	72	9823	c.9582C>T	c.(9580-9582)atC>atT	p.I3194I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.I3138I|LAMA3_ENST00000587184.1_Silent_p.I1529I|LAMA3_ENST00000269217.6_Silent_p.I1585I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3194	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTGGGATCCTAATACACA	0.463000													8	67					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166735	100166735	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:100166735C>T	ENST00000547776.2	-	8	1092	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E365K|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	365						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTTCTTCCTCTGAAATCTTG	0.393000													23	49					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030428	95030428	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:95030428G>A	ENST00000557004.1	+	2	1030	c.609G>A	c.(607-609)aaG>aaA	p.K203K	SERPINA4_ENST00000555095.1_Silent_p.K203K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.K203K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	203					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AGCTCAAGAAGGACGTCTTGA	0.458000													74	163					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76886494	76886494	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76886494C>T	ENST00000409709.3	+	18	2443	c.2171C>T	c.(2170-2172)aCc>aTc	p.T724I	MYO7A_ENST00000409893.1_Missense_Mutation_p.T724I|MYO7A_ENST00000458637.2_Missense_Mutation_p.T724I|MYO7A_ENST00000409619.2_Missense_Mutation_p.T713I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	724	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATAGGCAAAACCAAGATCTTT	0.617000													105	124					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75114936	75114936	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:75114936C>T	ENST00000326665.5	-	2	305	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	29										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						GACGCCTTATCCTTGTATTGT	0.353000													38	63					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642777	91642777	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:91642777A>T	ENST00000373094.1	+	5	4033	c.3188A>T	c.(3187-3189)gAa>gTa	p.E1063V	PCDH11X_ENST00000373088.1_Missense_Mutation_p.E1026V|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E1026V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E1053V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E1063V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E1053V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1063					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						GGCTCTCAGGAAAGCAGCAGT	0.493000													18	136					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:71101260C>T	ENST00000393567.2	-	15	2158	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	670										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGCCAGCTCGTATTTCTGC	0.527000													13	62					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377896	49377896	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:49377896A>G	ENST00000200453.5	+	2	1675	c.1406A>G	c.(1405-1407)cAt>cGt	p.H469R		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	469	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCAGACCCACATCCCTCCCAC	0.567000													26	111					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	2999054	2999054	+	Splice_Site	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:2999054G>T	ENST00000381127.1	+	5	627	c.406_splice	c.e5+1	p.G136_splice	ARSF_ENST00000537104.1_Splice_Site_p.G136_splice|ARSF_ENST00000359361.2_Splice_Site_p.G136_splice	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	136						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCTTATAGGTAAGACACA	0.423000													16	102					2.23348e-06	2.24249e-06	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25449569	25449569	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25449569G>A	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATTCTCAAAAGGATTATGCTG	0.498000													86	257					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208369	58208369	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:58208369G>A	ENST00000377918.3	+	1	1715	c.1689G>A	c.(1687-1689)ttG>ttA	p.L563L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCGCACTTGGAGAGCAACG	0.617000													11	72					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993787	144993787	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:144993787G>A	ENST00000322810.4	-	32	10782	c.10613C>T	c.(10612-10614)cCc>cTc	p.P3538L	PLEC_ENST00000527096.1_Missense_Mutation_p.P3424L|PLEC_ENST00000354589.3_Missense_Mutation_p.P3401L|PLEC_ENST00000436759.2_Missense_Mutation_p.P3428L|PLEC_ENST00000398774.2_Missense_Mutation_p.P3369L|PLEC_ENST00000354958.2_Missense_Mutation_p.P3379L|PLEC_ENST00000356346.3_Missense_Mutation_p.P3387L|PLEC_ENST00000357649.2_Missense_Mutation_p.P3405L|PLEC_ENST00000345136.3_Missense_Mutation_p.P3401L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3538	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			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						GTTCCGCACGGGGTCCACCAG	0.692000													5	24					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676310	11676310	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:11676310C>T	ENST00000423059.3	-	2	720	c.469G>A	c.(469-471)Gag>Aag	p.E157K	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	157						integral to membrane				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)		CACGCTATCTCCCTCACCTGA	0.502000										HNSCC(18;0.044)			19	64					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544335	1544335	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:1544335C>T	ENST00000262319.6	+	2	332	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	18						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCATTCATGCCCTCTCGTCT	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	128					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752127	141752127	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:141752127G>A	ENST00000475668.2	+	25	2893	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	MGAM_ENST00000549489.2_Missense_Mutation_p.G947R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	947					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)	TCTTCTCCTGGGAGAAGCATA	0.418000													10	12					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942300	144942300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:144942300C>T	ENST00000525985.1	-	2	5193	c.5122G>A	c.(5122-5124)Ggc>Agc	p.G1708S				P58107	EPIPL_HUMAN	epiplakin 1	1708						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGTAGCCGCAGCGGTAG	0.672000													8	124					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784355	160784355	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160784355G>A	ENST00000263285.5	+	4	906	c.876G>A	c.(874-876)gaG>gaA	p.E292E	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.E292E|LY9_ENST00000368041.2_Silent_p.E252E	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	292	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAGCAAAGAGAGGGAAGAAG	0.547000													56	75					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697599	152697599	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:152697599C>A	ENST00000367255.5	-	58	9842	c.9241G>T	c.(9241-9243)Gtt>Ttt	p.V3081F	SYNE1_ENST00000448038.1_Missense_Mutation_p.V3088F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3081F|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3120F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3088F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3081					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCATTAACCAACCACTGC	0.378000										HNSCC(10;0.0054)			36	69					5.8336e-16	5.89516e-16	1	1	0
DOCK8	81704	broad.mit.edu	37	9	399220	399220	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:399220G>A	ENST00000432829.2	+	26	3307	c.2991G>A	c.(2989-2991)cgG>cgA	p.R997R	DOCK8_ENST00000382331.1_Silent_p.R367R|DOCK8_ENST00000453981.1_Silent_p.R1065R|DOCK8_ENST00000469391.1_Silent_p.R965R|DOCK8_ENST00000382329.1_Silent_p.R532R	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1065					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCATGGATCGGGGCTTTGTGT	0.483000													12	73					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306657	46306657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:46306657C>T	ENST00000397850.2	-	16	2693	c.2241G>A	c.(2239-2241)tgG>tgA	p.W747*	ITGB2_ENST00000397852.1_Nonsense_Mutation_p.W747*|ITGB2_ENST00000355153.4_Nonsense_Mutation_p.W747*|ITGB2_ENST00000397857.1_Nonsense_Mutation_p.W747*|ITGB2_ENST00000397854.3_Nonsense_Mutation_p.W690*|ITGB2_ENST00000302347.5_Nonsense_Mutation_p.W747*			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	747					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTACATTGTTCCACTGGGACT	0.612000													14	90					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7718278	7718278	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:7718278G>A	ENST00000454689.1	-	0	993				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TAATATAGGTGGAGGCTTTCT	0.557000													13	16					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997061	31997061	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31997061G>A	ENST00000435363.2	+	28	3706	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	C4B_ENST00000425700.2_Missense_Mutation_p.D1208N	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1208					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCCCCTGCGGACCTGCGGGG	0.647000													11	71					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061765	189061765	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:189061765G>A	ENST00000332517.3	+	2	632	c.492G>A	c.(490-492)gtG>gtA	p.V164V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	164					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGAGAGTGAAACTGTGCC	0.423000													18	104					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155643121	155643121	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:155643121C>T	ENST00000496455.1	+	12	1861	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	GMPS_ENST00000295920.7_Missense_Mutation_p.A410V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	509					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCACTGAATGCCTTCTTGCTG	0.403000			T	MLL	AML								4	53					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436400	85436400	+	Missense_Mutation	SNP	G	G	A	rs147682106	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:85436400G>A	ENST00000359152.5	-	1	2671	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P367L|SYTL2_ENST00000354566.3_Missense_Mutation_p.P367L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCATCCTGGGGAAAAAGCAT	0.493000													54	123					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047137	19047137	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:19047137G>A	ENST00000421369.3	+	7	1225	c.667G>A	c.(667-669)Gag>Aag	p.E223K	TMC7_ENST00000304381.5_Missense_Mutation_p.E333K|TMC7_ENST00000561963.1_Intron|TMC7_ENST00000569532.1_Missense_Mutation_p.E333K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	333						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTGCGGTACGAGCTCCGAGT	0.552000													18	59					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	980483	980483	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:980483C>T	ENST00000537687.1	+	10	4074	c.3431C>T	c.(3430-3432)tCa>tTa	p.S1144L	WNK1_ENST00000535572.1_Missense_Mutation_p.S731L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1229L|WNK1_ENST00000340908.4_Missense_Mutation_p.S324L|WNK1_ENST00000315939.6_Missense_Mutation_p.S731L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	889					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGGGGTTTCATCTTCCCAA	0.433000													11	94					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150077	34150077	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:34150077G>A	ENST00000389232.4	+	99	14174	c.14104G>A	c.(14104-14106)Gat>Aat	p.D4702N	RYR3_ENST00000415757.3_Missense_Mutation_p.D4697N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4702					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCGAAGACGATGACGAGCC	0.587000													5	74					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129301	20129301	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:20129301C>T	ENST00000396085.1	+	37	7303	c.6942C>T	c.(6940-6942)ctC>ctT	p.L2314L	NAV2_ENST00000311043.8_Silent_p.L1375L|NAV2_ENST00000360655.4_Silent_p.L2247L|NAV2_ENST00000533917.1_Silent_p.L1375L|NAV2_ENST00000540292.1_Silent_p.L2301L|NAV2_ENST00000396087.3_Silent_p.L2370L|NAV2_ENST00000527559.2_Silent_p.L2299L|NAV2_ENST00000349880.4_Silent_p.L2311L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2370						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCTATCTCCTGGAAGCCG	0.557000													50	247					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036556	13036556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:13036556C>T	ENST00000376187.1	+	2	628	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	210										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						AGACAGTATCCAAGTGTTGGA	0.413000													12	236					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6974991	6974991	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:6974991G>A	ENST00000389658.3	-	46	6627	c.6534C>T	c.(6532-6534)ttC>ttT	p.F2178F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2178	Laminin G-like 1.				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			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)	GGTCCCACAGGAAGGCCACTC	0.547000													6	57					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743415	38743415	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38743415G>A	ENST00000449082.2	-	26	4571	c.4572C>T	c.(4570-4572)gtC>gtT	p.V1524V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1524					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATCTTCATGACACATTCGC	0.458000													57	112					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853581	23853581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:23853581G>A	ENST00000218867.3	+	5	593	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SGCG_ENST00000545013.1_Missense_Mutation_p.E157K|SGCG_ENST00000537476.1_Missense_Mutation_p.E157K	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	157					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATGAGAAGGAAGTTGTGGT	0.393000													6	45					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73638353	73638353	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73638353C>T	ENST00000544909.1	+	10	1385	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	PAAF1_ENST00000310571.3_Silent_p.I375I|PAAF1_ENST00000376384.5_Silent_p.I358I|PAAF1_ENST00000541951.1_Silent_p.I260I|PAAF1_ENST00000536003.1_Silent_p.I358I|PAAF1_ENST00000535604.1_Silent_p.I260I|PAAF1_ENST00000544552.1_Silent_p.I358I			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	375					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGAAGCAGATCTACACATGCT	0.458000													18	51					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832854	113832854	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:113832854C>T	ENST00000393197.2	+	4	793	c.372C>T	c.(370-372)ggC>ggT	p.G124G	IL1F10_ENST00000337569.3_Silent_p.G124G|IL1F10_ENST00000341010.2_Silent_p.G124G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	124						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCTGTGTGGCCCGGCAGAGC	0.597000													25	176					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922295	184922295	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:184922295G>A	ENST00000231887.3	-	6	894	c.819C>T	c.(817-819)ttC>ttT	p.F273F	EHHADH_ENST00000456310.1_Silent_p.F177F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	273	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCCTTTCAGCGAAGAAAGCAT	0.498000													25	237					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487113	51487113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:51487113G>A	ENST00000340438.4	+	1	633	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	131					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGTTACCATGGAACTTTCAGA	0.512000													7	37					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424511	110424511	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:110424511G>A	ENST00000378402.5	+	20	2207	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	701					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTAACAGAGGGCAGAAGACAG	0.413000										HNSCC(38;0.096)			22	49					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553632	50553632	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50553632C>T	ENST00000262794.5	+	8	1299	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P406S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P406S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P386S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	406					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGGCTTGTCCCTCCAGGGGG	0.478000													33	217					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617584	86617584	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:86617584G>A	ENST00000325875.3	+	3	2015	c.1683G>A	c.(1681-1683)atG>atA	p.M561I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	561					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TACCAGAAATGAAACAGTCAA	0.373000													8	128					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480915	57480915	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:57480915G>A	ENST00000371236.2	-	12	1348	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	DAB1_ENST00000439789.2_Missense_Mutation_p.P276L|DAB1_ENST00000414851.2_Missense_Mutation_p.P344L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P395L|DAB1_ENST00000420954.2_Missense_Mutation_p.P360L|DAB1_ENST00000371234.4_Missense_Mutation_p.P362L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	395					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCGGCTGGCGGAAACTGCCC	0.652000													58	73					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331756	20331756	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20331756C>T	ENST00000302555.5	-	5	835	c.686G>A	c.(685-687)aGg>aAg	p.R229K	GP2_ENST00000381360.5_Missense_Mutation_p.R85K|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Missense_Mutation_p.R232K|GP2_ENST00000341642.5_Missense_Mutation_p.R82K			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	232	EGF-like.|ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTGATCTCCCTGGGCCCACA	0.542000													10	45					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609425	105609425	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:105609425C>T	ENST00000254765.3	-	2	638	c.360G>A	c.(358-360)ggG>ggA	p.G120G	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	120						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GCAAAGAGATCCCCAGGGGCT	0.443000													30	209					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7832450	7832450	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:7832450G>A	ENST00000327325.5	+	6	1103	c.985G>A	c.(985-987)Gga>Aga	p.G329R	CLEC4M_ENST00000359059.5_Missense_Mutation_p.G262R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G317R|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G193R|CLEC4M_ENST00000334806.5_Missense_Mutation_p.G278R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.G307R|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G262R	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	329	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CTCCTGGATGGGACTTTCAGA	0.547000													12	88					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218799	122218799	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:122218799C>T	ENST00000267205.2	-	4	1078	c.450G>A	c.(448-450)ctG>ctA	p.L150L	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	150					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TGATGGGCTCCAGCTGGGCGG	0.662000													5	34					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534472	43534472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:43534472C>T	ENST00000282041.5	-	2	930	c.896G>A	c.(895-897)cGa>cAa	p.R299Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	299					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTCCTACATCGTGAGTAGTT	0.428000													19	111					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608132	29608132	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:29608132G>A	ENST00000431530.3	+	2	2404	c.2346G>A	c.(2344-2346)ttG>ttA	p.L782L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	772	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTAGGATTGGGTGCAATGT	0.502000													11	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068203	9068203	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9068203C>T	ENST00000397910.4	-	3	19446	c.19243G>A	c.(19243-19245)Gaa>Aaa	p.E6415K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6417	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GTGGGCTTTTCAGTGCCTTGG	0.493000													38	150					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459659	142459659	+	Missense_Mutation	SNP	G	G	A	rs111033564		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142459659G>A	ENST00000486171.1	+	4	294	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	PRSS1_ENST00000311737.7_Missense_Mutation_p.E79K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	79	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCACAACATCGAAGTCCTGGA	0.547000													159	261					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868872	97868872	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:97868872C>T	ENST00000437310.1	+	1	703	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGGGACTGTTCTTATATCTTA	0.328000													22	48					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247075	89247075	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:89247075G>A	ENST00000496168.1	-	0	275																											TGCAGACAGGGTGGAAGGAGA	0.463000													76	214					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883392	145883392	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:145883392A>C	ENST00000296702.5	+	18	2591	c.2553A>C	c.(2551-2553)ttA>ttC	p.L851F	TCERG1_ENST00000394421.2_Missense_Mutation_p.L830F|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	851					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACAGAATTTAGACTCAGAAA	0.373000													16	88					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313521	99313521	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99313521C>T	ENST00000336374.2	-	7	532	c.530G>A	c.(529-531)gGg>gAg	p.G177E		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GCTGTAGGCCCCAAAGACGCT	0.463000													20	244					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784272	217784272	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:217784272A>C	ENST00000366935.3	-	4	1087	c.977T>G	c.(976-978)tTa>tGa	p.L326*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.L326*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	326						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGAACCAGTTAAGATACTTTC	0.453000													44	41					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222473	140222473	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140222473C>T	ENST00000531613.1	+	1	1567	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.L523L|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGCTGGACCACGA	0.677000													51	188					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617000													7	60					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854773	4854773	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4854773G>A	ENST00000252318.2	+	5	1376	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	347						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGATCTGCATGATGTCACTGC	0.468000													7	52					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254945	51254945	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:51254945C>T	ENST00000404971.1	-	2	1806	c.467G>A	c.(466-468)gGg>gAg	p.G156E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G156E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G156E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G156E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G156E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G156E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G156E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	156	Laminin G-like 1.				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			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)			GGGCAGCCCCCCGACGAAAAG	0.662000													9	27					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346526	89346526	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:89346526G>A	ENST00000301030.4	-	9	6884	c.6424C>T	c.(6424-6426)Ccc>Tcc	p.P2142S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2142S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2142	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCTGCAGGGGAAGCTCCGGC	0.662000													10	44					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800117	27800117	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27800117G>A	ENST00000408964.2	+	1	729	c.678G>A	c.(676-678)gaG>gaA	p.E226E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	226										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)					TAACTCCAGAGAAAAGCTACC	0.448000													38	88					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172634262	172634262	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:172634262G>A	ENST00000351008.3	-	9	1531	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	450					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGGATGCAGGAAAACTCCCC	0.473000													79	185					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5140227	5140227	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:5140227A>G	ENST00000427587.4	-	6	668	c.600T>C	c.(598-600)aaT>aaC	p.N200N	FAM86A_ENST00000587133.1_Silent_p.N139N|FAM86A_ENST00000458008.4_Silent_p.N166N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	200										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGAGAAGGACATTCCCTCGGA	0.617000													33	78					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907872	77907872	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:77907872A>T	ENST00000355300.6	-	2	551	c.377T>A	c.(376-378)cTc>cAc	p.L126H	LINGO1_ENST00000561030.1_Missense_Mutation_p.L120H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	126					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTTGCTGCGGAGACCCAGCGT	0.602000													7	48					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346709	102346709	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:102346709C>T	ENST00000328882.4	+	1	808	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTTCCATTTCCCACATCACA	0.368000													22	100					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99681554	99681554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:99681554G>A	ENST00000393483.3	-	16	2096	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R418*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R418*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R418*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	418					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGGCTTTTCGAAGTTGTTCC	0.363000													28	110					0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092709	40092709	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:40092709G>A	ENST00000372852.3	-	5	776	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	HEYL_ENST00000535435.1_Missense_Mutation_p.L125F	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	153	Orange.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TAGCTGTTGAGGTGGGAGAGA	0.632000													47	47					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229636606	229636606	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:229636606G>A	ENST00000261396.3	-	4	501	c.410C>T	c.(409-411)tCc>tTc	p.S137F	NUP133_ENST00000366678.3_Missense_Mutation_p.S137F|NUP133_ENST00000366679.1_Missense_Mutation_p.S137F|NUP133_ENST00000537506.1_Missense_Mutation_p.S121F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	137					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTGCAAACGGATAACTGTAG	0.408000													25	19					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45135121	45135121	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:45135121C>T	ENST00000296129.1	-	6	1409	c.1275G>A	c.(1273-1275)agG>agA	p.R425R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	425	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTAGGATTTCCTTTGGCAGT	0.597000													29	248					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894639	71894639	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:71894639C>T	ENST00000258104.3	+	47	5611	c.5334C>T	c.(5332-5334)atC>atT	p.I1778I	DYSF_ENST00000409582.3_Silent_p.I1816I|DYSF_ENST00000394120.2_Silent_p.I1779I|DYSF_ENST00000429174.2_Silent_p.I1799I|DYSF_ENST00000409366.1_Silent_p.I1800I|DYSF_ENST00000410041.1_Silent_p.I1796I|DYSF_ENST00000409651.1_Silent_p.I1810I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.I1817I|DYSF_ENST00000409762.1_Silent_p.I1795I|DYSF_ENST00000409744.1_Silent_p.I1786I|DYSF_ENST00000413539.2_Silent_p.I1809I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1778						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCAGACATCGAGCAGGTAG	0.632000													29	38					0	0	1	0	0
RPS11P6	729258	broad.mit.edu	37	12	64790381	64790381	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:64790381G>A	ENST00000535684.1	+	0	902																											TACTGCTAAAGGAAACTGGCA	0.463000													3	11					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926428	50926428	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50926428C>T	ENST00000395732.3	+	4	313	c.291C>T	c.(289-291)ttC>ttT	p.F97F	MIOX_ENST00000216075.6_Silent_p.F97F|MIOX_ENST00000395733.3_Silent_p.F97F			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	97					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAACTCCTTCCATGCCTTCC	0.627000													14	69					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717425	73717425	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:73717425C>T	ENST00000264448.6	+	10	8447	c.8336C>T	c.(8335-8337)tCa>tTa	p.S2779L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2737L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2779					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATAGTAATTCACAAGATAAA	0.348000													24	82					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:161969941G>A	ENST00000366898.1	-	9	1130	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	PARK2_ENST00000366896.1_Missense_Mutation_p.P194L|PARK2_ENST00000366897.1_Missense_Mutation_p.P315L|PARK2_ENST00000366892.1_Missense_Mutation_p.P343L|PARK2_ENST00000338468.3_Missense_Mutation_p.P152L|PARK2_ENST00000366894.1_Missense_Mutation_p.P152L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	343					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637000													41	112					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44926878	44926878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:44926878G>A	ENST00000296125.4	+	2	149	c.81G>A	c.(79-81)tgG>tgA	p.W27*		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	27					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACCACACATGGGAGTTCCAAA	0.537000													22	49					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744403	17744403	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:17744403T>C	ENST00000380060.3	+	6	2452	c.2114T>C	c.(2113-2115)cTa>cCa	p.L705P	NHS_ENST00000398097.3_Missense_Mutation_p.L549P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	705						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGGAATTACCTACACCACCAC	0.537000													21	215					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42222625	42222625	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:42222625A>C	ENST00000541110.1	-	13	3248	c.2680T>G	c.(2680-2682)Tta>Gta	p.L894V	TRERF1_ENST00000340840.2_Missense_Mutation_p.L791V|TRERF1_ENST00000372917.4_Missense_Mutation_p.L791V|TRERF1_ENST00000372922.4_Missense_Mutation_p.L874V|TRERF1_ENST00000354325.2_Missense_Mutation_p.L791V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	874	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGACATTTTAACCTGACAGGC	0.522000													19	116					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996058	57996058	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57996058G>A	ENST00000316770.2	-	1	332	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCAGCCAACGAAATGGGCTT	0.522000													10	69					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:106815664G>A	ENST00000407775.2	+	8	3604	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.G986G|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.G849G|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.G986G|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1118					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			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)			CAACCAGTGGGAAATATTGCC	0.428000													14	34					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649928	57649928	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:57649928G>A	ENST00000269834.1	-	3	439	c.54C>T	c.(52-54)acC>acT	p.T18T		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCCCCCTGGGTGAAGTTCA	0.502000													32	99					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706869	45706869	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:45706869C>T	ENST00000305560.6	+	4	1634	c.1535C>T	c.(1534-1536)aCc>aTc	p.T512I	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.T512I	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	512						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGTGCTAAAACCACTCTGGTG	0.498000													20	84					0	0	1	0	0
TRAV5	28688	broad.mit.edu	37	14	22217771	22217771	+	RNA	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22217771T>C	ENST00000390427.3	+	0	134																											AGCTCCGTTATAAACTGCACT	0.448000													21	48					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764351	59764351	+	Missense_Mutation	SNP	C	C	T	rs145034555		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:59764351C>T	ENST00000361421.1	-	4	645	c.425G>A	c.(424-426)cGa>cAa	p.R142Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	142						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCTGGGTTTCGTATATCTGG	0.378000													16	117					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880969	64880969	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64880969C>T	ENST00000279263.7	+	5	668	c.506C>T	c.(505-507)cCg>cTg	p.P169L	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P53L|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P169L|TM7SF2_ENST00000531029.1_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	169					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGCAATCCGATTTACGAC	0.537000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	287					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537489	1537489	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:1537489C>T	ENST00000447419.2	-	2	649	c.624G>A	c.(622-624)agG>agA	p.R208R	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.R203R			Q96A99	PTX4_HUMAN	pentraxin 4, long	208						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTGCCTGTCCCTCTGAAGCT	0.721000													5	24					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058175	43058175	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:43058175C>T	ENST00000316099.3	+	10	1384	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	HNF4A_ENST00000415691.1_Missense_Mutation_p.T422I|HNF4A_ENST00000457232.1_Missense_Mutation_p.T400I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	432					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCTGAGACCCCACAGCCC	0.612000													62	204					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:120387884G>A	ENST00000331113.4	+	6	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	622					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TACTCAGGAGGAAATATTGTC	0.423000													6	80					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25024079	25024079	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:25024079G>A	ENST00000400382.1	+	14	2123	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	GGT1_ENST00000406383.2_Silent_p.T456T|GGT1_ENST00000400383.1_Silent_p.T456T|GGT1_ENST00000401885.1_Silent_p.T112T|GGT1_ENST00000404223.1_Silent_p.T112T|GGT1_ENST00000403838.1_Silent_p.T112T|GGT1_ENST00000404920.1_Silent_p.T112T|GGT1_ENST00000248923.4_Silent_p.T456T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Silent_p.T112T|GGT1_ENST00000400380.1_Silent_p.T456T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	456					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTGCCCGACGATCATGGTGG	0.662000													17	104					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26719969	26719969	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:26719969A>G	ENST00000396005.3	-	7	1244	c.935T>C	c.(934-936)aTc>aCc	p.I312T	SLC5A12_ENST00000280467.6_Missense_Mutation_p.I312T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	312					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGGTGCTGAGATGATGCCAGA	0.473000													12	76					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268655	92268655	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:92268655G>A	ENST00000435962.2	-	4	735	c.412C>T	c.(412-414)Cct>Tct	p.P138S	TC2N_ENST00000360594.5_Missense_Mutation_p.P138S|TC2N_ENST00000340892.5_Missense_Mutation_p.P138S|TC2N_ENST00000556018.1_Missense_Mutation_p.P138S	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	138						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTCAAATCAGGTGAAATGTGC	0.428000													27	99					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101504229	101504229	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:101504229G>A	ENST00000392979.3	+	22	2453	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	ANO4_ENST00000299222.9_Missense_Mutation_p.A253T|ANO4_ENST00000550015.1_Missense_Mutation_p.A253T|ANO4_ENST00000392977.3_Missense_Mutation_p.A733T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	733						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTCCCCTAGCACCACTTCT	0.383000										HNSCC(74;0.22)			22	122					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976793	10976793	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:10976793G>A	ENST00000254488.2	+	13	1720	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	552					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTGGGGCTATGGCATTGGCTG	0.562000													29	185					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405684	47405684	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:47405684C>T	ENST00000295454.3	+	7	1083	c.791C>T	c.(790-792)tCt>tTt	p.S264F	GABRB1_ENST00000538619.1_Missense_Mutation_p.S194F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	264					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTGGGTGTCTTTTTGGATC	0.398000													17	59					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904019	5904019	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:5904019G>A	ENST00000378961.4	+	4	1433	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	410						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAGGGGCCTTGAGCCG	0.522000													48	116					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782298	10782298	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:10782298C>T	ENST00000416569.2	-	2	833	c.807G>A	c.(805-807)cgG>cgA	p.R269R	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	269						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGTGTTCCTTCCGCCGCTGGC	0.592000													21	104					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681119	100681119	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100681119C>T	ENST00000306151.4	+	3	6486	c.6422C>T	c.(6421-6423)tCa>tTa	p.S2141L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2141	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTATA	0.502000													78	671					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36216413	36216413	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36216413C>T	ENST00000420124.1	+	12	3676	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y	WBP7_ENST00000222270.7_Missense_Mutation_p.H1226Y|KMT2B_ENST00000607650.1_RNA																							TGACCCATTCCACCCATTCTG	0.607000													84	229					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282185	74282185	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:74282185G>A	ENST00000253577.3	-	14	1940	c.1916C>T	c.(1915-1917)tCg>tTg	p.S639L	ABCB7_ENST00000339447.4_Missense_Mutation_p.S598L|ABCB7_ENST00000373394.3_Missense_Mutation_p.S638L	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CGAATCTAACGATGAAGTAGC	0.353000													17	45					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89790379	89790379	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:89790379C>A	ENST00000297205.2	+	3	545	c.345C>A	c.(343-345)aaC>aaA	p.N115K	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	115					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TGGTCATCAACAAAGTCTTGC	0.388000													14	135					1.3612e-06	1.3678e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179495831	179495831	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179495831C>T	ENST00000589042.1	-	237	44168	c.43944G>A	c.(43942-43944)ttG>ttA	p.L14648L	TTN_ENST00000342992.6_Silent_p.L12080L|TTN_ENST00000591111.1_Silent_p.L13007L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5708L|TTN_ENST00000460472.2_Silent_p.L5583L|TTN_ENST00000342175.6_Silent_p.L5775L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13007	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTGATTTCAAGGCTTTCT	0.403000													8	62					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28854959	28854959	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:28854959G>A	ENST00000422425.2	+	54	3965	c.3921G>A	c.(3919-3921)gcG>gcA	p.A1307A	PLB1_ENST00000541605.1_Silent_p.A283A|PLB1_ENST00000327757.5_Silent_p.A1318A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1318	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGACTTTGCGGTTGTGGTGC	0.547000													28	84					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76137122	76137122	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:76137122C>T	ENST00000318430.5	+	16	2484	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.P481S	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	704						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCGTTCCCCTTGCCCTGG	0.756000													5	19					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160934	8160934	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8160934C>T	ENST00000600128.1	-	45	5984	c.5570G>A	c.(5569-5571)gGa>gAa	p.G1857E	FBN3_ENST00000601739.1_Missense_Mutation_p.G1857E|FBN3_ENST00000270509.2_Missense_Mutation_p.G1857E			Q75N90	FBN3_HUMAN	fibrillin 3	1857	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCCCATTTCCACAAGGCTG	0.572000													8	69					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314064	54314064	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:54314064G>A	ENST00000324134.6	-	3	1017	c.849C>T	c.(847-849)atC>atT	p.I283I	NLRP12_ENST00000351894.4_Silent_p.I283I|NLRP12_ENST00000391772.1_Silent_p.I283I|NLRP12_ENST00000535162.1_Silent_p.I283I|NLRP12_ENST00000354278.3_Silent_p.I283I|NLRP12_ENST00000345770.5_Silent_p.I283I|NLRP12_ENST00000391773.1_Silent_p.I283I|NLRP12_ENST00000391775.3_Silent_p.I283I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	283	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGAACTCGGATGAGCTCCT	0.592000													11	54					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647846	34647846	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:34647846G>A	ENST00000537011.1	+	8	2019	c.1637G>A	c.(1636-1638)gGg>gAg	p.G546E	NUTM1_ENST00000438749.3_Missense_Mutation_p.G536E|NUTM1_ENST00000333756.4_Missense_Mutation_p.G518E					NUT midline carcinoma, family member 1																		CAGGGGGCTGGGGGCGCCGCT	0.587000													40	114					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924600	153924600	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:153924600G>A	ENST00000368633.1	-	10	1018	c.891C>T	c.(889-891)gcC>gcT	p.A297A	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	297					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCTAGGGTAGGCTGTCTCTT	0.627000													91	65					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506297	11506297	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:11506297C>T	ENST00000500254.2	-	4	378	c.341G>A	c.(340-342)gGa>gAa	p.G114E	PRB1_ENST00000546254.1_Missense_Mutation_p.G114E|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	308	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.612000													54	318					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49994111	49994111	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:49994111C>T	ENST00000391857.4	+	5	408	c.332C>T	c.(331-333)cCc>cTc	p.P111L	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	111					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ATCCCACCGCCCTACGACAAG	0.572000													15	103					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799078	5799078	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5799078G>A	ENST00000317093.2	-	1	819	c.787C>T	c.(787-789)Cca>Tca	p.P263S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAATGCTGGAACATAGGTG	0.488000													14	86					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120385305	120385305	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:120385305G>A	ENST00000602047.1	+	17	1847	c.735G>A	c.(733-735)aaG>aaA	p.K245K	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Silent_p.K531K			Q4G0U5	PCDP1_HUMAN		531						cilium	calmodulin binding					Colorectal(110;0.196)					TGTCGCCCAAGGAGGTGCTGC	0.552000													65	166					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613202	2613202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:2613202G>A	ENST00000397461.1	+	3	399	c.15G>A	c.(13-15)tgG>tgA	p.W5*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W5*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W5*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	5					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGCCATGGGAACTGCTGG	0.368000													20	53					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357251	79357251	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:79357251C>T	ENST00000370742.3	-	14	2031	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	656					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TGAACATCCCCTGGAAAGCAT	0.408000													45	38					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681154	169681154	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:169681154G>A	ENST00000444448.2	+	5	600	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E42K|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E42K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	42	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGCAAACCTGGAAATTAGCTA	0.468000													12	79					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48733794	48733794	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:48733794G>A	ENST00000391898.3	-	7	978	c.936C>T	c.(934-936)tcC>tcT	p.S312S	CARD8_ENST00000521613.1_Silent_p.S262S|CARD8_ENST00000520153.1_Silent_p.S262S|CARD8_ENST00000359009.4_Silent_p.S206S|CARD8_ENST00000520753.1_Silent_p.S312S|CARD8_ENST00000519940.1_Silent_p.S312S|CARD8_ENST00000357778.5_Silent_p.S37S|CARD8_ENST00000520015.1_Silent_p.S312S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Silent_p.S262S	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	206					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TGATGGGGATGGAGAGGCGAG	0.552000													18	96					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923423	9923423	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:9923423G>A	ENST00000396573.2	-	10	2173	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P465S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P622S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P622S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P622S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P622S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	622					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCTTTAGGATTCTGGACA	0.488000													39	74					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456128	65456128	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:65456128G>A	ENST00000330909.8	-	5	788	c.789C>T	c.(787-789)ctC>ctT	p.L263L	MAGI1_ENST00000483466.1_Silent_p.L263L|MAGI1_ENST00000497477.2_Silent_p.L263L|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.L263L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	263	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGTTTCTTGGAGAGTGTGCT	0.448000													14	118					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359740	101359740	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:101359740G>A	ENST00000344327.3	-	4	1645	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.F407F	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	407					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGACCACAAGGAACTTGACCG	0.478000													11	122					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79978253	79978253	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79978253G>A	ENST00000373275.4	-	17	1900	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	562										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAAGAGGACGATAATCCGTG	0.378000													24	120					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039038	11039038	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:11039038C>T	ENST00000470054.1	-	0	1165									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)		TTGTAGGAGTCATTTCAGAGT	0.378000													33	626					0	0	1	0	0
LINC00691	152024	broad.mit.edu	37	3	24138594	24138594	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:24138594G>A	ENST00000436123.1	-	0	2129																											GCCCCCAAGGGAAACCGTTGA	0.448000													5	36					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238693	26238693	+	RNA	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:26238693A>G	ENST00000519902.1	-	0	1255																											CCAATACAGTATGATTACAGG	0.378000													20	60					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231047264	231047264	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:231047264G>A	ENST00000366661.4	-	20	2268	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	TTC13_ENST00000366662.4_Missense_Mutation_p.S700F|TTC13_ENST00000414259.1_Missense_Mutation_p.S701F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	754							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATAAACTAAGGATAAGATTAA	0.289000													10	18					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532368	47532368	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:47532368G>A	ENST00000300527.4	+	3	695	c.591G>A	c.(589-591)aaG>aaA	p.K197K	COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000357838.4_Silent_p.K197K|COL6A2_ENST00000310645.5_Silent_p.K197K|COL6A2_ENST00000397763.1_Silent_p.K197K|COL6A2_ENST00000409416.1_Silent_p.K197K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	197	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGAACCTGAAGGAGCAGGGCC	0.697000													5	33					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319138	70319138	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:70319138C>T	ENST00000338508.4	-	33	5388	c.5389G>A	c.(5389-5391)Gaa>Aaa	p.E1797K	SHANK2_ENST00000423696.2_Missense_Mutation_p.E1417K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1200K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E1201K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1417					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTAGACTTTCCAGCCAATCG	0.483000													49	293					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:139094905C>T	ENST00000332797.6	+	1	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000													57	164					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:44333576C>T	ENST00000335769.2	-	1	82	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC13_ENST00000305479.2_Intron|WFDC10B_ENST00000330523.5_5'UTR	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000													73	240					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911458	130911458	+	Silent	SNP	G	G	A	rs13413763	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:130911458G>A	ENST00000409031.1	-	17	2975	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	SMPD4_ENST00000431183.2_Silent_p.S507S|SMPD4_ENST00000443958.2_Silent_p.S273S|SMPD4_ENST00000426662.2_Silent_p.S245S|SMPD4_ENST00000452225.2_Silent_p.S350S|SMPD4_ENST00000453750.1_Silent_p.S358S|SMPD4_ENST00000339679.7_Silent_p.S467S|SMPD4_ENST00000351288.6_Silent_p.S580S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	570					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTCGGAGATGGACTTGGCTG	0.632000													11	70					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805430	24805430	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:24805430G>A	ENST00000216274.5	-	10	1726	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	503					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCAGGCTTCAGGATCTTTAGG	0.562000													35	85					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118817125	118817125	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:118817125G>A	ENST00000378204.2	-	10	2697	c.1891C>T	c.(1891-1893)Cac>Tac	p.H631Y		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	631					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TATAGGTAGTGATAATATCTG	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				32	89					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042039	73042039	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:73042039C>T	ENST00000604411.1	+	0	30000				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGTCATTTTTCATGAGGGATG	0.468000													14	33					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109366	58109366	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:58109366G>C	ENST00000357272.4	+	21	3838	c.3673G>C	c.(3673-3675)Gcc>Ccc	p.A1225P	FLNB_ENST00000348383.5_Missense_Mutation_p.A1225P|FLNB_ENST00000295956.4_Missense_Mutation_p.A1225P|FLNB_ENST00000419752.2_Missense_Mutation_p.A1056P|FLNB_ENST00000429972.2_Missense_Mutation_p.A1225P|FLNB_ENST00000493452.1_Missense_Mutation_p.A1056P|FLNB_ENST00000358537.3_Missense_Mutation_p.A1225P|FLNB_ENST00000490882.1_Missense_Mutation_p.A1225P			O75369	FLNB_HUMAN	filamin B, beta	1225	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTGGAGCCCGCCGTGGACAC	0.517000													26	102					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230000	140230000	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140230000G>A	ENST00000378122.3	+	1	2644	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.T640T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAAACGGACGCACCGC	0.672000													18	91					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921024	39921024	+	Missense_Mutation	SNP	G	G	A	rs76416187		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39921024G>A	ENST00000393931.3	-	7	1217	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	JUP_ENST00000393930.1_Missense_Mutation_p.R367C|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R367C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	367					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCACCAGGCGGGGGCTGTTG	0.652000													24	62					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36775284	36775284	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:36775284C>T	ENST00000361475.2	-	6	867	c.694G>A	c.(694-696)Gat>Aat	p.D232N	TGM2_ENST00000536724.1_Missense_Mutation_p.D172N|TGM2_ENST00000536701.1_Missense_Mutation_p.D151N	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	232					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCTGGTCATCGTTGCAGTTG	0.657000													20	39					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591801	38591801	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:38591801C>T	ENST00000222345.6	+	6	2473	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	655	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGTTCCTCTCCCTCATCGGC	0.592000													4	11					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:19653399C>T	ENST00000284885.3	-	22	2659	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343000													28	187					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93528227	93528227	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:93528227G>A	ENST00000251871.3	+	6	1299		c.e6+1		MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						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			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCTTTCCGAGTAAGAGCAGC	0.428000													18	267					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210777	166210777	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166210777G>A	ENST00000375437.2	+	17	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E999K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	999					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E999K(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGATGATAACGAAATGAATAA	0.388000													99	259					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381927	108381927	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:108381927C>T	ENST00000265843.4	-	6	4417	c.4307G>A	c.(4306-4308)gGa>gAa	p.G1436E	EXPH5_ENST00000428840.1_Missense_Mutation_p.G1360E|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1248E|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1429E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1436					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGGGAATTTCCAATATTAAC	0.398000													13	118					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98353964	98353964	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:98353964G>A	ENST00000264972.5	+	11	1533	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	ZAP70_ENST00000442208.1_Missense_Mutation_p.E314K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E133K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	440	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAATGTGGCCGAGCTGCTGCA	0.617000													5	75					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89209516	89209516	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:89209516C>T	ENST00000286614.6	-	2	433	c.152G>A	c.(151-153)gGc>gAc	p.G51D	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	51					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGAAGGTAGCCGTACTTTTG	0.398000													6	72					0	0	1	0	0
MMGT1	93380	broad.mit.edu	37	X	135047232	135047232	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135047232G>A	ENST00000305963.2	-	4	734	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MMGT1_ENST00000433339.2_Missense_Mutation_p.S181F	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	116						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGTGTTAGAGGACAATGCATC	0.378000													50	308					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													6	59					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663245	56663245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:56663245C>T	ENST00000389934.3	-	18	3104	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	TEX14_ENST00000240361.8_Missense_Mutation_p.G1002E|TEX14_ENST00000349033.5_Missense_Mutation_p.G996E	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1002						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGCCATTTCCTCTGGGCTC	0.532000													52	130					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4920414G>A	ENST00000433855.1	+	1	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_ENST00000280684.3_Missense_Mutation_p.D403N	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	403						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)			58	93					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886368	57886368	+	Silent	SNP	G	G	A	rs138832584		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57886368G>A	ENST00000302610.1	-	1	548	c.549C>T	c.(547-549)ccC>ccT	p.P183P	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183P(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCTTCAGCAGGGGTGGGAGGT	0.483000													22	45					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241208	3241208	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3241208C>T	ENST00000217939.6	-	5	2672	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	840						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGAGGATTCTTCAGCACTG	0.488000													44	102					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1192649	1192649	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1192649G>A	ENST00000347370.2	-	4	531	c.58C>T	c.(58-60)Cct>Tct	p.P20S	UBE2J2_ENST00000360466.2_Missense_Mutation_p.P72S|UBE2J2_ENST00000348298.7_Missense_Mutation_p.P20S|UBE2J2_ENST00000349431.6_Missense_Mutation_p.P72S|UBE2J2_ENST00000400929.2_Missense_Mutation_p.P20S|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P88S|UBE2J2_ENST00000339385.6_Missense_Mutation_p.P37S|UBE2J2_ENST00000491779.1_5'UTR	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	72					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGTTTGAAAGGAAATTCTCTG	0.507000													20	36					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114248386	114248386	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:114248386G>A	ENST00000371936.1	-	6	716	c.467C>T	c.(466-468)tCt>tTt	p.S156F	IL13RA2_ENST00000243213.1_Missense_Mutation_p.S156F			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	156	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGGTTTCCAAGAACAGAGTAA	0.313000													12	51					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123509272	123509272	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:123509272C>T	ENST00000223026.4	+	3	1583	c.945C>T	c.(943-945)ttC>ttT	p.F315F	HYAL4_ENST00000476325.1_Silent_p.F315F	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	315					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTATTTTTCCTTTCTAAGG	0.378000													5	55					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698587	138698587	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:138698587C>T	ENST00000520602.1	-	12	1510	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	MCF2_ENST00000338585.6_Missense_Mutation_p.E349K|MCF2_ENST00000536274.1_Missense_Mutation_p.E310K|MCF2_ENST00000519895.1_Missense_Mutation_p.E409K|MCF2_ENST00000414978.1_Missense_Mutation_p.E409K|MCF2_ENST00000370573.4_Missense_Mutation_p.E349K|MCF2_ENST00000370576.4_Missense_Mutation_p.E349K|MCF2_ENST00000370578.4_Missense_Mutation_p.E494K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	349					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTATCTATTTCCTGATTAGCT	0.323000													13	79					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55890553G>A	ENST00000313472.3	+	1	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000													36	115					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959787	117959787	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:117959787G>A	ENST00000310164.2	+	4	1087	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CAGACTTAAGGATTTTCTCAG	0.483000													17	163					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989088	66989088	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:66989088C>T	ENST00000276570.5	+	4	600	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	105					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTACTTCATGCTGTCGAGCTG	0.433000													45	124					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141274532	141274532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141274532C>T	ENST00000389484.3	-	50	9046	c.8075G>A	c.(8074-8076)gGa>gAa	p.G2692E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2692	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGCATCTTCCACTAGGACA	0.328000										TSP Lung(27;0.18)			14	54					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840152	150840152	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:150840152C>T	ENST00000370357.4	+	13	1583	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	446						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGCCTCTCCCACATCCCA	0.498000													63	114					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171554388	171554388	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:171554388G>A	ENST00000176763.5	-	3	702	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	120	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCATGATGGCGTCCACGGC	0.562000													5	33					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36103547	36103547	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:36103547G>A	ENST00000378660.1	+	5	721	c.533G>A	c.(532-534)gGa>gAa	p.G178E	CHDC2_ENST00000313548.4_Missense_Mutation_p.G178E					calponin homology domain containing 2																		CATTTGAGTGGAAAAATGCCA	0.378000													33	84					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541145	2541145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:2541145C>T	ENST00000288709.6	-	5	631	c.391G>A	c.(391-393)Gac>Aac	p.D131N	MMEL1_ENST00000502556.1_Missense_Mutation_p.D140N|MMEL1_ENST00000378412.3_Missense_Mutation_p.D140N	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	140					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGGAGGACGTCAAAGATGCTG	0.632000													40	53					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826956	46826956	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:46826956G>A	ENST00000283296.7	-	17	2972	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	GPR116_ENST00000265417.7_Missense_Mutation_p.S895L|GPR116_ENST00000362015.4_Missense_Mutation_p.S895L|GPR116_ENST00000545669.1_Missense_Mutation_p.S324L|GPR116_ENST00000456426.2_Missense_Mutation_p.S753L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	895					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S895L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACAATAGACGAATCCGACTG	0.458000													21	140					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350096	100350096	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100350096C>T	ENST00000542585.1	+	0	2516				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_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				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)			ACCCACCATTCCCACAGAAAA	0.527000													17	183					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14095134	14095134	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:14095134G>A	ENST00000382080.1	-	4	1106	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	SGCZ_ENST00000421524.2_Missense_Mutation_p.H84Y	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	118					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGCCCCATGTGATTTCTTGCA	0.383000													150	502					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934508	113934508	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:113934508C>T	ENST00000335953.4	+	2	866	c.486C>T	c.(484-486)tcC>tcT	p.S162S	ZBTB16_ENST00000392996.2_Silent_p.S162S	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	162					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGAAGCATTCCAGCGAGGAGA	0.587000													12	115					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725946	140725946	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140725946G>A	ENST00000253812.6	+	1	2346	c.2346G>A	c.(2344-2346)caG>caA	p.Q782Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAGCCAGGAGAGCTGTG	0.493000													36	174					0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025540	55025540	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:55025540C>T	ENST00000257867.4	-	4	390	c.337G>A	c.(337-339)Gga>Aga	p.G113R	LACRT_ENST00000547511.1_Missense_Mutation_p.G102R	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	113					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AATTGTTTTCCACCTGGCACG	0.473000													28	236					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112738393	112738393	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:112738393G>A	ENST00000314400.5	-	1	293	c.102C>T	c.(100-102)gcC>gcT	p.A34A	RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000383675.2_Silent_p.A34A|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	34						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ACTCACCAAGGGCCGCGCCGG	0.721000													6	24					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431595	135431595	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135431595G>A	ENST00000394143.1	+	6	6021	c.5730G>A	c.(5728-5730)gaG>gaA	p.E1910E	GPR112_ENST00000412101.1_Silent_p.E1705E|GPR112_ENST00000287534.4_Silent_p.E1847E|GPR112_ENST00000394141.1_Silent_p.E1705E|GPR112_ENST00000370652.1_Silent_p.E1910E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1910					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					TGGAAACAGAGACTCTACACC	0.433000													37	195					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689011	43689011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:43689011C>T	ENST00000404580.1	-	2	441	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PSG5_ENST00000599812.1_Missense_Mutation_p.G118E|PSG5_ENST00000407356.1_Missense_Mutation_p.G118E|PSG5_ENST00000407568.1_Missense_Mutation_p.G118E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.G118E|PSG5_ENST00000366175.3_Missense_Mutation_p.G118E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	118	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTGTAGGATCCTGCGTCTTC	0.448000													92	507					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516175	140516175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140516175G>A	ENST00000231134.5	+	1	1376	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGAATGATCTCCCCTT	0.478000													17	78					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84164717	84164717	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:84164717G>A	ENST00000219439.4	-	3	386	c.210C>T	c.(208-210)gcC>gcT	p.A70A	HSDL1_ENST00000434463.3_Silent_p.A70A	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	70	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CGCTGACAACGGCCCATCTTC	0.433000													51	136					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170023	22170023	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:22170023G>A	ENST00000397126.4	-	3	369	c.221C>T	c.(220-222)tCc>tTc	p.S74F	ZNF208_ENST00000601773.1_Missense_Mutation_p.S74F|ZNF208_ENST00000599916.1_Missense_Mutation_p.S74F|ZNF208_ENST00000597040.1_Missense_Mutation_p.S42F	NM_007153.3	NP_009084.2			zinc finger protein 208											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)				CCTACCTGGGGATTCTTCCAC	0.438000													8	57					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582534	55582534	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:55582534T>C	ENST00000361849.3	-	34	5352	c.4958A>G	c.(4957-4959)gAa>gGa	p.E1653G	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1628G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1611G|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1651G|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1648G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1582G	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	1651					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)				TTTCAACTGTTCTGTTCCTTC	0.408000										HNSCC(58;0.16)			29	116					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118649	58118649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58118649C>T	ENST00000332854.6	+	3	1976	c.1756C>T	c.(1756-1758)Caa>Taa	p.Q586*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGCCAAAGCTCTGG	0.383000													13	112					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471041	94471041	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:94471041G>A	ENST00000370225.3	-	44	6189	c.6103C>T	c.(6103-6105)Ctt>Ttt	p.L2035F	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.L305F|ABCA4_ENST00000535881.1_Missense_Mutation_p.L154F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2035	ABC transporter 2.		L -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGCATAAAGGTAAAGATGT	0.413000													84	94					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814487	42814487	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42814487C>T	ENST00000499536.2	+	2	1477	c.666C>T	c.(664-666)gtC>gtT	p.V222V	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.V222V			A6NJB7	PRR19_HUMAN	proline rich 19	222										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTGATCAAGTCCCAGAGCAGG	0.562000													22	104					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887086	123887086	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123887086G>A	ENST00000320891.4	+	1	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TGCCATGGATGGAGTTGTGGC	0.493000													12	130					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994619	140994619	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:140994619C>T	ENST00000285879.4	+	4	1715	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	477							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGTCTCCTCTCCAGAT	0.473000										HNSCC(15;0.026)			51	353					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805905	70805905	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:70805905G>A	ENST00000358731.4	+	17	3249	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	996	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCCCCAAGGGAAAATGGCCC	0.463000													22	87					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:182374525G>A	ENST00000397033.2	+	16	2266	c.1836G>A	c.(1834-1836)atG>atA	p.M612I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	612					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGACATAATGAAAAAAACAG	0.328000													17	67					0	0	1	0	0
OTUB1	55611	broad.mit.edu	37	11	63756099	63756099	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:63756099G>A	ENST00000543004.1	+	3	132	c.120_splice	c.e3-1	p.D41_splice	OTUB1_ENST00000428192.2_Intron|OTUB1_ENST00000536443.1_Intron|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000538426.1_Intron|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543988.1_Intron|OTUB1_ENST00000422031.2_Intron			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	40					protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TCCCTGCTAGGACATGACAGA	0.552000													24	112					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1475206	1475206	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:1475206C>T	ENST00000331035.4	+	7	1058	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	IL3RA_ENST00000381469.2_Missense_Mutation_p.R159C	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	237						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCGCAAATTTCGCTATGAGCT	0.463000													21	100					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371384	31371384	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:31371384C>T	ENST00000268296.4	+	7	826	c.705C>T	c.(703-705)gtC>gtT	p.V235V	ITGAX_ENST00000562522.1_Silent_p.V235V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	235	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCAAAATGTCGTGTGAGTCC	0.552000													23	98					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937852	4937852	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:4937852G>A	ENST00000512825.2	-	2	1461	c.50C>T	c.(49-51)gCc>gTc	p.A17V	SLC52A1_ENST00000254853.5_Missense_Mutation_p.A17V|SLC52A1_ENST00000424747.1_Missense_Mutation_p.A17V			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	17						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCCAAAAAGGGCCACCAGCAG	0.627000													35	65					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586524	169586524	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:169586524C>T	ENST00000263686.6	-	3	260	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SELP_ENST00000367786.2_Missense_Mutation_p.E75K|SELP_ENST00000367794.2_Missense_Mutation_p.E75K|SELP_ENST00000367793.2_Missense_Mutation_p.E75K|SELP_ENST00000458599.2_Missense_Mutation_p.E75K|SELP_ENST00000367788.2_Missense_Mutation_p.E75K|SELP_ENST00000367792.2_Missense_Mutation_p.E75K|SELP_ENST00000367791.2_Missense_Mutation_p.E75K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	75	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAATCAATTTCATTTTTATTC	0.403000													159	124					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001640	90001640	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:90001640C>T	ENST00000304984.5	+	3	2860	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	TUBB3_ENST00000315491.7_Missense_Mutation_p.P261S|TUBB3_ENST00000556922.1_Missense_Mutation_p.P608S|TUBB3_ENST00000554444.1_Missense_Mutation_p.P189S|TUBB3_ENST00000555576.1_Intron			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	261					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTGCCCTTCCCGCGCCTGCA	0.677000													13	67					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127518608	127518608	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:127518608A>G	ENST00000262461.2	+	24	3463	c.3274A>G	c.(3274-3276)Atc>Gtc	p.I1092V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I1076V|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1092					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAGGAGATATCAATACCAA	0.323000													3	20					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751011	18751011	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:18751011G>A	ENST00000396170.1	-	14	2761	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	PTPN5_ENST00000396171.4_Silent_p.L531L|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Silent_p.L335L|PTPN5_ENST00000396168.1_Silent_p.L507L|PTPN5_ENST00000396166.3_Silent_p.L137L|PTPN5_ENST00000396167.2_Silent_p.L499L|PTPN5_ENST00000358540.2_Silent_p.L531L	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	531	Substrate binding.|Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTCCTGACGGAGCTGGCACG	0.662000													10	25					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416373	54416373	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:54416373C>T	ENST00000296733.1	-	10	1395	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	CDC20B_ENST00000381375.2_Missense_Mutation_p.M407I|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	407										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACACCAATCCATGGCCTTTA	0.488000													15	82					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906348	5906348	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5906348C>T	ENST00000316987.2	+	1	848	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCCATATTCTTTTGGCTAA	0.408000													44	89					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028887	37028887	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:37028887G>A	ENST00000358047.3	+	1	2456	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	802										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCTGGAGCCTCCCAA	0.592000													28	81					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506102	78506102	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:78506102G>T	ENST00000545128.1	+	1	543	c.5G>T	c.(4-6)gGc>gTc	p.G2V	PCSK5_ENST00000376752.4_Missense_Mutation_p.G2V|PCSK5_ENST00000376767.3_Missense_Mutation_p.G2V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	2				G -> D (in Ref. 1; AAC50643).	anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGACCATGGGCTGGGGGAGC	0.726000													11	17					3.86212e-05	3.87457e-05	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169337870	169337870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:169337870G>A	ENST00000511577.1	-	20	2936	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DDX60L_ENST00000505890.1_Missense_Mutation_p.L897F|DDX60L_ENST00000260184.7_Missense_Mutation_p.L897F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	897	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			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)		GTAGCTGAAAGAACCAAAAAG	0.348000													12	86					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315350	22315350	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22315350G>A	ENST00000390434.3	+	0	513																											TCCACCTGACGAAACCCTCAG	0.512000													18	105					0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167970	21167970	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:21167970G>A	ENST00000555835.1	+	2	1116	c.440G>A	c.(439-441)gGt>gAt	p.G147D	AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.G147D|RNASE4_ENST00000304704.4_Missense_Mutation_p.G147D|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.G147D	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	147					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CACTTTGACGGTTAGATGCCA	0.512000													50	122					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510893	48510893	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:48510893G>A	ENST00000446524.1	+	1	625	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCCCTTATTGAAACTGGTCT	0.433000													68	154					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779602	133779602	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:133779602C>T	ENST00000372338.4	-	7	1477	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R412H|FIBCD1_ENST00000372337.2_Missense_Mutation_p.R254H	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	412	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTGGCAGTTGCGGTACCACCA	0.632000													21	105					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778625	110778625	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:110778625C>T	ENST00000395494.2	+	13	2405	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	ATP2A2_ENST00000539276.2_Silent_p.F641F|ATP2A2_ENST00000308664.6_Silent_p.F641F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	641					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCGGCATCTTCGGGCAGGATG	0.612000													10	77					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:117175431C>T	ENST00000003084.6	+	6	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q237*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	237	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis				19	211					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:22396376C>T	ENST00000263160.3	+	9	1554	c.1117C>T	c.(1117-1119)Cta>Tta	p.L373L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	373					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGATTTTCTAAGAAGCAA	0.388000													62	178					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874951	80874951	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:80874951C>T	ENST00000466387.1	+	22	3396	c.2672C>T	c.(2671-2673)tCg>tTg	p.S891L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.S939L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S925L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S846L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S570L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	939					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			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						AAACACATTTCGCCTGTACAG	0.403000													59	223					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136290691	136290691	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:136290691C>T	ENST00000371929.3	+	4	817	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.R125W|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.R125W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	125	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R125W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCTCAGTTTCGGGTGCACCT	0.607000													8	21					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133053841C>T	ENST00000262283.5	-	8	962	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	OC90_ENST00000443356.2_Missense_Mutation_p.R92Q|OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q			Q02509	OC90_HUMAN	otoconin 90	92					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527000													9	55					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41570923	41570923	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:41570923C>T	ENST00000262415.3	+	7	1046	c.974C>T	c.(973-975)tCc>tTc	p.S325F	DHX8_ENST00000540306.1_Missense_Mutation_p.S325F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	325	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			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)		AAAGTGCTGTCCTTCACTGGG	0.552000													50	95					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19617251	19617251	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:19617251C>T	ENST00000350657.5	-	4	504	c.330G>A	c.(328-330)gtG>gtA	p.V110V	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.V110V	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	110						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCTGCAGGATCACGCCCACGT	0.662000													22	46					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075208	104075208	+	Silent	SNP	G	G	A	rs145880799	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:104075208G>A	ENST00000374874.3	+	6	1204	c.765G>A	c.(763-765)tcG>tcA	p.S255S	LPPR1_ENST00000395056.2_Silent_p.S255S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		255						integral to membrane	catalytic activity										ACCACTGCTCGGACGTGATTG	0.552000													23	162					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831120	86831120	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:86831120A>T	ENST00000237455.4	-	4	2872	c.1904T>A	c.(1903-1905)aTg>aAg	p.M635K	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	635					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AGGCAACCCCATTAGCAAACA	0.448000													55	220					0	0	1	0	0
AADACL2-AS1	101928142	broad.mit.edu	37	3	151502007	151502007	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:151502007C>T	ENST00000483843.2	-	0	439				RP11-64D22.2_ENST00000483636.1_RNA|RP11-454C18.2_ENST00000475855.1_RNA																							CATGGTTTACCCCTGTCCTAT	0.433000													8	19					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870954	61870954	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:61870954C>T	ENST00000217169.3	+	6	1108	c.894C>T	c.(892-894)tcC>tcT	p.S298S	BIRC7_ENST00000342412.6_Silent_p.S280S|BIRC7_ENST00000395306.1_Silent_p.S193S	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	298					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCTTCCTGTCCTAGGCCAGGT	0.731000													7	16					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40864494	40864494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:40864494G>A	ENST00000428826.2	-	12	1335	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	EZH1_ENST00000590078.1_Missense_Mutation_p.S335F|EZH1_ENST00000585893.1_Missense_Mutation_p.S365F|EZH1_ENST00000415827.2_Missense_Mutation_p.S396F|EZH1_ENST00000435174.1_Missense_Mutation_p.S266F|EZH1_ENST00000592743.1_Missense_Mutation_p.S405F			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	405					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGACAGCGAGAGTTAGCCTC	0.483000													20	103					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753560	13753560	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753560C>T	ENST00000265104.4	-	63	10758	c.10654G>A	c.(10654-10656)Gcc>Acc	p.A3552T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3552					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTCCGGGCTTTCATTTCC	0.408000									Kartagener syndrome				36	106					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565729	7565729	+	Silent	SNP	C	C	T	rs148395326		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:7565729C>T	ENST00000379802.3	+	7	1256	c.915C>T	c.(913-915)atC>atT	p.I305I	DSP_ENST00000418664.2_Silent_p.I305I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	305	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		I -> F (in dbSNP:rs17604693).		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACACCAACATCGCTCAGAAAC	0.547000													36	49					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	947051	947051	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:947051C>T	ENST00000264771.4	+	8	721	c.536C>T	c.(535-537)gCt>gTt	p.A179V	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.A63V|TMEM175_ENST00000508204.1_Missense_Mutation_p.A97V	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	179						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCACAGGGCTCTGTACCGA	0.612000													10	34					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444813	54444813	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:54444813C>T	ENST00000391767.1	+	5	726	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.H172Y|CACNG7_ENST00000222212.2_Missense_Mutation_p.H172Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	172					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCAGTATTTTCATTATCGCTA	0.532000													23	116					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:37907434G>A	ENST00000199447.4	+	11	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R251Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	251	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000													9	63					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701244	81701244	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:81701244C>T	ENST00000372292.3	-	6	617	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	193	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCTGGACTTCCCTGGGGACCC	0.507000													25	60					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809012	7809012	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:7809012C>T	ENST00000315599.7	-	6	1016	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	CD209_ENST00000301357.8_Missense_Mutation_p.G196S|CD209_ENST00000593821.1_Missense_Mutation_p.G196S|CD209_ENST00000354397.6_Missense_Mutation_p.G326S|CD209_ENST00000593660.1_Missense_Mutation_p.G262S|CD209_ENST00000394161.5_Missense_Mutation_p.G96S|CD209_ENST00000602261.1_Missense_Mutation_p.G240S|CD209_ENST00000315591.8_Missense_Mutation_p.G308S|CD209_ENST00000601951.1_Missense_Mutation_p.G308S|CD209_ENST00000394173.4_Missense_Mutation_p.G171S|CD209_ENST00000601256.1_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.G288S	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	332	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGAGGTGAGCCGTCCACCCAT	0.537000													18	111					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70329108	70329108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70329108G>A	ENST00000374202.2	-	5	818	c.727C>T	c.(727-729)Cca>Tca	p.P243S	IL2RG_ENST00000374188.3_Missense_Mutation_p.P4L|IL2RG_ENST00000456850.2_Missense_Mutation_p.P53S	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	243					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CAGTGGATTGGGTGGCTCCAT	0.522000									Severe Combined Immunodeficiency, X-linked				15	93					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78359585	78359585	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:78359585C>T	ENST00000255189.3	-	2	155	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000380311.4_5'UTR|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	43					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATTGTGTTTCTGCAGATAAG	0.458000													12	81					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291907	61291907	+	Silent	SNP	G	G	A	rs144339707		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:61291907G>A	ENST00000263846.4	-	6	1047	c.720C>T	c.(718-720)atC>atT	p.I240I	SYT7_ENST00000539008.1_Silent_p.I523I|SYT7_ENST00000542670.1_Silent_p.I448I|SYT7_ENST00000540677.1_Silent_p.I315I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.I359I|SYT7_ENST00000542836.1_Silent_p.I284I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	240						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTTAAGGGGGATGGACACCT	0.567000													11	41					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161292770	161292770	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:161292770C>T	ENST00000428797.2	+	5	586	c.231C>T	c.(229-231)ttC>ttT	p.F77F	GABRA1_ENST00000437025.2_Silent_p.F77F|GABRA1_ENST00000023897.6_Silent_p.F77F|GABRA1_ENST00000393943.4_Silent_p.F77F|GABRA1_ENST00000420560.1_Silent_p.F77F|GABRA1_ENST00000444819.1_Silent_p.F77F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	77					gamma-aminobutyric acid signaling pathway|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			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACCAGTTTCGGACCCGTTT	0.378000													34	132					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235891	3235891	+	Missense_Mutation	SNP	G	G	A	rs137882293		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3235891G>A	ENST00000217939.6	-	6	5985	c.5831C>T	c.(5830-5832)tCg>tTg	p.S1944L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1944	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACGGTGACCGAAAGCAAGAC	0.552000													17	85					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25327838	25327838	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:25327838C>T	ENST00000546682.1	+	0	174				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTGGTGTGGGCTTCTTCAGGT	0.488000													8	70					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500616	90500616	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:90500616C>T	ENST00000325643.5	+	4	1280	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ACCCTAAATCCCTTCTGGAAC	0.562000													13	91					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049363	8049363	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:8049363T>A	ENST00000317276.4	-	17	2368	c.2131A>T	c.(2131-2133)Aag>Tag	p.K711*	PER1_ENST00000354903.5_Nonsense_Mutation_p.K695*|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Nonsense_Mutation_p.K691*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	711	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTCCGCCTTATTGGCCAGG	0.652000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					12	84					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46807518	46807518	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:46807518T>C	ENST00000262738.3	-	6	4749	c.4750A>G	c.(4750-4752)Act>Gct	p.T1584A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1584	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGTCTGAGTGCCCTGGGCA	0.632000													16	60					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102300677	102300677	+	RNA	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:102300677C>G	ENST00000561463.1	+	0	8723																											AACCTGCAGACACTTGTGGAG	0.582000													5	50					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377300	39377300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:39377300C>T	ENST00000545653.1	-	11	2056	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	DAB2_ENST00000509337.1_Missense_Mutation_p.G509E|DAB2_ENST00000339788.6_Missense_Mutation_p.G312E|DAB2_ENST00000320816.6_Missense_Mutation_p.G530E	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	530					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)			CATCATGGCTCCCGGAGCCAT	0.517000													18	93					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72541687	72541687	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:72541687G>A	ENST00000299290.1	-	4	536	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TBATA_ENST00000456372.2_Silent_p.F49F|TBATA_ENST00000545575.1_Silent_p.F39F	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GGATCCGCTCGAAATCCACAA	0.602000													37	63					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427852	10427852	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10427852C>T	ENST00000245503.5	-	35	5490	c.5106G>A	c.(5104-5106)gaG>gaA	p.E1702E	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1702E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCTCCTCTCTGTCTGTT	0.577000													20	127					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090789	143090789	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:143090789G>T	ENST00000367603.2	-	5	5829	c.5087C>A	c.(5086-5088)tCc>tAc	p.S1696Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1696Y|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1696Y	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTTTGCTTGGACCTCAGAAG	0.463000													41	124					6.33695e-27	6.42468e-27	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140735963	140735963	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140735963G>A	ENST00000571252.1	+	1	1196	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)			aagaCCTATGGAAATTATTAT	0.433000													3	10					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170364	107170364	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:107170364C>T	ENST00000390633.2	-	0	64																											CAGGTCCAGTCCATGGTGATG	0.493000													7	115					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538490	55538490	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:55538490C>T	ENST00000220676.1	+	4	2196	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	683					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			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)			GCAATAAATTCCAGGTATCAA	0.338000													10	53					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941353	13941353	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:13941353G>A	ENST00000254323.2	+	13	2648	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R654Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	820							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCGCTCCGGGCCTACAAG	0.701000													13	89					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66410003	66410003	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:66410003G>A	ENST00000404260.3	+	12	1864	c.1556G>A	c.(1555-1557)aGg>aAg	p.R519K	MAST4_ENST00000403625.2_Missense_Mutation_p.R516K|MAST4_ENST00000405643.1_Missense_Mutation_p.R337K|MAST4_ENST00000403666.1_Missense_Mutation_p.R327K|MAST4_ENST00000261569.7_Missense_Mutation_p.R322K|MAST4_ENST00000490016.2_Missense_Mutation_p.R327K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	519						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACATTCCCAGGTACATCATT	0.468000													5	38					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426737	47426737	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:47426737C>T	ENST00000377045.4	+	10	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	328	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GTTTCGAGGGCGGTGGCATGG	0.617000													5	39					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39577662C>T	ENST00000225550.3	-	6	1197	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GTGGCAATCTCGTTCTCCAAC	0.557000													14	79					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448053	24448053	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:24448053C>T	ENST00000270800.1	-	7	1005	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	323						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TAGGTGATCTCGGACAGGCTA	0.642000													6	106					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242614	126242614	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126242614T>C	ENST00000394329.3	+	1	5061	c.5048T>C	c.(5047-5049)aTt>aCt	p.I1683T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1683	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						CTCTTTACTATTGGACGACAT	0.448000													31	208					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836372	94836372	+	Silent	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:94836372G>C	ENST00000371531.1	+	6	1242	c.864G>C	c.(862-864)ggG>ggC	p.G288G	CYP26A1_ENST00000224356.4_Silent_p.G357G|CYP26A1_ENST00000394139.1_Silent_p.G288G	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	357					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AATACATCGGGTGTGTTATTA	0.393000													20	83					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749081	51749081	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:51749081C>T	ENST00000395052.3	+	4	1526	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	GRM2_ENST00000442933.2_Missense_Mutation_p.P431L|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	431					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATCCTAGCCCCCTTTCGCCCA	0.542000													14	72					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807734	86807734	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:86807734C>T	ENST00000441037.2	+	10	1289	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	AGBL1_ENST00000421325.2_Silent_p.S398S|AGBL1_ENST00000389298.3_Silent_p.S129S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	398					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTGCAATCCAATAGTCTCA	0.483000													16	86					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753443	13753443	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753443C>T	ENST00000265104.4	-	63	10875	c.10771G>A	c.(10771-10773)Gga>Aga	p.G3591R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAATAATTCCATTTTGAATG	0.388000									Kartagener syndrome				21	99					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779774	50779774	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:50779774C>T	ENST00000404971.1	-	10	3169	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	NRXN1_ENST00000406859.3_Silent_p.V570V|NRXN1_ENST00000402717.3_Silent_p.V562V|NRXN1_ENST00000406316.2_Silent_p.V570V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.V562V|NRXN1_ENST00000401669.2_Silent_p.V570V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	570	Laminin G-like 3.				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			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)			CTCCATCATTCACTTTCTTCA	0.458000													47	128					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216267	11216267	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:11216267G>A	ENST00000558518.1	+	4	872	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	LDLR_ENST00000558013.1_Missense_Mutation_p.E229K|LDLR_ENST00000535915.1_Missense_Mutation_p.E188K|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.E229K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	229	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ATCTGACGAGGAAAACTGCGG	0.637000													4	51					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691585	41691585	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:41691585C>T	ENST00000313860.7	+	25	3110	c.3056C>T	c.(3055-3057)cCt>cTt	p.P1019L	LIMCH1_ENST00000396595.3_Missense_Mutation_p.P838L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P1005L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P993L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P852L|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P992L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P916L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P846L|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1403L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P833L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P826L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P833L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1019	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTGGGCTTCCTTTGGGTAAA	0.403000													17	84					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	865586	865586	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:865586G>A	ENST00000323510.4	-	12	1347	c.1348C>T	c.(1348-1350)Ccg>Tcg	p.P450S	BRD9_ENST00000467963.1_Missense_Mutation_p.P546S|BRD9_ENST00000483173.1_Missense_Mutation_p.P493S|BRD9_ENST00000388890.4_Missense_Mutation_p.P430S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	546							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTGGACGACGGCCGAGAGCCG	0.657000													12	97					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078148	46078148	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:46078148C>T	ENST00000397907.1	+	1	300	c.252C>T	c.(250-252)ctC>ctT	p.L84L	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	84	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCACTGCCCTCTGCAGACCCA	0.617000													8	88					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182008	128182008	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:128182008G>A	ENST00000469083.1	-	2	2638	c.81C>T	c.(79-81)gcC>gcT	p.A27A	DNAJB8_ENST00000319153.3_Silent_p.A27A			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	27	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GCCAACGAAGGGCCAGCTTGC	0.577000													32	245					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428411	56428411	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:56428411G>A	ENST00000262032.5	+	12	1421	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.G352S|IKZF4_ENST00000431367.2_Missense_Mutation_p.G250S|IKZF4_ENST00000547791.1_Missense_Mutation_p.G307S			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	352					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACTCGGGTGGCTATGAAAA	0.567000													19	159					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088237	9088237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9088237G>A	ENST00000397910.4	-	1	3781	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1193	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						AGGTAAGTTGGGCATGTTCCA	0.473000													41	180					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113039	234113039	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:234113039C>T	ENST00000359570.5	+	28	3207	c.3207C>T	c.(3205-3207)ccC>ccT	p.1069_1069insP	INPP5D_ENST00000455936.2_Missense_Mutation_p.833_833insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.833_833insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCCGCGCCCCGGCTGCGCT	0.726000													4	33					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746065	47746065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:47746065G>A	ENST00000360380.3	-	13	2428	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	STIL_ENST00000243182.6_Missense_Mutation_p.P689S|STIL_ENST00000371877.3_Missense_Mutation_p.P689S|STIL_ENST00000337817.5_Missense_Mutation_p.P689S|STIL_ENST00000396221.2_Missense_Mutation_p.P689S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	689	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATATGTGAAGGCGGTCTTGCC	0.483000													71	94					0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43786558	43786558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:43786558G>A	ENST00000291527.2	-	1	145	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	16					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						GGCCAGCATGGACACCAGGAC	0.662000													5	42					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687133	158687133	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158687133T>A	ENST00000368146.1	-	1	820	c.821A>T	c.(820-822)tAc>tTc	p.Y274F	OR6K3_ENST00000368145.1_Missense_Mutation_p.Y258F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAACGCAAGTACATGAGTGA	0.458000													89	82					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	399219	399219	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:399219G>A	ENST00000432829.2	+	26	3306	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	DOCK8_ENST00000382331.1_Missense_Mutation_p.R367Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1065Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.R965Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.R532Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1065					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTCATGGATCGGGGCTTTGTG	0.478000													12	73					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103431143	103431143	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:103431143G>A	ENST00000493442.1	+	4	736	c.570G>A	c.(568-570)gtG>gtA	p.V190V	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	190										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCACATAGGTGGAATATATTG	0.343000													16	75					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115346520	115346520	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:115346520G>A	ENST00000357872.4	+	14	2300	c.2176G>A	c.(2176-2178)Gtc>Atc	p.V726I		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		726					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGGCATACAGTCTTGGTAAA	0.303000													3	23					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581619	53581619	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:53581619C>T	ENST00000342160.3	-	60	8926	c.8469G>A	c.(8467-8469)atG>atA	p.M2823I	HUWE1_ENST00000262854.6_Missense_Mutation_p.M2823I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2823					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGATAACTCCATCTGAGTTG	0.488000													14	71					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58265022	58265022	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58265022C>T	ENST00000317178.5	+	3	787	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GACTTTTTGTCCAGCTTGAGA	0.398000													36	82					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622698	20622698	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:20622698G>A	ENST00000525748.1	+	2	300	c.27G>A	c.(25-27)atG>atA	p.M9I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	9					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCAAGGAAATGAATAAACTGC	0.567000													6	10					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163268	211163268	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:211163268G>A	ENST00000352451.3	-	3	327	c.180C>T	c.(178-180)ctC>ctT	p.L60L	MYL1_ENST00000341685.4_Silent_p.L16L|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	60	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGTCAAACAGGAGAAATGCCT	0.423000													24	77					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541374	55541374	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55541374G>A	ENST00000361760.1	+	1	461	c.461G>A	c.(460-462)gGg>gAg	p.G154E		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TATACATGGGGGATAGTGTGC	0.403000													42	199					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224822295	224822295	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:224822295C>T	ENST00000258383.3	+	1	175	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	36					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGGGATTCCGCGCCGCCTT	0.682000													19	46					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68216503	68216503	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:68216503C>T	ENST00000294304.7	+	23	4919	c.4813C>T	c.(4813-4815)Ccg>Tcg	p.P1605S	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1605	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCTCTTCCCGCCCCCTCC	0.622000													8	60					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823896	70823896	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70823896G>A	ENST00000373695.1	+	7	1306	c.769G>A	c.(769-771)Gac>Aac	p.D257N	ACRC_ENST00000373696.3_Missense_Mutation_p.D257N			Q96QF7	ACRC_HUMAN	acidic repeat containing	257	Asp/Ser-rich.					nucleus		p.D257N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557000													12	228					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032689	55032689	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55032689T>C	ENST00000417545.2	+	2	444	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	104						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAAGATGTTCTGTGAAGTGGA	0.537000													17	97					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040235	87040235	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:87040235G>A	ENST00000370563.3	+	10	1522	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	494						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGAAAGTAAGGGATTAACACT	0.358000													37	45					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112520	248112520	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:248112520C>T	ENST00000357191.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(2)|p.R121S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCTATGATCGTTACATTGC	0.443000													66	197					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752448	62752448	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:62752448G>A	ENST00000331425.6	-	0	987					NR_003952.1																						GTCTAGTAAGGTTTGAGGACC	0.443000													8	47					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44945382	44945382	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:44945382C>T	ENST00000296125.4	+	9	1046	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	326					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F326L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCAGGAATTTCCATGTGTGGA	0.592000													41	166					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756609	122756609	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:122756609C>T	ENST00000245838.8	-	30	3816	c.3785_splice	c.e30+1	p.S1262_splice	THOC2_ENST00000491737.1_Splice_Site_p.S1147_splice|THOC2_ENST00000355725.4_Splice_Site_p.S1262_splice	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1262					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGTTCCTACCTGTTAGAGCC	0.383000													10	46					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69185919	69185919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:69185919G>A	ENST00000344157.4	-	12	1941	c.1606C>T	c.(1606-1608)Cga>Tga	p.R536*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R518*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R536*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	536	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCTTCTGGTCGACGCCTACAC	0.363000													14	51					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20598128	20598128	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:20598128C>T	ENST00000504154.1	+	32	3663	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	SLIT2_ENST00000273739.5_Silent_p.I1150I|SLIT2_ENST00000503837.1_Silent_p.I1133I|SLIT2_ENST00000503823.1_Silent_p.I1129I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1137	EGF-like 6.				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			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						CTCAGTGTATCGTCAGAATAA	0.408000													17	88					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657121	81657121	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:81657121G>A	ENST00000550584.2	-	30	3899	c.3604C>T	c.(3604-3606)Cct>Tct	p.P1202S	PPFIA2_ENST00000407050.4_Missense_Mutation_p.P1101S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P1202S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1187S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1196S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P1097S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1190S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P1049S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P738S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1181S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P388S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1101										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCACGAGGAGGAAACTGCCTT	0.438000													19	44					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490331	42490331	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42490331G>A	ENST00000545399.1	-	5	600	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ATP1A3_ENST00000543770.1_Silent_p.F147F|ATP1A3_ENST00000602133.1_Silent_p.F106F|ATP1A3_ENST00000302102.5_Silent_p.F136F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	136					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTAGTAGGAGAAGCAGCCAG	0.612000													28	78					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994623	994623	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:994623C>T	ENST00000537687.1	+	19	6076	c.5433C>T	c.(5431-5433)tcC>tcT	p.S1811S	WNK1_ENST00000535572.1_Silent_p.S1304S|WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000315939.6_Silent_p.S1551S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1551					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCTCTTCCTCTCCTGGAG	0.478000													79	550					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309706	37309706	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:37309706C>T	ENST00000356725.4	-	5	1660	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGAGAAAGGCTTTTCCACAT	0.403000													39	104					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688115	18688115	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:18688115C>T	ENST00000406451.3	+	11	1417	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	HDAC9_ENST00000441542.2_Missense_Mutation_p.P426S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P410S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P346S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P423S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P382S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P395S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P421S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P423S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P379S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	423					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCTCAGTCTCCCTTGGCAAC	0.448000													39	96					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505313	155505313	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:155505313G>A	ENST00000302053.3	-	6	2642	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	855	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGCGAACAGCCCTGAGGGA	0.478000													21	165					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772685	27772685	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:27772685C>T	ENST00000333743.6	+	8	1226	c.972C>T	c.(970-972)ttC>ttT	p.F324F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	324					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCGTGTGCTTCCTGTTTGTCT	0.557000													7	52					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355450	10355450	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10355450C>T	ENST00000255381.2	-	27	3656	c.3546G>A	c.(3544-3546)ctG>ctA	p.L1182L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1182					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGACTCTTCCAGGTCCCTGC	0.577000													31	208					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167675200	167675200	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:167675200T>A	ENST00000519204.1	+	26	7011	c.6893T>A	c.(6892-6894)cTg>cAg	p.L2298Q	TENM2_ENST00000518659.1_Missense_Mutation_p.L2419Q|TENM2_ENST00000520394.1_Missense_Mutation_p.L2180Q|TENM2_ENST00000403607.2_Missense_Mutation_p.L2243Q|TENM2_ENST00000545108.1_Missense_Mutation_p.L2418Q					teneurin transmembrane protein 2																		TATGACCCCCTGACCAAGCTG	0.532000													22	99					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845063	32845063	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:32845063C>T	ENST00000311921.3	+	2	1519	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.R443C|ZNF507_ENST00000544431.1_Missense_Mutation_p.R443C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGATGTTTATCGTGCTGATAA	0.448000													23	151					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077734	53077734	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:53077734C>T	ENST00000276480.7	-	12	1939	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	419						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGACCCCTTCCTGTGCATCC	0.408000													35	205					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970470	160970470	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160970470C>T	ENST00000368026.6	-	4	613	c.339G>A	c.(337-339)gaG>gaA	p.E113E	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	113	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TGCCGCCTTCCTCAGAGACCA	0.532000													52	70					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5010961	5010961	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5010961C>T	ENST00000380390.1	+	3	399	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Silent_p.F61F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	61					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCAACAATTCCATCGGAATG	0.522000													5	35					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590103	141590103	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:141590103C>T	ENST00000442267.2	-	9	1630	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	519	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCACGCATGCTCTCCGGGAT	0.607000													9	43					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116116603	116116603	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:116116603G>A	ENST00000374183.4	+	2	324	c.285G>A	c.(283-285)aaG>aaA	p.K95K	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	95					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCCGGGGAAGAATCAAAGAG	0.522000													6	45					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572699	38572699	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:38572699C>T	ENST00000222345.6	+	3	1003	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	165					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTCCTCCCCCTTCGGCAC	0.716000													21	70					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45017003	45017003	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:45017003C>T	ENST00000454753.1	-	0	1715							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGTTGTTTTCCTTGAGGGCC	0.527000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909164	123909164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123909164G>A	ENST00000330487.5	-	1	553	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTTCAGGATGGGCGGTGCGTC	0.537000													51	417					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869877	89869877	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:89869877G>A	ENST00000268124.5	-	9	2011	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	POLG_ENST00000442287.2_Missense_Mutation_p.P560S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	560					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGCCGCTTGGGCAGGAGCTCT	0.622000								DNA polymerases (catalytic subunits)					33	62					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71077943	71077943	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:71077943C>T	ENST00000283228.2	-	10	1913	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	PTPRR_ENST00000440835.2_Silent_p.V242V|PTPRR_ENST00000342084.4_Silent_p.V375V|PTPRR_ENST00000378778.1_Silent_p.V281V|PTPRR_ENST00000549308.1_Silent_p.V242V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	487	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCATAACAATCACAGGGCTGT	0.423000													23	77					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378521	114378521	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:114378521G>A	ENST00000312719.5	-	5	2129	c.941C>T	c.(940-942)cCa>cTa	p.P314L	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P314L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	314					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTCCACCTCTGGATGAATGCG	0.413000													26	117					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129833587	129833587	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:129833587G>A	ENST00000421865.2	+	63	8986	c.8937G>A	c.(8935-8937)ggG>ggA	p.G2979G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2979	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCTTCTGGGGATCAGTAGTC	0.363000													22	135					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534395	52534395	+	Silent	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:52534395T>A	ENST00000261839.7	-	20	2567	c.2406A>T	c.(2404-2406)gcA>gcT	p.A802A	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	802	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAAGGCCACTGCAGTAATAG	0.478000													51	366					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155688	151155688	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:151155688C>T	ENST00000282466.3	-	6	6660	c.6661G>A	c.(6661-6663)Gat>Aat	p.D2221N	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2221	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGTGTCATCCCCACTGGGA	0.423000													58	178					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980706	110980706	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:110980706G>A	ENST00000524391.1	-	4	2146	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	KCNV1_ENST00000297404.1_Missense_Mutation_p.P372S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	372						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTTGTGTCAGGAATGCTTTGC	0.478000													28	85					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554514	4554514	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4554514C>T	ENST00000228837.2	-	1	266	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	75					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TAGCCACTTTCCCAGTTCACC	0.657000													13	132					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021839	132021839	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:132021839G>A	ENST00000356920.5	+	15	2905	c.2811G>A	c.(2809-2811)gaG>gaA	p.E937E	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	937	Actin-like.						ATP binding										CCTCCCTAGAGAAGAGCTACG	0.617000													42	239					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145093099	145093099	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:145093099C>T	ENST00000367545.3	+	58	8552	c.8552C>T	c.(8551-8553)tCc>tTc	p.S2851F	UTRN_ENST00000367526.4_Missense_Mutation_p.S406F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2851	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTTTCAATCCCTTGGTAAG	0.269000													12	99					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541229	178541229	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:178541229G>A	ENST00000251582.7	-	22	3376	c.3275C>T	c.(3274-3276)tCc>tTc	p.S1092F		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1092	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGTTACAGGACTTGCAGCA	0.542000													13	40					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56418155	56418155	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:56418155G>A	ENST00000370754.5	-	61	15341	c.15342C>T	c.(15340-15342)acC>acT	p.T5114T	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.T4936T|DST_ENST00000421834.2_Silent_p.T2848T|DST_ENST00000446842.2_Silent_p.T4610T|DST_ENST00000361203.3_Silent_p.T4934T|DST_ENST00000244364.6_Silent_p.T2522T|DST_ENST00000370788.2_Silent_p.T2848T			Q03001	DYST_HUMAN	dystonin	4934					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCCCAATTGGTTTTAATTG	0.333000													18	121					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898966	36898966	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:36898966G>A	ENST00000301807.6	-	12	2362	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TRANK1_ENST00000429976.2_Silent_p.F705F|TRANK1_ENST00000428977.2_Silent_p.F155F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	705					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCCTCTGGGAAAGACGGAT	0.562000													28	55					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734858	15734858	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:15734858G>A	ENST00000441682.2	+	0	1130							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGCCGGCAGGAGGTGCAAGA	0.582000													20	61					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188223985	188223985	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:188223985G>A	ENST00000409998.1	-	12	1577	c.796C>T	c.(796-798)Cct>Tct	p.P266S	CALCRL_ENST00000392370.3_Missense_Mutation_p.P266S|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.P266S			Q16602	CALRL_HUMAN	calcitonin receptor-like	266						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATACAAGCAGGAATCAGTGGA	0.234000													6	24					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303236	7303236	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7303236C>T	ENST00000537408.1	+	14	2916	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F	CLSTN3_ENST00000266546.6_Missense_Mutation_p.S781F			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	781					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TTCCGGCTTTCCTGCTCGGAA	0.557000													34	109					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090353	114090353	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:114090353C>T	ENST00000374428.1	-	1	447	c.448G>A	c.(448-450)Gac>Aac	p.D150N	OR2K2_ENST00000302681.1_Missense_Mutation_p.D121N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ACATAACGGTCATATGCCATC	0.527000													25	65					0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100883103	100883103	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100883103G>A	ENST00000223136.4	-	5	523	c.443C>T	c.(442-444)tCc>tTc	p.S148F	FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000442303.1_3'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	148					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTTGGACTTGGACACAGCAAG	0.647000													4	11					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113387	94113387	+	Silent	SNP	G	G	A	rs141761818	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:94113387G>A	ENST00000243673.2	-	4	1371	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	GPR83_ENST00000539203.2_Silent_p.L358L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	400						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTGGGCAGGAGGTTATTGG	0.582000													44	43					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765861	14765861	+	Silent	SNP	C	C	T	rs143842724	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:14765861C>T	ENST00000253673.5	-	6	610	c.510G>A	c.(508-510)tcG>tcA	p.S170S	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Silent_p.S118S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	170					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTAGAACTTTCGATTCCACAT	0.413000													25	100					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123344339	123344339	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123344339C>T	ENST00000253083.4	+	24	2552	c.2427C>T	c.(2425-2427)cgC>cgT	p.R809R		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	809	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCAGGCACGCCACGCCAGCT	0.677000													40	47					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216099	55216099	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:55216099G>A	ENST00000340465.2	+	5	505	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	140						integral to membrane	receptor activity			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)			GCATGTGTAGGGGATGTGGTC	0.473000													37	263					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64568397	64568397	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64568397G>A	ENST00000294066.2	-	9	728	c.637C>T	c.(637-639)Cct>Tct	p.P213S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P213S|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	213	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGGAACAGAGGGGGCTGCAGC	0.647000													14	80					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737219	106737219	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:106737219G>A	ENST00000369701.3	+	4	1149	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	308						integral to membrane	neuropeptide receptor activity			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)		CAAGCAAGAGGACTGGGTGCT	0.458000													15	48					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913500	87913500	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:87913500C>T	ENST00000380079.4	-	2	186	c.85G>A	c.(85-87)Gat>Aat	p.D29N	STEAP4_ENST00000301959.5_Missense_Mutation_p.D29N|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.D29N|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	29					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTCCAAAATCACCAGTTCCA	0.393000													42	85					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138933	161138933	+	Missense_Mutation	SNP	C	C	G	rs12735723	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:161138933C>G	ENST00000367999.4	+	7	1033	c.767C>G	c.(766-768)cCg>cGg	p.P256R	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.P256R|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	256			P -> R (in dbSNP:rs12735723).		heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGAGGCCAGCCGGTCTGTGGG	0.577000													6	99					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	G	A	rs150597008		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:121746665G>A	ENST00000452319.1	+	14	3235	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_ENST00000361492.4_Missense_Mutation_p.D1059N|GLI2_ENST00000314490.11_Missense_Mutation_p.D731N			P10070	GLI2_HUMAN	GLI family zinc finger 2	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000													24	61					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684069	3684069	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:3684069G>A	ENST00000344754.4	-	5	1002	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P335S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	335	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCCAGGATGGGACCTGCTGGG	0.607000													16	85					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736023	28736023	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28736023G>A	ENST00000257197.3	-	4	715	c.454C>T	c.(454-456)Cca>Tca	p.P152S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P152S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	152	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACGTGTTGTGGAAATGGACCC	0.398000													18	62					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92798971	92798971	+	Silent	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:92798971A>T	ENST00000370343.3	+	9	1588	c.1479A>T	c.(1477-1479)atA>atT	p.I493I		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	493						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCACTGATAGACTCAAGTT	0.328000													16	78					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52815970	52815970	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:52815970C>T	ENST00000273283.2	+	7	726	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH1_ENST00000542827.1_Silent_p.F234F|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Silent_p.F92F|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	234					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			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)		ATGTGCTGTTCCGTCCCACCG	0.517000													18	135					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744025	147744025	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:147744025A>G	ENST00000370460.2	+	3	1256	c.777A>G	c.(775-777)ttA>ttG	p.L259L	AFF2_ENST00000342251.3_Silent_p.L255L|AFF2_ENST00000370457.5_Silent_p.L255L|AFF2_ENST00000370458.1_Silent_p.L255L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	259					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTTATTAGCTCCTAGCA	0.488000													38	287					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102256891	102256891	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:102256891C>T	ENST00000370345.3	-	17	2234		c.e17+1			NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAAGGGGTACCTGCAGAGCC	0.597000													9	44					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797304	48797304	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:48797304C>T	ENST00000316623.5	-	16	2333	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	626	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACGCAACGCCCATTCATGC	0.453000													37	121					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305378	206305378	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:206305378C>T	ENST00000406610.2	+	20	3233	c.3026C>T	c.(3025-3027)cCa>cTa	p.P1009L	PARD3B_ENST00000358768.2_Missense_Mutation_p.P947L|PARD3B_ENST00000351153.1_Missense_Mutation_p.P940L|PARD3B_ENST00000349953.3_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1009					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCATACCATCCACTGGTTCCA	0.433000													19	36					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742068	41742068	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:41742068G>A	ENST00000352645.4	+	14	1778	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	ZC3H7B_ENST00000351589.4_Silent_p.E507E	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	523					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCATCAGGAGGAGATCGACG	0.607000													57	208					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884894	15884894	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:15884894C>T	ENST00000285670.2	-	5	658	c.483_splice	c.e5-1	p.D162_splice	SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTCCTCATCCTTCAGAAAA	0.413000													15	139					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26312962	26312962	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:26312962C>T	ENST00000265944.5	+	9	909	c.743C>T	c.(742-744)cCa>cTa	p.P248L	MYO3A_ENST00000543632.1_Missense_Mutation_p.P248L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	248	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATCCACCCCCAAAACTAAGG	0.388000													23	103					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718274	103718274	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:103718274C>T	ENST00000245312.3	-	1	922	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	109					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGGCAGTTCCTCCAGGGCA	0.507000													15	155					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714371	49714371	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49714371C>T	ENST00000296456.5	+	10	1313	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	APEH_ENST00000438011.1_Missense_Mutation_p.P305S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	305					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTCTTCTCCCCGGCTGAG	0.587000													51	104					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053265	238053265	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:238053265G>A	ENST00000366570.4	-	3	460	c.302C>T	c.(301-303)tCc>tTc	p.S101F	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	101					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATGTAGTGGGAGTCCTGGAG	0.557000													89	196					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188302	7188302	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:7188302G>A	ENST00000486284.1	+	2	957	c.683G>A	c.(682-684)gGa>gAa	p.G228E	GRM7_ENST00000357716.4_Missense_Mutation_p.G228E|GRM7_ENST00000403881.1_Missense_Mutation_p.G228E|GRM7_ENST00000389336.4_Missense_Mutation_p.G228E|GRM7_ENST00000402647.2_Missense_Mutation_p.G228E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	228					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCATCGGAAGGAAGTTATGGA	0.512000													11	79					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596868	72596868	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:72596868G>A	ENST00000264839.7	+	1	142	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	RIMS1_ENST00000491071.2_Missense_Mutation_p.E48K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E48K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E48K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E48K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E48K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E48K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E48K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	48	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAAGAGGAGGAAAAAGAAGA	0.597000													3	9					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60638743	60638743	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:60638743C>T	ENST00000278853.5	+	6	1068	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	356	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCATCCACATCCAAAAGGGGC	0.612000													15	42					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115454118	115454118	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:115454118G>A	ENST00000369522.3	+	18	1684	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E482K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	482					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGATTTGGAAATACAGTT	0.299000													15	19					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17688074	17688074	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:17688074G>A	ENST00000399839.1	-	3	699	c.429C>T	c.(427-429)atC>atT	p.I143I	CECR1_ENST00000449907.2_Silent_p.I101I|CECR1_ENST00000399837.2_Silent_p.I143I|CECR1_ENST00000262607.3_Silent_p.I143I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	143	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGAACTGCATGATCCCCCTTG	0.527000													18	130					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970087	110970087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:110970087C>T	ENST00000394780.3	+	16	1792	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Nonsense_Mutation_p.R490*	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	594					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CAAGAAAATTCGAGGGAAAGA	0.433000													43	226					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44589982	44589982	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44589982C>T	ENST00000421176.3	+	5	567	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTCAAGACTCCATAAGTAGCT	0.478000													11	69					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813385	38813385	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:38813385C>T	ENST00000359357.3	+	34	4484	c.4230C>T	c.(4228-4230)atC>atT	p.I1410I	DNAH8_ENST00000449981.2_Silent_p.I1627I|DNAH8_ENST00000441566.1_Silent_p.I1410I					dynein, axonemal, heavy chain 8									p.I1410I(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						AGAAGGATATCGAAGCCAAGC	0.383000													14	91					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113384616	113384616	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:113384616C>T	ENST00000228928.7	+	4	884	c.705C>T	c.(703-705)ttC>ttT	p.F235F	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	235	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGACCATCTTCGCCTGGGAGC	0.587000													14	17					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60638744	60638744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:60638744C>T	ENST00000278853.5	+	6	1069	c.1069C>T	c.(1069-1071)Caa>Taa	p.Q357*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	357	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATCCACATCCAAAAGGGGCC	0.612000													15	44					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975448	183975448	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:183975448C>T	ENST00000402825.3	+	2	384	c.384C>T	c.(382-384)ctC>ctT	p.L128L	ECE2_ENST00000324557.4_Silent_p.L128L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	128	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGTGGTGCTCGAGAAGGGCA	0.612000													36	57					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728174	20728174	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:20728174G>A	ENST00000427401.4	-	4	929	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	279					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTATCTTA	0.413000													10	65					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869643	151869643	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:151869643G>A	ENST00000329342.5	+	3	558	c.333G>A	c.(331-333)agG>agA	p.R111R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	111	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCAGTAGGAAGGTGGCCA	0.547000													31	204					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887475	23887475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:23887475C>T	ENST00000355349.3	-	30	4275	c.4113G>A	c.(4111-4113)tgG>tgA	p.W1371*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1371					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTTGGTCCTCCACTGGGCCA	0.627000													14	133					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721145	160721145	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:160721145G>A	ENST00000274547.2	-	11	1699	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	GABRB2_ENST00000520240.1_Silent_p.F456F|GABRB2_ENST00000517547.1_Silent_p.F296F|GABRB2_ENST00000393959.1_Silent_p.F494F|GABRB2_ENST00000353437.6_Silent_p.F456F|GABRB2_ENST00000517901.1_Silent_p.F393F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	494					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCACTGGGAAGAATATGCGGG	0.468000													15	89					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:70071218G>A	ENST00000370598.1	+	29	4874	c.4053G>A	c.(4051-4053)atG>atA	p.M1351I	BAI3_ENST00000546190.1_Missense_Mutation_p.M315I|BAI3_ENST00000238918.8_Missense_Mutation_p.M557I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000													29	138					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22281076	22281076	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:22281076C>T	ENST00000324559.8	+	15	1736	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	473						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			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						TGTCTCTTGTCGTCACCAGTA	0.383000													6	90					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7848075G>A	ENST00000329913.3	-	1	297	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGAAAGCGAAGTACATTC	0.483000													13	101					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939005	150939005	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150939005G>A	ENST00000392811.2	-	8	1170	c.696C>T	c.(694-696)gaC>gaT	p.D232D	SMARCD3_ENST00000262188.8_Silent_p.D245D|SMARCD3_ENST00000356800.2_Silent_p.D232D	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	245					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACACTCAGGTCCCCAGGCC	0.637000													19	13					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75693664	75693664	+	Missense_Mutation	SNP	C	C	T	rs146302743		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:75693664C>T	ENST00000315758.5	+	7	735	c.641C>T	c.(640-642)cCc>cTc	p.P214L	MDH2_ENST00000432020.2_Missense_Mutation_p.P172L|MDH2_ENST00000443006.1_Missense_Mutation_p.P107L	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	214					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	p.P214L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CAGTGCACCCCCAAGGTGGAC	0.637000													10	30					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577428	9577428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9577428C>T	ENST00000301480.4	-	10	2408	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R732Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGAATTCGCACATGATT	0.398000													29	110					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61891073	61891073	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:61891073A>T	ENST00000577390.1	-	4	1571	c.617T>A	c.(616-618)gTt>gAt	p.V206D	CDH8_ENST00000577730.1_Missense_Mutation_p.V206D|CDH8_ENST00000584337.1_Missense_Mutation_p.V206D|CDH8_ENST00000299345.6_Missense_Mutation_p.V206D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATACTATAAACCAACTTTGC	0.378000													26	81					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59368785	59368785	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:59368785G>A	ENST00000263847.1	-	5	1574	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	365					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCATGGTGATGATCTCAGGTG	0.398000													5	76					0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230861559	230861559	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:230861559G>A	ENST00000373652.3	+	4	626	c.205G>A	c.(205-207)Gat>Aat	p.D69N	FBXO36_ENST00000409992.1_Missense_Mutation_p.D80N|FBXO36_ENST00000283946.3_Missense_Mutation_p.D100N			Q8NEA4	FBX36_HUMAN	F-box protein 36	100										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTCTCAGACGATTTGCTCCT	0.358000													25	209					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948838	133948838	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:133948838A>T	ENST00000414371.2	+	4	429	c.256A>T	c.(256-258)Att>Ttt	p.I86F	FAM122C_ENST00000370784.4_Missense_Mutation_p.I50F|FAM122C_ENST00000370785.3_Missense_Mutation_p.I50F|FAM122C_ENST00000445123.1_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	50										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CATGTTAAGAATTAGGACAAA	0.328000													15	177					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613201	2613201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:2613201G>A	ENST00000397461.1	+	3	398	c.14G>A	c.(13-15)tGg>tAg	p.W5*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W5*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W5*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	5					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGGTTGCCATGGGAACTGCTG	0.368000													20	53					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188718	45188718	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:45188718C>T	ENST00000279027.4	-	13	1770	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	SLC13A3_ENST00000396360.1_Silent_p.S502S|SLC13A3_ENST00000495082.1_Silent_p.S537S|SLC13A3_ENST00000472148.1_Silent_p.S502S|SLC13A3_ENST00000435032.1_Silent_p.S169S|SLC13A3_ENST00000413164.2_Silent_p.S534S|SLC13A3_ENST00000290317.5_Silent_p.S537S	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	584						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGACATTGACCGAGTACATAT	0.562000													24	139					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98453599	98453599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:98453599C>A	ENST00000186436.5	-	8	973	c.745G>T	c.(745-747)Gga>Tga	p.G249*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.G200*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	249						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGTCTCCTCCACTAGAGTAC	0.443000													21	74					2.39556e-15	2.41888e-15	1	1	0
RBM12	10137	broad.mit.edu	37	20	34242240	34242240	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:34242240C>G	ENST00000374114.3	-	3	1268	c.1005G>C	c.(1003-1005)ttG>ttC	p.L335F	RBM12_ENST00000359646.1_Missense_Mutation_p.L335F|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.L335F|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	335	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATGATCTTTCAACAAATGCA	0.393000													46	155					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166895983	166895983	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166895983G>T	ENST00000423058.2	-	14	2556	c.2539C>A	c.(2539-2541)Ctt>Att	p.L847I	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L847I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L836I|SCN1A_ENST00000409050.1_Missense_Mutation_p.L819I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	847						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	GCGAGTCCAAGTTCTACCAGG	0.348000													8	63					0.0477658	0.0477658	1	1	0
SPATA20	64847	broad.mit.edu	37	17	48627463	48627463	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:48627463A>C	ENST00000006658.6	+	8	1100	c.980A>C	c.(979-981)gAc>gCc	p.D327A	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.D267A|SPATA20_ENST00000356488.4_Missense_Mutation_p.D311A	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	311					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGCATCCGGGACCATGTGGGG	0.632000													17	199					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74394735	74394735	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:74394735G>A	ENST00000429810.2	-	0	230																											TCCAACAATCGACAGCAACCA	0.507000													5	36					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46269029	46269029	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:46269029G>A	ENST00000317578.6	-	3	2331	c.1950C>T	c.(1948-1950)ccC>ccT	p.P650P	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	650						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CCTCTGGTGGGGGCGCCGGGA	0.677000													14	72					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52668785	52668785	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:52668785G>A	ENST00000356770.4	-	10	1040	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	PBRM1_ENST00000409114.3_Silent_p.S378S|PBRM1_ENST00000409057.1_Silent_p.S378S|PBRM1_ENST00000394830.3_Silent_p.S378S|PBRM1_ENST00000337303.4_Silent_p.S378S|PBRM1_ENST00000410007.1_Silent_p.S378S|PBRM1_ENST00000296302.7_Silent_p.S378S|PBRM1_ENST00000409767.1_Silent_p.S378S			Q86U86	PB1_HUMAN	polybromo 1	378					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATCCATAAAGGAAGTGATGC	0.393000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								57	119					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956557	93956557	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:93956557C>T	ENST00000369303.4	-	15	2863	c.2679G>A	c.(2677-2679)atG>atA	p.M893I		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	893	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTTTCGAATCATTTTGTCTA	0.413000													11	94					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280068	66280068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:66280068G>A	ENST00000273854.3	-	7	2221	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.R541*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.R541*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.R377*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	541	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTACGTGCTCGAATTTGGAAG	0.433000										TSP Lung(17;0.13)			76	111					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	26997180	26997180	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:26997180C>T	ENST00000344420.5	+	2	201	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SLC35F6_ENST00000416475.2_Missense_Mutation_p.S21F|SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		CTTCCAGCATCCCTTCCTCCA	0.622000													29	81					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407149	75407149	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:75407149G>A	ENST00000297784.5	+	17	1987	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMC1_ENST00000340019.3_Missense_Mutation_p.E483K|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.E483K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	483					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TACCCTTTGGGAAGCCAATAT	0.413000													37	226					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113357440	113357440	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:113357440G>A	ENST00000445409.2	+	6	1444	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	OAS1_ENST00000202917.5_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron	NM_001032409.1	NP_001027581.1	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ttgatccagagaggacaaagc	0.502000													12	13					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374721	180374721	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:180374721C>T	ENST00000231229.4	+	4	1117	c.883C>T	c.(883-885)Cta>Tta	p.L295L	BTNL8_ENST00000508408.1_Silent_p.L295L|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	152	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTCTTCTTCTAGTCCTAGC	0.512000													52	246					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306737	179306737	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:179306737G>A	ENST00000356834.3	-	8	1344	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P436L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	436						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCTGAGGGGAGAGGCTGG	0.622000													8	64					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753599	13753599	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753599G>A	ENST00000265104.4	-	63	10719	c.10615C>T	c.(10615-10617)Cgt>Tgt	p.R3539C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3539					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAAGATCACGAAACTCTTGG	0.378000									Kartagener syndrome				24	108					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746238	15746238	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:15746238G>A	ENST00000285667.3	-	5	1183	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	HSPA13_ENST00000544452.1_Silent_p.T164T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	372						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTCATTAAGGGTATCAAAGA	0.403000													52	155					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639241	7639241	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7639241G>A	ENST00000359156.4	-	10	2514	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	CD163_ENST00000432237.2_Missense_Mutation_p.S771F|CD163_ENST00000396620.3_Missense_Mutation_p.S804F|CD163_ENST00000541972.1_Missense_Mutation_p.S759F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	771	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						AAAATGAGCAGAACCAGTGGC	0.562000													39	297					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153631	105153631	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:105153631G>A	ENST00000428173.2	+	13	2304	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NRK_ENST00000243300.9_Missense_Mutation_p.M666I			Q7Z2Y5	NRK_HUMAN	Nik related kinase	666							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAACCCTGATGGAAAATCTGT	0.433000										HNSCC(51;0.14)			3	17					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718780	42718780	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:42718780G>A	ENST00000230882.4	+	10	1361	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E369K|GHR_ENST00000537449.1_Missense_Mutation_p.E204K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	391					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGCTGTTGTGAACCTGACAT	0.473000													26	140					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93528228	93528228	+	Splice_Site	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:93528228T>A	ENST00000251871.3	+	6	1299		c.e6+2		MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						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			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTTCCGAGTAAGAGCAGCC	0.433000													17	269					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160797600	160797600	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160797600C>T	ENST00000263285.5	+	10	1992	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	LY9_ENST00000368040.1_Silent_p.F269F|LY9_ENST00000368035.1_Silent_p.F269F|LY9_ENST00000341032.4_Silent_p.F520F|LY9_ENST00000368041.2_Silent_p.F525F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	654					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGAAAATTTCACCTGAAAGG	0.493000													93	138					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219548	26219548	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:26219548G>A	ENST00000335473.7	+	13	2848	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	MYO18B_ENST00000536101.1_Silent_p.L866L|MYO18B_ENST00000407587.2_Silent_p.L866L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	866	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			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						ATGAGGAGCTGAACACGGCCA	0.567000													34	243					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915730	23915730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:23915730G>A	ENST00000330377.2	-	3	482	c.365C>T	c.(364-366)tCc>tTc	p.S122F	IGLL1_ENST00000249053.3_Silent_p.V83V	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	122	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CTCCTCAGAGGACGGCGGGAA	0.592000													14	64					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879265	144879265	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:144879265G>A	ENST00000369359.4	-	30	4631	c.4593C>T	c.(4591-4593)ccC>ccT	p.P1531P	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.P1395P|PDE4DIP_ENST00000369356.4_Silent_p.P1395P|PDE4DIP_ENST00000313382.9_Silent_p.P1351P|PDE4DIP_ENST00000530740.1_Silent_p.P1531P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1395					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			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)		TCAGCTTCCAGGGTCTTTCCA	0.537000			T	PDGFRB	MPD								93	188					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38698843	38698843	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:38698843G>C	ENST00000261438.5	+	6	1302	c.997G>C	c.(997-999)Gac>Cac	p.D333H		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	333					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CTCCCGTTCTGACCATCTTGC	0.527000													35	137					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95414916	95414916	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:95414916G>A	ENST00000287996.3	-	4	507	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	77					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTAGCTGAACGACCTCCTGTA	0.363000													22	106					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779421	31779421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:31779421C>T	ENST00000382902.1	-	10	1439	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.W442*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	442	Catalytic (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGATCCGGATCCACGTCACGT	0.572000													18	49					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:54337720C>T	ENST00000354646.2	-	3	980	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	WNK3_ENST00000375159.2_Missense_Mutation_p.R181Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R181Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378000													6	58					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2616640	2616640	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:2616640A>T	ENST00000358864.1	+	18	2390	c.2375A>T	c.(2374-2376)aAa>aTa	p.K792I		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	792						integral to membrane				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						CTGAGGAAGAAAATCCAAGTG	0.458000													10	66					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823599	35823599	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:35823599C>T	ENST00000085219.5	+	3	250	c.184C>T	c.(184-186)Cct>Tct	p.P62S	CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.P62S|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.P62S|CD22_ENST00000594250.1_Missense_Mutation_p.P62S|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.P62S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	62	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTTCCACAATCCTGAGTATAA	0.517000													16	89					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119047	43119047	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:43119047G>A	ENST00000428554.2	+	22	3217	c.2073_splice	c.e22-1	p.E692_splice	CCDC30_ENST00000342022.4_Splice_Site_p.E692_splice|CCDC30_ENST00000340612.4_Splice_Site_p.E692_splice|CCDC30_ENST00000390640.4_Splice_Site_p.E481_splice|CCDC30_ENST00000507855.1_Splice_Site_p.E481_splice			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	692										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCCTTTTAGGAAACAACAAT	0.294000													48	36					0	0	1	0	0
LOC101928663	101928663	broad.mit.edu	37	6	25261443	25261443	+	RNA	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:25261443G>C	ENST00000413898.2	-	0	196																											GGCCAGAACCGTCATCTTCCA	0.398000													6	9					0	0	1	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815992	106815992	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:106815992C>T	ENST00000390615.2	-	0	160																											CCACGCCTCCCCCAGACTCCA	0.557000													12	104					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4043500	4043500	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:4043500C>T	ENST00000294016.3	-	4	2434	c.1896G>A	c.(1894-1896)tcG>tcA	p.S632S	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	632					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCCGCACGAAGGGCAGG	0.552000													7	76					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360981	107360981	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107360981G>A	ENST00000374779.2	-	1	807	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCAGGTAGAGGAAGGTTTGC	0.413000													25	137					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964916	117964916	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:117964916C>T	ENST00000425217.1	-	13	1778	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	KSR2_ENST00000302438.5_Missense_Mutation_p.G301E|KSR2_ENST00000339824.5_Missense_Mutation_p.G604E|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	604					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGATTTCCTTCCAAGCT	0.443000													25	189					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429924	179429924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179429924G>A	ENST00000589042.1	-	326	81159	c.80935C>T	c.(80935-80937)Cca>Tca	p.P26979S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24411S|TTN_ENST00000591111.1_Missense_Mutation_p.P25338S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18039S|TTN_ENST00000460472.2_Missense_Mutation_p.P17914S|TTN_ENST00000342175.6_Missense_Mutation_p.P18106S|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25338	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCGAACTGGGCCAACTGGA	0.438000													45	99					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112761501	112761501	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:112761501G>A	ENST00000295408.4	+	13	2064	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	MERTK_ENST00000421804.2_Missense_Mutation_p.E603K|MERTK_ENST00000409780.1_Missense_Mutation_p.E427K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	603	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTCTGTAATGGAAGGAAATCT	0.473000													16	124					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766969	61766969	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:61766969C>G	ENST00000361357.3	+	12	1348	c.1030C>G	c.(1030-1032)Cgc>Ggc	p.R344G	MAP3K3_ENST00000584573.1_Missense_Mutation_p.R340G|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R344G|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R309G|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R313G	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	313					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCCTCCAGCCGCTCCCTGAG	0.597000													4	19					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954158	64954158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:64954158G>A	ENST00000394715.1	-	6	1492	c.791C>T	c.(790-792)tCc>tTc	p.S264F	ZBTB25_ENST00000261683.2_Missense_Mutation_p.S264F|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	264						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAATGGCAGGGATCCAGACAC	0.473000													24	161					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41158845	41158845	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41158845G>A	ENST00000263413.3	-	13	2163	c.1899C>T	c.(1897-1899)gtC>gtT	p.V633V	C6_ENST00000337836.5_Silent_p.V633V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	633					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGAAGATCGACCTCTTTCA	0.403000													21	49					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687762	60687762	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:60687762C>T	ENST00000335712.6	-	4	2512	c.2285G>A	c.(2284-2286)aGa>aAa	p.R762K	BCL11A_ENST00000358510.4_Missense_Mutation_p.R728K|BCL11A_ENST00000538214.1_Missense_Mutation_p.R728K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	762					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGTGTGGCTTCTCCTGTGGAC	0.557000			T	IGH@	B-CLL								43	144					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106695	55106695	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:55106695A>G	ENST00000453777.1	+	5	659	c.489A>G	c.(487-489)gaA>gaG	p.E163E	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.E163E|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGAAGATGAACACCCACAAT	0.587000													67	173					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260106	216260106	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:216260106G>A	ENST00000366943.2	-	24	5328	c.4942C>T	c.(4942-4944)Ctg>Ttg	p.L1648L	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1648L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1648	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AGCCCTCCCAGAAAGACTCCT	0.433000										HNSCC(13;0.011)			26	37					0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51555754	51555754	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:51555754G>A	ENST00000358559.2	+	2	114	c.27G>A	c.(25-27)gtG>gtA	p.V9V	MSMB_ENST00000298239.6_Silent_p.V9V|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	9						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GCAGCGTTGTGATCTTTGCCA	0.433000													11	36					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887074	27887074	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27887074C>T	ENST00000326019.6	+	1	737	c.455C>T	c.(454-456)cCc>cTc	p.P152L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	152						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GCCCGGGCTCCCCCCTACCAA	0.652000													16	93					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33799159	33799159	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:33799159C>T	ENST00000361005.5	+	5	896	c.896C>T	c.(895-897)aCc>aTc	p.T299I	PRSS3_ENST00000342836.4_Missense_Mutation_p.T256I|PRSS3_ENST00000379405.3_Missense_Mutation_p.T242I|PRSS3_ENST00000429677.3_Missense_Mutation_p.T235I|PRSS3_ENST00000495682.1_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	299	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ATTAAGGACACCATCGCTGCC	0.562000													15	131					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141528506	141528506	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141528506C>T	ENST00000389484.3	-	34	6541	c.5570G>A	c.(5569-5571)aGg>aAg	p.R1857K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1857	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATACAAGTCCTTGTAGTTTC	0.373000										TSP Lung(27;0.18)			17	119					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:16266988C>T	ENST00000343518.6	-	9	1512	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	487										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000													20	270					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958140	49958140	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:49958140C>T	ENST00000376056.2	-	5	1347	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	AKAP4_ENST00000376064.3_Silent_p.K399K|AKAP4_ENST00000358526.2_Silent_p.K408K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	408					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACAGATTTCTCTTGACAGCTG	0.453000													14	107					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893038	76893038	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76893038G>A	ENST00000409709.3	+	24	3218	c.2946G>A	c.(2944-2946)ctG>ctA	p.L982L	MYO7A_ENST00000409893.1_Silent_p.L982L|MYO7A_ENST00000458637.2_Silent_p.L982L|MYO7A_ENST00000409619.2_Silent_p.L971L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	982					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGGACCTGGATGCAGCCC	0.602000													10	138					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114483038	114483038	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:114483038G>A	ENST00000245680.2	-	12	1580	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	389					transport	integral to membrane		p.F389F(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TGGGAAACTCGAAGTCCTCAA	0.358000													29	58					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889486	147889486	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:147889486G>A	ENST00000360693.3	-	6	747	c.609C>T	c.(607-609)atC>atT	p.I203I	HTR4_ENST00000354217.2_Silent_p.I203I|HTR4_ENST00000517929.1_Silent_p.I203I|HTR4_ENST00000521735.1_Silent_p.I203I|HTR4_ENST00000520514.1_Silent_p.I203I|HTR4_ENST00000314512.6_Silent_p.I203I|HTR4_ENST00000362016.2_Silent_p.I217I|HTR4_ENST00000521530.1_Silent_p.I203I|HTR4_ENST00000377888.3_Silent_p.I203I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	203					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGAGAAATGGGATGTAGAAGG	0.507000													10	37					0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645558	50645558	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:50645558G>A	ENST00000443053.2	-	4	535	c.308C>T	c.(307-309)tCc>tTc	p.S103F	CISH_ENST00000348721.3_Missense_Mutation_p.S86F	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	86	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCGTAATGGAACCCCAATA	0.567000													15	48					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783203	140783203	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140783203C>T	ENST00000573521.1	+	1	684	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCGCATCCATGTGACAG	0.607000													10	60					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203807618	203807618	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:203807618C>T	ENST00000320443.8	+	4	1277	c.234C>T	c.(232-234)ttC>ttT	p.F78F	WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Silent_p.F66F|CARF_ENST00000444724.1_Silent_p.F78F|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000438828.2_Silent_p.F78F|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000402905.2_Silent_p.F78F					calcium responsive transcription factor																		CAGAGCAATTCCATCTAGTGG	0.413000													25	127					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71671826	71671826	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:71671826C>T	ENST00000361756.3	+	3	493	c.132C>T	c.(130-132)caC>caT	p.H44H	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Silent_p.H12H|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Silent_p.H12H|RNF121_ENST00000393713.3_Silent_p.H12H	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	44						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						ATGCCAAGCACCGTGGCCATG	0.562000													10	116					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604090	95604090	+	Missense_Mutation	SNP	G	G	A	rs149396482		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:95604090G>A	ENST00000343958.4	-	2	1193	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	FGD6_ENST00000549499.1_Missense_Mutation_p.R324C|FGD6_ENST00000546711.1_Missense_Mutation_p.R324C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	324					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R324C(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CGTAACAGACGAGCAGTTCGT	0.413000													46	154					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908863	123908863	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123908863G>A	ENST00000330487.5	-	1	854	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CAACAGGGTTGAAAAGAGGAG	0.488000													10	101					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131214	66131214	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:66131214C>T	ENST00000590019.1	-	0	298																											AGCTCCTCTTCGGGGATCTTG	0.577000													3	17					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387354	70387354	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70387354C>T	ENST00000374051.3	+	6	1669	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.T429T|NLGN3_ENST00000358741.3_Silent_p.T469T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	469					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCCTGAGACCCGCCGTAAAA	0.562000													20	46					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102335094	102335094	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:102335094C>T	ENST00000425644.1	-	11	1048	c.50G>A	c.(49-51)aGa>aAa	p.R17K	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000395065.3_Silent_p.K326K			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	0						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGGTAACCTCTTGTGGGCTT	0.547000													132	243					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60073552	60073552	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:60073552T>A	ENST00000371218.4	+	9	1165	c.981T>A	c.(979-981)aaT>aaA	p.N327K	FGGY_ENST00000371212.1_Missense_Mutation_p.N239K|FGGY_ENST00000371210.1_Missense_Mutation_p.N28K|FGGY_ENST00000303721.7_Missense_Mutation_p.N327K|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	327					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCTGGCTGAATGAAGGTGGTC	0.423000													32	45					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120853	38120853	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:38120853G>A	ENST00000395867.3	-	6	1980	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S477L|ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S477*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AGTGAGGGCTGATCTGTGGCA	0.438000													27	111					0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31678170	31678170	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31678170G>A	ENST00000375832.4	+	5	866	c.844G>A	c.(844-846)Gag>Aag	p.E282K	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	282						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCAGGTCTATGAGAACATCCA	0.527000													58	378					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129817091	129817091	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:129817091G>A	ENST00000358825.5	-	5	700	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	PRDM10_ENST00000360871.3_Silent_p.L157L|PRDM10_ENST00000526082.1_Silent_p.L71L|PRDM10_ENST00000423662.2_Silent_p.L71L|PRDM10_ENST00000528746.1_Silent_p.L131L|PRDM10_ENST00000304538.6_Silent_p.L71L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGTCATCCAGATCCGTGTCC	0.597000													65	45					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706738	189706738	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:189706738G>A	ENST00000319332.5	-	4	1110	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	LEPREL1_ENST00000427335.2_Missense_Mutation_p.L124F	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	305					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCAGAGGAAGAAAATTCTCG	0.493000													46	138					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357204	149357204	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:149357204G>A	ENST00000355292.3	-	2	1171	c.809C>T	c.(808-810)tCc>tTc	p.S270F	NR3C2_ENST00000358102.3_Missense_Mutation_p.S270F|NR3C2_ENST00000511528.1_Missense_Mutation_p.S270F|NR3C2_ENST00000512865.1_Missense_Mutation_p.S270F|NR3C2_ENST00000344721.4_Missense_Mutation_p.S270F|NR3C2_ENST00000342437.4_Missense_Mutation_p.S270F			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	270	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAAATTGAGGATTTCATGCT	0.488000													18	107					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359691	16359691	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:16359691C>T	ENST00000375692.1	+	20	2081	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	CLCNKA_ENST00000420078.1_Silent_p.N651N|CLCNKA_ENST00000439316.2_Silent_p.N609N|CLCNKA_ENST00000331433.4_Silent_p.N652N|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	652	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGCTGTTGAACCTTCAGTCCC	0.617000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	141					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889509	30889509	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:30889509C>T	ENST00000475541.1	-	1	1722	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	PURG_ENST00000339382.2_Missense_Mutation_p.G264R	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	264						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAAGAAGTCCCCTCTGGGAGT	0.458000													20	79					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427309	49427309	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:49427309G>C	ENST00000301067.7	-	39	11178	c.11179C>G	c.(11179-11181)Cgt>Ggt	p.R3727G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTGCATACGTTGCTGCTGC	0.587000													7	46					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138824642	138824642	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:138824642G>A	ENST00000464848.1	+	4	321	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.E81K|TTC26_ENST00000474035.2_Missense_Mutation_p.E81K|TTC26_ENST00000343187.4_Missense_Mutation_p.E50K|TTC26_ENST00000478836.2_Missense_Mutation_p.E81K|TTC26_ENST00000430935.1_Missense_Mutation_p.E81K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	81							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCAGGAATACGAAAATGCTAC	0.383000													7	72					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953166	70953166	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:70953166G>A	ENST00000334414.6	-	18	4715	c.4671C>T	c.(4669-4671)tcC>tcT	p.S1557S	PTPRB_ENST00000451516.2_Silent_p.S1249S|PTPRB_ENST00000551525.1_Silent_p.S1556S|PTPRB_ENST00000550857.1_Silent_p.S1249S|PTPRB_ENST00000261266.5_Silent_p.S1339S|PTPRB_ENST00000538708.1_Silent_p.S1249S|PTPRB_ENST00000550358.1_Silent_p.S1469S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1339					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)			AAGTTTTCCAGGAATCACCAC	0.403000													77	205					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265555	22265555	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22265555C>T	ENST00000390430.2	+	0	97																											AGGAGAATTTCCAAAGAGACG	0.502000													5	10					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105205679	105205679	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:105205679G>A	ENST00000332972.5	+	4	661	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ADSSL1_ENST00000330877.2_Missense_Mutation_p.E125K	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	125					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GAAGGACTGGGAGAAGAGGCT	0.642000													4	12					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40948140	40948140	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:40948140G>A	ENST00000246914.5	+	17	3452		c.e17-1			NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4						intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCATCCTCAGGCACTTGTCA	0.547000													14	95					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35827577	35827577	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:35827577G>A	ENST00000394395.2	+	12	1016	c.843G>A	c.(841-843)agG>agA	p.R281R	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.R281R	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	281					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AACTCCGAAGGGAAATCAAGA	0.383000													13	34					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43655067	43655067	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:43655067C>T	ENST00000378069.4	-	7	834	c.687G>A	c.(685-687)gtG>gtA	p.V229V	MAOB_ENST00000538942.1_Silent_p.V213V|MAOB_ENST00000536181.1_Silent_p.V213V	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	229					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCTCCAGCTTCACTCGGTCTC	0.468000													48	89					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127686	117127686	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:117127686C>T	ENST00000310357.3	-	3	1203	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.R394R	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	394					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACGAAGTTCCTTTCTATAG	0.443000													12	84					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881389	94881389	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:94881389C>T	ENST00000289495.5	+	10	2762	c.2546C>T	c.(2545-2547)aCc>aTc	p.T849I	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T871I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T849I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T849I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T849I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T849I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	849	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGGGGATACCATGGAGAAC	0.393000										HNSCC(28;0.073)			13	117					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244582	1244582	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:1244582C>T	ENST00000581398.1	+	0	536				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						GGAGAGACTTCTGGGGAGGAA	0.567000													16	55					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384852	128384852	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128384852C>T	ENST00000389524.4	+	32	4402	c.4349C>T	c.(4348-4350)tCt>tTt	p.S1450F	MYO7B_ENST00000409816.2_Missense_Mutation_p.S1450F|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1450F|MYO7B_ENST00000409090.1_Missense_Mutation_p.S303F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1450	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		CTGGAACTCTCTTTCCCAGAG	0.597000													9	25					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165673	172165673	+	Silent	SNP	G	G	A	rs4988509	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:172165673G>A	ENST00000241256.2	-	1	573	c.531C>T	c.(529-531)ccC>ccT	p.P177P	GHSR_ENST00000427970.1_Silent_p.P177P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	177					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCACGAAGATGGGCCCGGCGC	0.657000													31	53					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241983	87241983	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:87241983G>A	ENST00000297524.3	-	1	627	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC7A13_ENST00000419776.2_Missense_Mutation_p.S175F|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	175						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAGTTAGGGAAATGAAGCT	0.408000													37	129					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189579	62189579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:62189579G>A	ENST00000474889.1	+	12	2487	c.2110G>A	c.(2110-2112)Ggg>Agg	p.G704R	PTPRG_ENST00000295874.10_Missense_Mutation_p.G704R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	704					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATGTCCCGCGGGGACCGATT	0.542000													25	105					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796027	147796027	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:147796027C>T	ENST00000513335.1	-	8	917	c.718G>A	c.(718-720)Ggg>Agg	p.G240R	TTC29_ENST00000325106.4_Missense_Mutation_p.G214R|TTC29_ENST00000398886.4_Missense_Mutation_p.G240R			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	214							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATATCCGCCCCTGTGTCAAT	0.458000													7	54					0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053969	120053969	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:120053969G>A	ENST00000295628.3	-	3	742	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	216										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		AAGACTTAGGGAACGAAGTGA	0.343000													17	61					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31147108	31147108	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:31147108G>A	ENST00000349752.5	-	13	1896	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	GALNT14_ENST00000406653.1_Silent_p.I399I|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Silent_p.I384I|GALNT14_ENST00000356174.3_Silent_p.I386I|GALNT14_ENST00000324589.5_Silent_p.I424I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	419	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I419I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTTCTGGATGGAGGACT	0.537000													42	129					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248555	94248555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:94248555G>A	ENST00000515393.1	-	9	1476	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	MCTP1_ENST00000505208.1_Missense_Mutation_p.P272S|MCTP1_ENST00000312216.8_Missense_Mutation_p.P272S|MCTP1_ENST00000505078.1_Missense_Mutation_p.P9S|MCTP1_ENST00000429576.2_Missense_Mutation_p.P226S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	493	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCACGTAGGGATCGCTCAAC	0.463000													26	122					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372180	126372180	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126372180A>C	ENST00000394329.3	+	9	10022	c.10009A>C	c.(10009-10011)Att>Ctt	p.I3337L	FAT4_ENST00000335110.5_Missense_Mutation_p.I1635L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3337	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						ACACTATTTGATTTTTGGTAA	0.398000													80	121					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237690	126237690	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126237690G>A	ENST00000394329.3	+	1	137	c.124G>A	c.(124-126)Ggg>Agg	p.G42R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	42					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						CTGGGTCCACGGGGCCGAGCC	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	133					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231587	230231587	+	Splice_Site	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:230231587A>G	ENST00000341772.4	-	12	2237		c.e12+1			NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing						central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCCACAGCCAACCTGGCATGC	0.527000													26	90					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36293156	36293156	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36293156G>A	ENST00000301175.3	-	10	1380	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	455					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCATCCAGAGGAATGCCC	0.542000													21	127					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383009	31383009	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:31383009C>T	ENST00000268296.4	+	17	2185	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	ITGAX_ENST00000562522.1_Silent_p.P688P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	688					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCTGAGTCCCCGTGCCACCT	0.617000													9	69					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305142	44305142	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:44305142C>T	ENST00000264664.4	-	3	696	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	194					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGTGTTTTTCCTTCGTGTTT	0.438000													30	171					0	0	1	0	0
FAM210B	116151	broad.mit.edu	37	20	54940142	54940142	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:54940142G>A	ENST00000371384.3	+	2	277		c.e2-1			NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN	family with sequence similarity 210, member B							integral to membrane											TTTGTACACAGGACCCCAGCC	0.498000													16	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505789	228505789	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228505789C>T	ENST00000570156.2	+	64	16991	c.16917C>T	c.(16915-16917)atC>atT	p.I5639I	OBSCN_ENST00000366707.4_Silent_p.I2316I|OBSCN_ENST00000422127.1_Silent_p.I4682I|OBSCN_ENST00000366709.4_Silent_p.I1801I|OBSCN_ENST00000284548.11_Silent_p.I4682I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4682	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGTGATCAAGGGCTTCA	0.642000													45	44					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246510	216246510	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:216246510C>T	ENST00000366943.2	-	28	6091	c.5705G>A	c.(5704-5706)gGa>gAa	p.G1902E	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1902E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1902	Fibronectin type-III 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			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)		GGAGTCATTTCCCCTGCAGTT	0.488000										HNSCC(13;0.011)			34	38					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350260	76350260	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76350260G>A	ENST00000476707.1	+	1	184	c.45G>A	c.(43-45)acG>acA	p.T15T	CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000478060.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGATTCCACGAAAGCCTCAG	0.428000													3	16					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1266825	1266825	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1266825G>A	ENST00000339381.5	+	1	132	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	34					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GATGAAGGGGGACTACGTGCT	0.692000													11	33					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55035750	55035750	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:55035750C>T	ENST00000330807.5	-	11	1764	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	ALAS2_ENST00000335854.4_Missense_Mutation_p.V506M|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.V530M	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	543					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGCAGCCCCACCGCAGTCCAA	0.542000													6	10					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640843	76640843	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:76640843G>A	ENST00000369950.3	-	15	2259	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	690					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CGCAGGCCAGGAACTTGCAGG	0.512000													4	30					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31827643	31827643	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31827643G>A	ENST00000375631.4	-	6	1230	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	367						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	AATAGCCACTGGGGCCTGGCC	0.592000													48	109					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31919251	31919251	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31919251G>A	ENST00000456570.1	+	28	3650		c.e28+1		CFB_ENST00000477310.1_Splice_Site|CFB_ENST00000556679.1_Splice_Site|CFB_ENST00000425368.2_Splice_Site			P00751	CFAB_HUMAN	complement factor B						complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTTGCAGAGGTGAGAGAATG	0.532000													64	223					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945676	7945676	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7945676G>A	ENST00000229307.4	+	2	501	c.282G>A	c.(280-282)aaG>aaA	p.K94K	NANOG_ENST00000526286.1_Silent_p.K94K	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	94					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCCGGTCAAGAAACAGAAGA	0.473000													38	61					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130095498G>A	ENST00000265379.6	+	3	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_ENST00000432398.2_Silent_p.V162V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000													9	34					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48744926	48744926	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:48744926G>A	ENST00000285238.8	+	12	1523	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	ABCC3_ENST00000427699.1_Missense_Mutation_p.M481I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	481	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TAAAGCAAATGAAATTGAAGG	0.552000													14	50					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410923	130410923	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:130410923G>A	ENST00000370904.1	-	20	3481	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	IGSF1_ENST00000370903.3_Silent_p.L871L|IGSF1_ENST00000370910.1_Silent_p.L857L|IGSF1_ENST00000361420.3_Silent_p.L866L|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	866	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGTCACCACGAGCTCCACAG	0.527000													61	186					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102201934	102201934	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:102201934C>T	ENST00000335968.3	-	16	2269	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	685					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATAGTTTTCTGAAAGAATG	0.294000													11	66					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630155	35630155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:35630155G>A	ENST00000400445.3	+	7	1515	c.981G>A	c.(979-981)atG>atA	p.M327I	NBEA_ENST00000379939.2_Missense_Mutation_p.M327I|NBEA_ENST00000310336.4_Missense_Mutation_p.M327I|NBEA_ENST00000540320.1_Missense_Mutation_p.M327I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	327						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		aGTGGTACATGATCAGCATTG	0.313000													14	53					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768261	123768261	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:123768261A>T	ENST00000223642.1	-	20	2527	c.2498T>A	c.(2497-2499)gTt>gAt	p.V833D	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	833					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			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)	TCCTCGTACAACAGAATATGG	0.388000													26	54					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573152	57573152	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57573152C>T	ENST00000243077.3	+	29	5245	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1593					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGATGGAGATCCGAGGTGTGG	0.567000													11	44					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48649519	48649519	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:48649519G>A	ENST00000376670.3	+	2	114	c.3G>A	c.(1-3)atG>atA	p.M1I	GATA1_ENST00000376665.3_Start_Codon_SNP_p.M1I	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	1					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(8)|p.M1I(6)|p.M1N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GAGGCTCCATGGAGTTCCCTG	0.587000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								8	13					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55563223C>T	ENST00000335605.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000													34	76					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825495	4825495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4825495G>A	ENST00000380382.1	-	1	352	c.353C>T	c.(352-354)gCt>gTt	p.A118V	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A39V|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACAGCCACAGCATACGTGGC	0.512000													10	49					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559889	41559889	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:41559889G>A	ENST00000400454.1	-	13	3056	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	860	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAGAAACCAGAATCTTCTCT	0.403000													12	63					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32463992	32463992	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:32463992C>T	ENST00000266088.4	+	4	601	c.351C>T	c.(349-351)gtC>gtT	p.V117V	SLC5A1_ENST00000543737.1_5'UTR	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	117					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGCTGTTTGTCCCCATCTATA	0.488000													66	192					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815720	152815720	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:152815720G>A	ENST00000370186.1	+	10	2083	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	ATP2B3_ENST00000349466.2_Missense_Mutation_p.G600E|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G600E|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G586E|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G600E|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G586E			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	600					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCAAGGGGGCCTCAGAG	0.547000													44	68					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30516869	30516869	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:30516869C>T	ENST00000448418.2	-	4	870	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MPPED2_ENST00000358117.5_Silent_p.K170K	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	170					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TCCTGAATCCCTTCACTGTTA	0.408000													16	69					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337129	57337129	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:57337129C>T	ENST00000374900.4	+	3	499	c.379C>T	c.(379-381)Cct>Tct	p.P127S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	127						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CCTTGGGGTTCCTTTGACAGT	0.408000										HNSCC(52;0.14)			24	54					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039545	153039545	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153039545G>A	ENST00000538966.1	+	21	3851	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1171N|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D781N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D824N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1171	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTCCTGGATGTGGAGGT	0.711000													6	27					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	G	A	rs138372925		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:126781188G>A	ENST00000274473.6	+	21	2798	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438000													16	95					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482601	39482601	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:39482601C>T	ENST00000513652.1	+	0	608																											TCACTCCGATCCAGTCTCGGC	0.488000													12	49					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193096512	193096512	+	Translation_Start_Site	SNP	C	C	T	rs143752942	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:193096512C>T	ENST00000342358.4	-	1	120	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTTCTCTTCCATCTGAACTC	0.463000													40	151					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007900	6007900	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:6007900G>A	ENST00000332249.4	-	1	315	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACCAGGTCGATGGCAGCTA	0.522000													10	24					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956020	66956020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:66956020G>A	ENST00000299759.6	-	5	1136	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	RRAD_ENST00000420652.1_Missense_Mutation_p.R296C			P55042	RAD_HUMAN	Ras-related associated with diabetes	296	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GATTTGGCGCGAAAGGCCATC	0.627000													10	41					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046614	94046614	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:94046614G>A	ENST00000553484.1	+	19	2707	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	UNC79_ENST00000393151.2_Silent_p.K851K|UNC79_ENST00000256339.4_Silent_p.K674K|UNC79_ENST00000555664.1_Silent_p.K851K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	851						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTGCCAGAAGGACGAAAAAG	0.458000													33	80					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4700407	4700407	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4700407G>A	ENST00000540757.2	+	3	221	c.61G>A	c.(61-63)Gat>Aat	p.D21N	DYRK4_ENST00000543431.1_Missense_Mutation_p.D21N|DYRK4_ENST00000010132.5_Missense_Mutation_p.D21N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	21						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TAAAACCCAGGATCCCAAGGC	0.517000													10	63					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298170	167298170	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:167298170G>A	ENST00000409855.1	-	14	2019	c.1893C>T	c.(1891-1893)gtC>gtT	p.V631V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	631					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAACAACAGGACCAAGTCTT	0.393000													26	74					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110497534	110497534	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:110497534G>A	ENST00000324068.1	-	3	430	c.263C>T	c.(262-264)tCc>tTc	p.S88F	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	88	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGCCAAACAGGAAAATGCAGA	0.463000													47	123					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775435	128775435	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128775435G>A	ENST00000357702.5	-	3	376	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SAP130_ENST00000259234.6_Missense_Mutation_p.S56F|SAP130_ENST00000259235.3_Missense_Mutation_p.S82F	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	82	Poly-Ser.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAGCTGCTGGAACTCATGTG	0.512000													33	84					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72502751	72502751	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:72502751G>A	ENST00000319622.6	-	4	771	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKM_ENST00000449901.2_Silent_p.Y90Y|PKM_ENST00000389093.3_Silent_p.Y105Y|PKM_ENST00000335181.5_Silent_p.Y105Y|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Silent_p.Y105Y|PKM_ENST00000565154.1_Silent_p.Y105Y|PKM_ENST00000565184.1_Silent_p.Y105Y	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CAACGGGCCGGTAGAGGATGG	0.557000													38	107					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124908153	124908153	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:124908153C>T	ENST00000339992.3	+	1	516	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	87					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CATCCCTTTTCCTTGCCTGGG	0.716000													10	37					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680245	95680245	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:95680245C>T	ENST00000433389.2	+	10	1190	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	ESRP1_ENST00000423620.2_Missense_Mutation_p.P334S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P334S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P334S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	334	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCGGGGGCTCCCTTTCACGGC	0.507000													11	78					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269396	150269396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150269396G>A	ENST00000255945.2	+	3	413	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GIMAP4_ENST00000461940.1_Missense_Mutation_p.E94K|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	80							GTP binding	p.E80*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGGAAACAGAACTTGTCGT	0.488000													14	95					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760000	115760000	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:115760000G>A	ENST00000427548.1	-	0	1813							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGATTTTTCCT	0.398000													8	84					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583260	148583260	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:148583260G>A	ENST00000296046.3	+	2	121	c.68_splice	c.e2-1	p.R23_splice	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	23					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTCCACAAAGGGAGAAGGTGT	0.398000													41	67					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357450	114357450	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:114357450G>A	ENST00000317135.8	-	19	2003	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	LRCH2_ENST00000538422.1_Missense_Mutation_p.S641F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	658	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTTAACCTGGATTCAAGATT	0.328000													5	35					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095241	130095241	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130095241G>A	ENST00000265379.6	+	3	723	c.229G>A	c.(229-231)Gag>Aag	p.E77K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E77K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	77	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTACAGCGACGAGTTTCACAG	0.483000													18	41					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012422	140012422	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140012422G>A	ENST00000302014.6	-	2	776	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CD14_ENST00000401743.2_Silent_p.F49F	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	49					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACACTGGAAGGCTTCGG	0.597000													10	57					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764226	113764226	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:113764226G>A	ENST00000259211.6	+	3	587	c.176G>A	c.(175-177)aGa>aAa	p.R59K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	59					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAGAAAGACAGAGGGAACCCC	0.527000													96	292					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23722059	23722059	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:23722059G>A	ENST00000379303.5	-	16	1427	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	ACOT9_ENST00000336430.7_Silent_p.S424S|ACOT9_ENST00000379295.1_Silent_p.S364S	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	424					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GGCCACTCATGGAGTTGAAAT	0.453000													19	54					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146513	70146513	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:70146513G>A	ENST00000335568.5	+	1	297	c.295G>A	c.(295-297)Gac>Aac	p.D99N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D99N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	99					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAGATGGTCAGACATTCAAAA	0.323000													23	160					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417713	70417713	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:70417713C>T	ENST00000327305.6	-	9	1782	c.1125G>A	c.(1123-1125)agG>agA	p.R375R	NETO1_ENST00000299430.2_Silent_p.R374R|NETO1_ENST00000583169.1_Silent_p.R375R	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	375					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGTCTGATTTCCTTTGGACAT	0.453000													25	87					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102284087	102284087	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:102284087C>T	ENST00000438793.3	+	8	1051	c.581C>T	c.(580-582)cCt>cTt	p.P194L	PAM_ENST00000274392.9_Missense_Mutation_p.P97L|PAM_ENST00000455264.2_Missense_Mutation_p.P194L|PAM_ENST00000304400.7_Missense_Mutation_p.P194L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Missense_Mutation_p.P194L|PAM_ENST00000346918.2_Missense_Mutation_p.P194L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	194	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGCAGACAGCCTTTAATTGCT	0.313000													16	64					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174649	207174649	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:207174649G>A	ENST00000374423.3	+	5	5783	c.5397G>A	c.(5395-5397)agG>agA	p.R1799R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1799							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCTGTAAGGAACCTGAAAA	0.408000													18	47					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286079	48286079	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:48286079C>T	ENST00000320048.1	+	1	667	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCTGCACTTCCTGAGAAGCCA	0.527000													12	89					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44573541	44573541	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:44573541C>T	ENST00000372409.3	+	11	1404	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	347						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGTGTGGCCCCCACGTCTCG	0.607000													4	47					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929400	121929400	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:121929400G>A	ENST00000265922.3	-	8	2709	c.2248C>T	c.(2248-2250)Ctc>Ttc	p.L750F	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		750					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTGTTTGAGGATCTCCGTG	0.502000													75	146					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41906287	41906287	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:41906287G>A	ENST00000396930.3	-	3	752	c.209C>T	c.(208-210)tCc>tTc	p.S70F	KAT6A_ENST00000485568.1_Missense_Mutation_p.S70F|KAT6A_ENST00000406337.1_Missense_Mutation_p.S70F|KAT6A_ENST00000265713.2_Missense_Mutation_p.S70F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	70	Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ATCTTTATAGGAATTGAGTCC	0.353000													52	178					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818734	159818734	+	RNA	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:159818734G>A	ENST00000497452.1	-	0	517																											AGGAGGGAACGAAGTCACCGA	0.507000													52	169					0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53455434	53455434	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:53455434G>A	ENST00000457095.1	+	5	607	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.G135S	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	135										lung(2)	2						TACCTATCCTGGTCCAGCCAG	0.522000													5	26					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10367885	10367885	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10367885C>T	ENST00000255381.2	-	7	662	c.552G>A	c.(550-552)ggG>ggA	p.G184G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	184	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCACAGTCTTCCCTGCACCAG	0.428000													21	63					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912223	145912223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:145912223C>T	ENST00000354952.2	-	9	1205	c.965G>A	c.(964-966)aGa>aAa	p.R322K	PLSCR4_ENST00000493382.1_Missense_Mutation_p.R322K|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R232K|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R217K|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R322K	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	322					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGGTGGAGATCTTTCAAAATA	0.328000													37	62					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072035	120072035	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:120072035G>A	ENST00000307128.5	+	3	298	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	29							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGATGTTGATGGCATGGACCT	0.373000													60	90					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030179	40030179	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:40030179C>T	ENST00000372857.3	-	10	2161	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	PABPC4_ENST00000372856.3_Missense_Mutation_p.G457R|PABPC4_ENST00000372858.3_Missense_Mutation_p.G457R|PABPC4_ENST00000372862.3_Missense_Mutation_p.G457R	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	457					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACGAGGCCCAGACTGGCGT	0.542000													115	64					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414358	41414358	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:41414358G>A	ENST00000400454.1	-	32	6103	c.5626C>T	c.(5626-5628)Ccc>Tcc	p.P1876S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1876					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGGTTTGGGGGGAGATGCA	0.567000													11	114					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88522583	88522583	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:88522583C>T	ENST00000317501.3	-	15	1993	c.1832G>A	c.(1831-1833)gGc>gAc	p.G611D	NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.G611D|NTRK3_ENST00000542733.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTTAAAAGCCATGACGTCC	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			44	119					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43585437	43585437	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:43585437C>T	ENST00000409746.5	-	6	486	c.415G>A	c.(415-417)Gat>Aat	p.D139N	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.D139N|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	139						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGACTCACATCCATGGTTTTC	0.313000													3	8					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528364	149528364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:149528364C>T	ENST00000258484.6	+	9	1268	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	412					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTGCAGCCTCGTTTGGACCA	0.358000													24	40					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542483	12542483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:12542483G>A	ENST00000301547.5	-	4	700	c.503C>T	c.(502-504)cCa>cTa	p.P168L	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	168					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACAATCATATGGTTTCTTTCC	0.428000													27	157					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145628356	145628356	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:145628356C>T	ENST00000296575.3	+	6	1756	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	367						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTGTACATCATTCTTGGTG	0.433000													15	101					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98453600	98453600	+	Silent	SNP	A	A	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:98453600A>G	ENST00000186436.5	-	8	972	c.744T>C	c.(742-744)agT>agC	p.S248S	TMEM131_ENST00000425805.2_Silent_p.S199S	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	248						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTCTCCTCCACTAGAGTACA	0.443000													21	72					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255165	155255165	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:155255165A>T	ENST00000297375.4	+	2	1034	c.785A>T	c.(784-786)gAg>gTg	p.E262V		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAAGGCCGAGTTCCAGACC	0.592000													18	190					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391277	125391277	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125391277G>A	ENST00000304833.3	-	1	575	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AAGTGAGGAAGGTTAACGTTG	0.527000													11	37					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14958785	14958785	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:14958785C>T	ENST00000285046.5	+	12	3545	c.3435C>T	c.(3433-3435)ccC>ccT	p.P1145P	FGD5_ENST00000543601.1_Silent_p.P904P|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1145	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACACCTATCCCCAGAAGGATG	0.567000													4	33					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108332	168108332	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:168108332G>A	ENST00000409195.1	+	9	10519	c.10430G>A	c.(10429-10431)aGa>aAa	p.R3477K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3477K|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3255K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3302					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						AAAGAAGTAAGAAAAAATTTT	0.433000													15	102					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6820506	6820506	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:6820506C>T	ENST00000403107.1	+	13	1983	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	RSPH10B2_ENST00000433859.2_Silent_p.A532A|RSPH10B2_ENST00000297186.3_Silent_p.A532A|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000404077.1_Silent_p.A532A					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GTCCAAATGCCTGCCAGATAA	0.393000													9	175					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983038	57983038	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57983038C>T	ENST00000309433.6	+	1	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTACTTTTTCCCCTCCTCCA	0.473000													18	109					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206994	48206994	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:48206994C>T	ENST00000298396.2	-	7	564	c.512G>A	c.(511-513)aGa>aAa	p.R171K	SSX3_ENST00000376895.1_Missense_Mutation_p.R83K	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CAGCTGCTTTCTCTCACGCAG	0.507000													164	383					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94259666	94259666	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:94259666C>T	ENST00000515393.1	-	7	1272		c.e7+1		MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTAGACATTACCCTCCAAAAG	0.303000													4	30					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109535458	109535458	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:109535458C>T	ENST00000356711.2	+	13	1537	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S	MYO16_ENST00000251041.5_Missense_Mutation_p.P471S|MYO16_ENST00000357550.2_Missense_Mutation_p.P471S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	471	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGCTGCCTCCTCACCTCTT	0.562000													36	248					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44198084	44198084	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:44198084G>A	ENST00000417257.1	-	6	669	c.493C>T	c.(493-495)Cct>Tct	p.P165S	FRMD5_ENST00000402883.1_Missense_Mutation_p.P165S|FRMD5_ENST00000484674.1_Missense_Mutation_p.P76S	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	165	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GAATGTTTAGGGAAAAACTGG	0.458000													16	117					0	0	1	0	0
PPBP	5473	broad.mit.edu	37	4	74853792	74853792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:74853792G>A	ENST00000296028.3	-	1	122	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	10					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACTGTTACAGGAAGGGGTGGT	0.522000													8	116					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110845216	110845216	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:110845216G>A	ENST00000375820.4	-	23	1547	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	COL4A1_ENST00000543140.1_Missense_Mutation_p.R476W	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	476	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R476R(1)|p.R470W(1)|p.R476W(1)|p.R470R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAGGCCCCCGATATCCGTCT	0.498000													32	98					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450041	158450041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:158450041G>A	ENST00000355585.4	+	3	543	c.468G>A	c.(466-468)tgG>tgA	p.W156*	SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.W156*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.W156*|SYNJ2_ENST00000449859.2_Nonsense_Mutation_p.W105*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	156	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTCTGAATGGGGGAACTCCT	0.617000													27	67					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:140995253C>T	ENST00000285879.4	+	4	2349	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	688							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)			56	113					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50882378	50882378	+	Missense_Mutation	SNP	C	C	T	rs150413435		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50882378C>T	ENST00000359139.3	+	22	2979	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	PPP6R2_ENST00000216061.5_Missense_Mutation_p.P895L|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P862L|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P861L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	895						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGCTGTGCCCCCCGAGGCT	0.667000													6	10					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921627	213921627	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:213921627C>T	ENST00000457361.1	-	4	504	c.336G>A	c.(334-336)ctG>ctA	p.L112L	IKZF2_ENST00000413091.3_Silent_p.L112L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000434687.1_Silent_p.L112L|IKZF2_ENST00000342002.2_Silent_p.L118L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTCACATTTCAGTTTACCAT	0.493000													28	85					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183030	102183030	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:102183030G>A	ENST00000306176.1	+	7	844	c.744G>A	c.(742-744)atG>atA	p.M248I	ZPLD1_ENST00000491959.1_Missense_Mutation_p.M232I|ZPLD1_ENST00000466937.1_Missense_Mutation_p.M232I	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	232	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGTTTTAATGGATTATTGCT	0.318000													18	75					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6549450	6549450	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:6549450C>T	ENST00000263125.5	-	4	426	c.327G>A	c.(325-327)ctG>ctA	p.L109L	PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Silent_p.L109L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	109	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTGAGGTTTCAGCTCTAACT	0.468000													94	171					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49321428	49321428	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49321428G>A	ENST00000351842.4	-	18	2399	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	USP4_ENST00000265560.4_Silent_p.F844F	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	844					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACCTGATTGGGAATTCTACGA	0.458000													19	166					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891977	18891977	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:18891977G>A	ENST00000317658.3	+	1	933	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	259					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.D259Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTACGAAGGGATCTTCCAGT	0.413000													45	65					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764175	133764175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133764175G>A	ENST00000356838.3	-	4	312	c.170C>T	c.(169-171)tCc>tTc	p.S57F	TMEM71_ENST00000523829.1_Missense_Mutation_p.S57F|TMEM71_ENST00000377901.4_Missense_Mutation_p.S57F|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTATAGTGGGAGCCTGTCAG	0.463000													21	79					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215319	118215319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:118215319C>T	ENST00000402510.2	-	14	5102	c.5103G>A	c.(5101-5103)tgG>tgA	p.W1701*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1701										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCATGTGGCTCCATGCTTTGG	0.413000													31	207					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228650	25228650	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:25228650C>T	ENST00000219660.5	+	2	269	c.144C>T	c.(142-144)ttC>ttT	p.F48F	AQP8_ENST00000566125.1_Silent_p.F42F	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	48					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTGCTCTCTTCATCTTCATCG	0.632000													54	239					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797305	48797305	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:48797305C>T	ENST00000316623.5	-	16	2332	c.1877G>A	c.(1876-1878)gGg>gAg	p.G626E		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	626	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACGCAACGCCCATTCATGCA	0.448000													36	121					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104230	26104230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:26104230C>T	ENST00000377803.2	+	1	127	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	19					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TGCTAAGCGCCATCGTAAGGT	0.532000													15	105					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163476	47163476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:47163476G>A	ENST00000409792.3	-	3	2692	c.2650C>T	c.(2650-2652)Cag>Tag	p.Q884*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGAAGACTCTGAAGAGATGAA	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								32	125					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471862	56471862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:56471862G>A	ENST00000370754.5	-	39	7464	c.7465C>T	c.(7465-7467)Cac>Tac	p.H2489Y	DST_ENST00000312431.6_Missense_Mutation_p.H2311Y|DST_ENST00000370769.4_Missense_Mutation_p.H2311Y|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.H1985Y|DST_ENST00000361203.3_Missense_Mutation_p.H2311Y|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2311					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATCATTGTGATATTGTACT	0.358000													29	46					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489461	20489461	+	RNA	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:20489461C>T	ENST00000555186.1	+	0	449					NR_038836.1																						AACACAACTTCATTCCTAAAG	0.428000													11	223					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169325	138169325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:138169325C>T	ENST00000409968.1	+	14	3020	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R917*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R948*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGCCTCACCGAGGACTGCG	0.483000													35	138					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150324854C>T	ENST00000328902.5	-	3	1048	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	278							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGATTCCTTCTGGATC	0.572000													19	130					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455871	76455871	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:76455871G>A	ENST00000389840.5	-	60	9730	c.9606C>T	c.(9604-9606)gcC>gcT	p.A3202A	DNAH17_ENST00000585328.1_Silent_p.A3211A|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											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)			CTCACTTGAAGGCCTTCAGGC	0.602000													26	65					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048139	86048139	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:86048139C>T	ENST00000414626.2	+	13	3099	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	LRRCC1_ENST00000360375.3_Missense_Mutation_p.S757L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	757					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCAAGGAATCACTAATATTT	0.353000													14	93					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765904	60765904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:60765904G>A	ENST00000303375.5	+	22	3506	c.3104G>A	c.(3103-3105)tGg>tAg	p.W1035*	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1035	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TTTGACCTTTGGATTGGCCTC	0.567000													31	177					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148523568	148523568	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:148523568G>A	ENST00000320356.2	-	8	1006	c.885C>T	c.(883-885)ttC>ttT	p.F295F	EZH2_ENST00000541220.1_Silent_p.F286F|EZH2_ENST00000476773.1_Silent_p.F286F|EZH2_ENST00000478654.1_Silent_p.F286F|EZH2_ENST00000460911.1_Silent_p.F295F|EZH2_ENST00000483967.1_Silent_p.F286F|EZH2_ENST00000350995.2_Silent_p.F256F|EZH2_ENST00000536783.1_Silent_p.F186F	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	295	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TACGATGTAGGAAGCAGTCAT	0.353000			Mis		DLBCL								18	47					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985247	21985247	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:21985247G>A	ENST00000381418.4	-	3	2188	c.708C>T	c.(706-708)caC>caT	p.H236H	HR_ENST00000312841.8_Silent_p.H236H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	236							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCTCTGCAGGTGCCCACCAG	0.602000													66	180					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74728995	74728995	+	Silent	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:74728995G>A	ENST00000397860.3	-	4	583	c.369C>T	c.(367-369)gaC>gaT	p.D123D	MBP_ENST00000578193.1_5'UTR|MBP_ENST00000397875.3_5'UTR|MBP_ENST00000382582.3_5'UTR|MBP_ENST00000359645.3_5'UTR|MBP_ENST00000397863.1_Silent_p.D123D|MBP_ENST00000526111.1_5'UTR|MBP_ENST00000355994.2_Silent_p.D123D|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Silent_p.D123D|MBP_ENST00000528160.1_5'UTR|MBP_ENST00000397869.3_5'UTR|MBP_ENST00000579129.1_Silent_p.D123D|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000527041.1_5'UTR|MBP_ENST00000397866.4_5'UTR|MBP_ENST00000397865.5_5'UTR	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	123					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TGGCTGCACTGTCTTCTTGGA	0.592000													13	67					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790844	8790844	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:8790844C>T	ENST00000405863.1	+	3	1172	c.261C>T	c.(259-261)ctC>ctT	p.L87L	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	87	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGCAAGACCTCTGGGACTGGC	0.488000													9	83					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:115998159G>A	ENST00000264363.2	-	2	712	c.34C>T	c.(34-36)Cga>Tga	p.R12*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000													9	23					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51486939	51486939	+	Silent	SNP	C	C	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:51486939C>T	ENST00000340438.4	+	1	459	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	73					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GCCGTCCTTCCTGCGGGGCCC	0.667000													5	32					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggcfs	p.G246fs	NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													3	6	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						AATTTGCCAAAGAGAGAGAGAG	0.510													7	144	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
DNAJB8	165721	broad.mit.edu	37	3	128181788	128181788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:128181788delG	ENST00000469083.1	-	2	2858	c.301delC	c.(301-303)ggfs	p.R101fs	DNAJB8_ENST00000319153.3_Frame_Shift_Del_p.R101fs			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	101					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		AAAAACTCCCGGAAGATGTCC	0.632													30	135	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140453134	140453136	+	In_Frame_Del	DEL	TCA	TCA	-	rs121913377		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:140453134_140453136delTCA	ENST00000288602.6	-	15	1859_1861	c.1799_1801delTGA	c.(1798-1803)gaa>g	p.VK600del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.K601E(40)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCTAG	0.374	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				79	94	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													3	6	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091424	19091425	+	RNA	INS	-	-	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:19091424_19091425insT	ENST00000365494.1	+	0	96_97																											gagaggtagcgttttctcctga	0.490													9	763	---	---	---	---					
NFATC2	4773	broad.mit.edu	37	20	50092010	50092010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:50092010delT	ENST00000371564.3	-	4	1739	c.1520delA	c.(1519-1521)acfs	p.N508fs	NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs|NFATC2_ENST00000396009.3_Frame_Shift_Del_p.N508fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	508	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTCATGTTGTTTTTGGGCTC	0.572													9	239	---	---	---	---					
