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
POLQ	10721	broad.mit.edu	37	3	121209076	121209076	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:121209076C>A	ENST00000264233.5	-	16	2830	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	901					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAACAGGGCACATGGATTCCA	0.393000								DNA polymerases (catalytic subunits)					33	42					4.3181e-19	7.19683e-19	0.002836	1	0
PIFO	128344	broad.mit.edu	37	1	111892810	111892810	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:111892810G>C	ENST00000369738.4	+	5	837	c.472G>C	c.(472-474)Gtt>Ctt	p.V158L	PIFO_ENST00000369737.4_Missense_Mutation_p.V125L|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2			primary cilia formation																		CTGGGCTCAGGTTCCATGTCT	0.413000													24	101					0	0	0.002780	0	0
DCHS1	8642	broad.mit.edu	37	11	6648071	6648071	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:6648071G>A	ENST00000299441.3	-	14	6610	c.6199C>T	c.(6199-6201)Cgc>Tgc	p.R2067C		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2067	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGGAAAGCGGGGTCCACGC	0.597000													9	25					0	0	0.006214	0	0
CCDC108	255101	broad.mit.edu	37	2	219892675	219892675	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:219892675G>T	ENST00000341552.5	-	13	1991	c.1908C>A	c.(1906-1908)ttC>ttA	p.F636L	CCDC108_ENST00000441968.1_Missense_Mutation_p.F636L|CCDC108_ENST00000453220.1_Missense_Mutation_p.F636L|CCDC108_ENST00000410037.1_Missense_Mutation_p.F571L|CCDC108_ENST00000409865.3_Missense_Mutation_p.F625L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	636						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCGAAGAAGAACTCGGTCA	0.607000													21	83					3.10358e-05	3.69219e-05	0.002299	1	0
NPAP1	23742	broad.mit.edu	37	15	24923001	24923001	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:24923001A>T	ENST00000329468.2	+	1	2461	c.1987A>T	c.(1987-1989)Agt>Tgt	p.S663C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTCTCTCCCCAGTGCCTGTGT	0.507000													18	91					0	0	0.001882	0	0
ZNF12	7559	broad.mit.edu	37	7	6731811	6731811	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:6731811C>T	ENST00000405858.1	-	5	1303	c.762G>A	c.(760-762)tcG>tcA	p.S254S	ZNF12_ENST00000342651.5_Silent_p.S216S|ZNF12_ENST00000404360.1_Silent_p.S180S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	254					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CAGTGAGGTCCGACATCTGGA	0.383000													13	20					0	0	0.001368	0	0
PLCG2	5336	broad.mit.edu	37	16	81965179	81965179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:81965179G>T	ENST00000359376.3	+	25	2873	c.2659G>T	c.(2659-2661)Gag>Tag	p.E887*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	887					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E887*(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCTCCGGTGGAGTTTGCCAC	0.532000													16	59					2.32078e-09	3.24158e-09	0.003163	1	0
CPS1	1373	broad.mit.edu	37	2	211504723	211504723	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:211504723C>A	ENST00000233072.5	+	24	3095	c.2899C>A	c.(2899-2901)Cat>Aat	p.H967N	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.H516N|CPS1_ENST00000430249.2_Missense_Mutation_p.H973N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	967					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCCTCAGGAGCATGATGTCAA	0.313000													7	40					1.76689e-08	2.3905e-08	0.006214	1	0
DKK2	27123	broad.mit.edu	37	4	107845182	107845182	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:107845182G>T	ENST00000285311.3	-	4	1414	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	DKK2_ENST00000513208.1_Missense_Mutation_p.L137M|DKK2_ENST00000510463.1_Missense_Mutation_p.L191M	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	237	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTGCAAGACAGGCCCTTCGCA	0.488000													18	69					2.35188e-11	3.4824e-11	0.006122	1	0
OR8D2	283160	broad.mit.edu	37	11	124189266	124189266	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:124189266C>T	ENST00000357438.2	-	1	918	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGATGTAGAACACAGAAGACA	0.433000													18	101					0	0	0.006122	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37349800	37349800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:37349800C>A	ENST00000233057.4	-	12	1238	c.916G>T	c.(916-918)Gag>Tag	p.E306*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E306*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E265*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	306	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ACTTCACGCTCCGCCTTCCTA	0.408000													9	44					0.00448238	0.00483257	0.004482	1	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632000													25	128					0	0	0.004656	0	0
ITK	3702	broad.mit.edu	37	5	156671307	156671307	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:156671307G>T	ENST00000422843.3	+	13	1420	c.1268G>T	c.(1267-1269)gGg>gTg	p.G423V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	423	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGCTGTATGGGGTGTGCCTG	0.522000			T	SYK	peripheral T-cell lymphoma								9	42					3.07112e-06	3.82504e-06	0.000978	1	0
OR51A2	401667	broad.mit.edu	37	11	4976042	4976042	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:4976042C>A	ENST00000380371.1	-	1	901	c.902G>T	c.(901-903)aGa>aTa	p.R301I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTCTCACTCTAATCTGTTT	0.353000													50	28					8.99859e-20	1.52932e-19	0.003610	1	0
MCAM	4162	broad.mit.edu	37	11	119185575	119185575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:119185575G>T	ENST00000264036.4	-	3	382	c.368C>A	c.(367-369)tCc>tAc	p.S123Y		NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	123	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GTACTCCTGGGACCGAGGGCG	0.642000													34	37					4.31634e-10	6.17899e-10	0.002445	1	0
IGHA1	3493	broad.mit.edu	37	14	106174156	106174156	+	RNA	SNP	G	G	T	rs1129604		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:106174156G>T	ENST00000390547.2	-	0	632																											GCGGGGTCTTGGACTCGGGGT	0.617000													16	28					4.14922e-12	6.30608e-12	0.004007	1	0
COL9A3	1299	broad.mit.edu	37	20	61452879	61452879	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:61452879C>A	ENST00000343916.3	+	7	369	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	122	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCCTGGACCCCCCGTGAGTA	0.647000													9	43					0.00829132	0.00885605	0.008291	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873753	91873753	+	Silent	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:91873753T>A	ENST00000373094.1	+	7	4703	c.3858T>A	c.(3856-3858)gcT>gcA	p.A1286A	PCDH11X_ENST00000373097.1_Silent_p.A1276A|PCDH11X_ENST00000406881.1_Silent_p.A1278A|PCDH11X_ENST00000298274.8_Silent_p.A1249A|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.A1268A|PCDH11X_ENST00000373088.1_Silent_p.A1249A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1286					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						TGCAAGGTGCTGATGGGCTAT	0.488000													59	123					0	0	0.003610	0	0
BPTF	2186	broad.mit.edu	37	17	65944403	65944403	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:65944403A>T	ENST00000321892.4	+	25	8346	c.8285A>T	c.(8284-8286)gAt>gTt	p.D2762V	BPTF_ENST00000306378.6_Missense_Mutation_p.D2636V|BPTF_ENST00000335221.5_Missense_Mutation_p.D2619V|BPTF_ENST00000424123.3_Missense_Mutation_p.D2480V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2762					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGGACAAGGATCTGCAAATT	0.463000													10	28					0	0	0.000978	0	0
RAB31	11031	broad.mit.edu	37	18	9792205	9792205	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:9792205C>A	ENST00000578921.1	+	3	415	c.174C>A	c.(172-174)ctC>ctA	p.L58L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	57					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ACAAGTTCCTCATCTGGGACA	0.408000													9	16					5.16669e-11	7.58514e-11	0.000978	1	0
FAM90A1	55138	broad.mit.edu	37	12	8374735	8374735	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:8374735C>T	ENST00000538603.1	-	7	1636	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D360N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	360							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGCTGCCGGTCGCCGCTAAGC	0.677000													5	57					0	0	0.001168	0	0
WDR64	128025	broad.mit.edu	37	1	241907716	241907716	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:241907716C>A	ENST00000366552.2	+	12	1669	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I	WDR64_ENST00000437684.2_Missense_Mutation_p.L488I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	488										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CGAGACTGGGCTCCAAGTATA	0.398000													12	41					5.50884e-06	6.71572e-06	0.001368	1	0
SCN2A	6326	broad.mit.edu	37	2	166172258	166172258	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:166172258C>T	ENST00000375437.2	+	11	1951	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	SCN2A_ENST00000283256.6_Missense_Mutation_p.S554F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S554F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S554F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	554					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	AGATTTTCTTCTCCACACCAG	0.348000													18	55					0	0	0.001882	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579728	81579728	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:81579728T>A	ENST00000356860.3	-	39	3594	c.3256A>T	c.(3256-3258)Agc>Tgc	p.S1086C	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S298C|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S1098C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1098						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CGGTGTGTGCTGCCAGATACC	0.448000													14	60					0	0	0.004007	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915411	39915411	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:39915411C>G	ENST00000425673.1	+	17	3876	c.3551C>G	c.(3550-3552)cCt>cGt	p.P1184R	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1213R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1154R			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1213	Pro-rich.				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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGCCACACCTTTACCTGAG	0.537000													15	252					0	0	0.004990	0	0
CCL25	6370	broad.mit.edu	37	19	8121118	8121118	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:8121118G>A	ENST00000253451.4	+	3	262	c.156G>A	c.(154-156)caG>caA	p.Q52Q	CCL25_ENST00000315626.4_Silent_p.Q52Q|CCL25_ENST00000390669.3_Silent_p.Q52Q	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	52					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ACCGGATCCAGGAGGTGAGCG	0.667000													30	18					0	0	0.002096	0	0
ACAA2	10449	broad.mit.edu	37	18	47317871	47317871	+	Silent	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:47317871T>A	ENST00000285093.10	-	7	1327	c.852A>T	c.(850-852)gtA>gtT	p.V284V	ACAA2_ENST00000589432.1_Silent_p.V229V|ACAA2_ENST00000587994.1_Silent_p.V281V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	284					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CACATCCAGATACAAAGTAGC	0.398000													19	41					0	0	0.006122	0	0
ITIH5	80760	broad.mit.edu	37	10	7621754	7621754	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:7621754A>T	ENST00000256861.6	-	9	1460	c.1382T>A	c.(1381-1383)gTg>gAg	p.V461E	ITIH5_ENST00000397146.2_Missense_Mutation_p.V461E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.V243E|ITIH5_ENST00000397145.2_Missense_Mutation_p.V461E|ITIH5_ENST00000298441.6_Missense_Mutation_p.V247E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	461	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCCTCGTGCACGCGCCGTGT	0.622000													13	94					0	0	0.001855	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332454	71332454	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:71332454C>A	ENST00000242462.4	-	2	375	c.346G>T	c.(346-348)Gac>Tac	p.D116Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	116	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AGCTTCGCGTCGTCTGGGAAG	0.622000													7	43					8.12818e-05	9.34741e-05	0.001984	1	0
TMEM98	26022	broad.mit.edu	37	17	31258574	31258574	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:31258574G>T	ENST00000579849.1	+	3	459	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C	TMEM98_ENST00000394642.3_Missense_Mutation_p.G10C|TMEM98_ENST00000578289.1_Missense_Mutation_p.G10C	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	10						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TGTTGCCATAGGTGTGCTGGC	0.567000													10	7					5.50884e-06	6.71572e-06	0.001368	1	0
XIRP2	129446	broad.mit.edu	37	2	168101680	168101680	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:168101680T>A	ENST00000409195.1	+	9	3867	c.3778T>A	c.(3778-3780)Tgt>Agt	p.C1260S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.C1260S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.C1038S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1085					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						AGGTGATGAATGTGTTAAGAC	0.338000													10	52					0	0	0.000978	0	0
MAP2	4133	broad.mit.edu	37	2	210560620	210560620	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:210560620G>C	ENST00000360351.4	+	7	4232	c.3726G>C	c.(3724-3726)caG>caC	p.Q1242H	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q1238H|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1242					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGAAGCCCAGGGAGAATATG	0.488000													6	54					0	0	0.001168	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719564	162719564	+	Missense_Mutation	SNP	A	A	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:162719564A>C	ENST00000375514.5	+	7	1078	c.791A>C	c.(790-792)gAc>gCc	p.D264A	SLC4A10_ENST00000421911.1_Missense_Mutation_p.D253A|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D253A|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D253A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D253A|SLC4A10_ENST00000535165.1_Missense_Mutation_p.D253A	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	253					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATTCCATGGACAAAAATGGT	0.338000													5	35					0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136570242	136570242	+	Silent	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:136570242G>C	ENST00000264162.2	-	7	2002	c.1992C>G	c.(1990-1992)ccC>ccG	p.P664P		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	664	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGAACTCGGGGAGTTGAG	0.557000													30	58					0	0	0.002445	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451174	110451174	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:110451174C>G	ENST00000378402.5	+	32	3913	c.3809C>G	c.(3808-3810)aCa>aGa	p.T1270R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1270	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1272R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAACTCACACAAAACATG	0.343000										HNSCC(38;0.096)			50	30					0	0	0.003610	0	0
NOP2	4839	broad.mit.edu	37	12	6672656	6672656	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:6672656C>T	ENST00000541778.1	-	8	1189	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	NOP2_ENST00000399466.2_Missense_Mutation_p.R234Q|NOP2_ENST00000545200.1_Missense_Mutation_p.R234Q|NOP2_ENST00000382421.3_Missense_Mutation_p.R271Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.R238Q|NOP2_ENST00000322166.5_Missense_Mutation_p.R238Q			P46087	NOP2_HUMAN	NOP2 nucleolar protein	238					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTTGTGAACTCGTTGCAGGTC	0.547000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	0.009096	0	0
NLRP14	338323	broad.mit.edu	37	11	7065050	7065050	+	Missense_Mutation	SNP	C	C	A	rs148807230		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:7065050C>A	ENST00000299481.4	+	4	2139	c.1793C>A	c.(1792-1794)gCa>gAa	p.A598E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	598					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)		ATAAGCCAGGCAATGAGATGT	0.408000													28	55					6.38683e-12	9.66428e-12	0.008361	1	0
TRPV4	59341	broad.mit.edu	37	12	110222182	110222182	+	Silent	SNP	C	C	A	rs141301107		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:110222182C>A	ENST00000418703.2	-	14	2491	c.2397G>T	c.(2395-2397)ccG>ccT	p.P799P	TRPV4_ENST00000537083.1_Silent_p.P739P|TRPV4_ENST00000541794.1_Silent_p.P752P|TRPV4_ENST00000346520.2_Silent_p.P739P|TRPV4_ENST00000261740.2_Silent_p.P799P|TRPV4_ENST00000392719.2_Silent_p.P752P|TRPV4_ENST00000544971.1_Silent_p.P692P|TRPV4_ENST00000536838.1_Silent_p.P765P	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	799			P -> A (in MTD).|P -> L (in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type).|P -> R (in MTD).|P -> S (in MTD).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CATTCTTGCCCGGGTCCTCGT	0.627000													39	81					9.62906e-15	1.54513e-14	0.006230	1	0
KLB	152831	broad.mit.edu	37	4	39408945	39408945	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:39408945G>T	ENST00000257408.4	+	1	473	c.376G>T	c.(376-378)Ggt>Tgt	p.G126C		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	126	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGCACGAATGGTTCCAGTGA	0.388000													47	102					1.0331e-37	1.85634e-37	0.003610	1	0
TRPC4	7223	broad.mit.edu	37	13	38237769	38237769	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr13:38237769C>T	ENST00000379705.3	-	6	2329	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H	TRPC4_ENST00000379681.3_Missense_Mutation_p.R491H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R491H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R491H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R491H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R318H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.R491H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R318H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	491					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.R491H(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGAGATCAGACGCAGAGAACT	0.448000													7	14					0	0	0.001984	0	0
ADAM7	8756	broad.mit.edu	37	8	24342843	24342843	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:24342843G>T	ENST00000175238.6	+	10	1012	c.929G>T	c.(928-930)tGc>tTc	p.C310F	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.C82F|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.C310F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	310	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGGGTATGTGCCTGCCCTAT	0.358000													35	43					4.00102e-26	6.93644e-26	0.006230	1	0
WDR64	128025	broad.mit.edu	37	1	241904880	241904880	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:241904880C>A	ENST00000366552.2	+	11	1561	c.1354C>A	c.(1354-1356)Cac>Aac	p.H452N	WDR64_ENST00000437684.2_Missense_Mutation_p.H452N	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	452										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACAGGTTCCTCACACTCATGA	0.343000													11	20					0.00829132	0.00885605	0.008291	1	0
ZBTB16	7704	broad.mit.edu	37	11	113935030	113935030	+	Silent	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:113935030G>C	ENST00000335953.4	+	2	1388	c.1008G>C	c.(1006-1008)gtG>gtC	p.V336V	ZBTB16_ENST00000392996.2_Silent_p.V336V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	336					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)		TCTACTCCGTGTTGCCCAACC	0.652000													34	35					0	0	0.002836	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999018	83999018	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:83999018G>T	ENST00000343939.2	+	7	1472	c.1089G>T	c.(1087-1089)gcG>gcT	p.A363A	OSGIN1_ENST00000361711.3_Silent_p.A280A|OSGIN1_ENST00000393306.1_Silent_p.A280A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	363					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGTGGGTGCGGTGACCCCGG	0.697000													8	47					7.48243e-07	9.5256e-07	0.006214	1	0
SPO11	23626	broad.mit.edu	37	20	55906984	55906984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:55906984C>G	ENST00000371263.3	+	2	336	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	76					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GACAACAGATCAAGCTGGGAA	0.313000								Editing and processing nucleases					26	132					0	0	0.004656	0	0
FRYL	285527	broad.mit.edu	37	4	48563563	48563563	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:48563563G>A	ENST00000537810.1	-	33	4391	c.3787C>T	c.(3787-3789)Ctc>Ttc	p.L1263F	FRYL_ENST00000507711.1_Missense_Mutation_p.L1263F|FRYL_ENST00000358350.4_Missense_Mutation_p.L1263F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.L1263F			O94915	FRYL_HUMAN	FRY-like	1263					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAGAATAGAGATGTGGTAGA	0.438000													3	32					0	0	0.004672	0	0
LILRA2	11027	broad.mit.edu	37	19	55086759	55086759	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:55086759G>T	ENST00000251377.3	+	6	825	c.692G>T	c.(691-693)gGt>gTt	p.G231V	LILRA2_ENST00000251376.3_Missense_Mutation_p.G231V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G219V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G231V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGCAGCCAGGTCCTATGGTG	0.557000													15	86					3.99206e-14	6.28886e-14	0.007413	1	0
HYDIN	54768	broad.mit.edu	37	16	70913523	70913523	+	Missense_Mutation	SNP	A	A	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:70913523A>C	ENST00000393567.2	-	61	10502	c.10352T>G	c.(10351-10353)tTg>tGg	p.L3451W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3451										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)				CAAGCCATCCAAGGTAGCCTC	0.577000													6	51					0	0	0.001984	0	0
NAV3	89795	broad.mit.edu	37	12	78562599	78562599	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:78562599A>G	ENST00000397909.2	+	24	5107	c.4934A>G	c.(4933-4935)cAg>cGg	p.Q1645R	NAV3_ENST00000266692.7_Missense_Mutation_p.Q1468R|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1645R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1645R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1645						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTGCTGCCCAGGCGGCTATT	0.398000										HNSCC(70;0.22)			36	55					0	0	0.007835	0	0
GFRAL	389400	broad.mit.edu	37	6	55214912	55214912	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:55214912C>G	ENST00000340465.2	+	4	425	c.339C>G	c.(337-339)ttC>ttG	p.F113L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	113						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)			AGGATAAATTCAAATGGAATC	0.303000													11	47					0	0	0.000978	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227268619	227268619	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:227268619C>A	ENST00000366769.3	-	17	3746	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A738S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A819S|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A819S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A819S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A819S|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A819S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	819					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTGATTTGGGCTTCCCAATGT	0.388000													14	139					4.36969e-10	6.22952e-10	0.001855	1	0
UTP6	55813	broad.mit.edu	37	17	30202318	30202318	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:30202318T>C	ENST00000261708.4	-	14	1377	c.1240A>G	c.(1240-1242)Atc>Gtc	p.I414V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	414					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTTGACTCGATCAGCACCTGC	0.463000													35	65					0	0	0.004289	0	0
CBX2	84733	broad.mit.edu	37	17	77757821	77757821	+	Silent	SNP	G	G	T	rs144185230		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:77757821G>T	ENST00000310942.4	+	5	683	c.579G>T	c.(577-579)ctG>ctT	p.L193L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	193					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGGATCTGGGGGCCCCGG	0.697000													25	40					3.28513e-13	5.12837e-13	0.003954	1	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	175					0	0	0.001168	0	0
SOCS6	9306	broad.mit.edu	37	18	67992499	67992499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:67992499G>T	ENST00000397942.3	+	2	911	c.595G>T	c.(595-597)Gga>Tga	p.G199*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G199*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	199					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTCTCATAATGGAGACCTGCA	0.507000													15	92					4.7546e-09	6.53521e-09	0.004007	1	0
TRPM2	7226	broad.mit.edu	37	21	45825814	45825814	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:45825814G>T	ENST00000397928.1	+	18	3129	c.2684G>T	c.(2683-2685)gGg>gTg	p.G895V	TRPM2_ENST00000300481.9_Missense_Mutation_p.G875V|TRPM2_ENST00000397932.2_Missense_Mutation_p.G895V|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	895						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGTACCCCGGGCGCGTCATC	0.617000													26	79					1.1804e-14	1.88536e-14	0.003954	1	0
ABCA1	19	broad.mit.edu	37	9	107602707	107602707	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:107602707C>T	ENST00000374736.3	-	9	1301	c.907G>A	c.(907-909)Gct>Act	p.A303T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	303					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGAGACACAGCCTGGTAGATT	0.537000													10	34					0	0	0.008291	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19199453	19199453	+	Splice_Site	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:19199453T>A	ENST00000375341.3	-	15	1837		c.e15-2		ALDH4A1_ENST00000538839.1_Splice_Site|ALDH4A1_ENST00000290597.5_Splice_Site|ALDH4A1_ENST00000538309.1_Splice_Site|RP13-279N23.2_ENST00000494072.3_Intron	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1						proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CATTGGTTCCTGCGGAAAAGA	0.567000													8	46					0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10423341	10423341	+	Splice_Site	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:10423341G>T	ENST00000377086.1	+	41	4507	c.4304_splice	c.e41-1	p.S1435_splice	KIF1B_ENST00000263934.6_Splice_Site_p.S1389_splice|KIF1B_ENST00000377081.1_Splice_Site_p.S1435_splice			O60333	KIF1B_HUMAN	kinesin family member 1B	1435					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCAAATAGGAATCGAGTCA	0.363000													7	29					0.000442599	0.000497384	0.006214	1	0
MICU3	286097	broad.mit.edu	37	8	16942779	16942779	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:16942779G>T	ENST00000318063.5	+	6	771	c.729G>T	c.(727-729)atG>atT	p.M243I		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		CTTTCAACATGTTTGACACTG	0.328000													8	50					1.58986e-06	1.99456e-06	0.008291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618376	77618376	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:77618376A>T	ENST00000521891.2	+	2	2501	c.2053A>T	c.(2053-2055)Agg>Tgg	p.R685W	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	685						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)			GCCTCACCCCAGGCTTGCCCG	0.502000										HNSCC(33;0.089)			6	77					0	0	0.001168	0	0
LILRB1	10859	broad.mit.edu	37	19	55146111	55146111	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:55146111G>T	ENST00000396331.1	+	11	1737	c.1380G>T	c.(1378-1380)ggG>ggT	p.G460G	LILRB1_ENST00000434867.2_Silent_p.G460G|LILRB1_ENST00000324602.7_Silent_p.G461G|LILRB1_ENST00000396327.3_Silent_p.G461G|LILRB1_ENST00000427581.2_Silent_p.G510G|LILRB1_ENST00000418536.2_Silent_p.G444G|LILRB1_ENST00000396315.1_Silent_p.G461G|LILRB1_ENST00000396317.1_Silent_p.G444G|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.G460G|LILRB1_ENST00000396321.2_Silent_p.G460G|LILRB1_ENST00000448689.1_Silent_p.G460G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCACCTGGGGGTTGTGATCG	0.567000										HNSCC(37;0.09)			24	17					1.10513e-12	1.70974e-12	0.002299	1	0
SCGB1D4	404552	broad.mit.edu	37	11	62065047	62065047	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:62065047C>T	ENST00000358585.1	-	2	192	c.139G>A	c.(139-141)Gcc>Acc	p.A47T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	47						extracellular region	binding			lung(1)|prostate(1)	2						TTAAGTTTGGCAACTTGGAGG	0.448000													29	147					0	0	0.005443	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232534943	232534943	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:232534943G>T	ENST00000366630.1	-	22	5457	c.5099C>A	c.(5098-5100)tCc>tAc	p.S1700Y	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S756Y|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1700Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1700					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGCGGTCTGGGACTCCTCCTG	0.502000													4	44					0.000602214	0.000674558	0.000602	1	0
PLXND1	23129	broad.mit.edu	37	3	129305058	129305058	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:129305058C>A	ENST00000393239.1	-	4	1856	c.1678G>T	c.(1678-1680)Ggt>Tgt	p.G560C	PLXND1_ENST00000324093.4_Missense_Mutation_p.G560C			Q9Y4D7	PLXD1_HUMAN	plexin D1	560					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCGCCGCACCCACGCAGTCC	0.697000													6	12					0.00448238	0.00483257	0.004482	1	0
VEPH1	79674	broad.mit.edu	37	3	157031456	157031456	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:157031456T>A	ENST00000362010.2	-	11	2271	c.1964A>T	c.(1963-1965)cAc>cTc	p.H655L	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Missense_Mutation_p.H655L|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	655						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCAAAGCTGTGAGCACCCCC	0.488000													5	45					0	0	0.000602	0	0
ZNF454	285676	broad.mit.edu	37	5	178392679	178392679	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:178392679C>G	ENST00000320129.3	+	5	1577	c.1274C>G	c.(1273-1275)tCa>tGa	p.S425*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.S425*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CGGGACCAATCAGCACTAGCC	0.433000													9	26					0	0	0.004482	0	0
PRR16	51334	broad.mit.edu	37	5	120021716	120021716	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:120021716A>T	ENST00000379551.2	+	3	515	c.158A>T	c.(157-159)aAa>aTa	p.K53I	PRR16_ENST00000407149.2_Missense_Mutation_p.K76I|PRR16_ENST00000446965.1_Missense_Mutation_p.K6I|PRR16_ENST00000505123.1_Missense_Mutation_p.K6I	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	76										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACAGCTCCAAAACGGACACG	0.493000													10	42					0	0	0.008291	0	0
LRRC30	339291	broad.mit.edu	37	18	7231236	7231236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:7231236C>G	ENST00000383467.2	+	1	114	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	34										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACGATGCCCTGCTCTCGGG	0.612000													29	90					0	0	0.006320	0	0
WSCD2	9671	broad.mit.edu	37	12	108634285	108634285	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:108634285A>G	ENST00000332082.4	+	9	2127	c.1309A>G	c.(1309-1311)Ata>Gta	p.I437V	WSCD2_ENST00000547525.1_Missense_Mutation_p.I437V|WSCD2_ENST00000261400.3_Missense_Mutation_p.I437V|WSCD2_ENST00000549903.1_Missense_Mutation_p.I437V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	437						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGGCGGCCACATAGGCTTTGC	0.652000													17	73					0	0	0.006122	0	0
OR2V2	285659	broad.mit.edu	37	5	180582665	180582665	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:180582665C>T	ENST00000328275.1	+	1	723	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGGCCACCTGCTCCTCCC	0.577000													14	76					0	0	0.002450	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	52					0	0	0.009096	0	0
RASSF9	9182	broad.mit.edu	37	12	86199250	86199250	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:86199250G>C	ENST00000361228.3	-	2	906	c.538C>G	c.(538-540)Cga>Gga	p.R180G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	180					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTATCTCGATCATGAGAA	0.363000													46	84					0	0	0.003610	0	0
ZNF366	167465	broad.mit.edu	37	5	71756824	71756824	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:71756824G>T	ENST00000318442.5	-	2	990	c.500C>A	c.(499-501)aCt>aAt	p.T167N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGGAATGGAGTGGGCGTTGG	0.642000													25	85					6.36457e-07	8.1932e-07	0.003954	1	0
NOVA1	4857	broad.mit.edu	37	14	26917552	26917552	+	Silent	SNP	C	C	A	rs144344947		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:26917552C>A	ENST00000539517.2	-	5	1454	c.1137G>T	c.(1135-1137)acG>acT	p.T379T	NOVA1_ENST00000267422.7_Silent_p.T257T|NOVA1_ENST00000465357.2_Silent_p.T355T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	382	Ala-rich.				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)		ATGTCCCCGCCGTACCACCAG	0.567000													11	30					0.00136819	0.00150807	0.001368	1	0
BANP	54971	broad.mit.edu	37	16	88061220	88061220	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:88061220C>T	ENST00000393207.1	+	8	1224	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	BANP_ENST00000538234.1_Missense_Mutation_p.R343W|BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000355163.5_Missense_Mutation_p.R310W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	335	Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAGCTTCTCGCGGAGAACGCC	0.682000													13	54					0	0	0.001368	0	0
WRN	7486	broad.mit.edu	37	8	30924680	30924680	+	Silent	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:30924680T>C	ENST00000298139.5	+	6	885	c.636T>C	c.(634-636)taT>taC	p.Y212Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	212	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGAAACTGTATGCAGCCACTG	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				5	44					0	0	0.001168	0	0
MED13L	23389	broad.mit.edu	37	12	116452946	116452946	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:116452946C>A	ENST00000281928.3	-	8	1349	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	381					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCATTCCTTCCAGACTCGAT	0.438000													8	61					1.06961e-07	1.39252e-07	0.003080	1	0
FAN1	22909	broad.mit.edu	37	15	31197996	31197996	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:31197996G>T	ENST00000362065.4	+	2	1421	c.1130G>T	c.(1129-1131)cGg>cTg	p.R377L	FAN1_ENST00000565466.1_Missense_Mutation_p.R377L|FAN1_ENST00000561607.1_Missense_Mutation_p.R377L|FAN1_ENST00000561594.1_Missense_Mutation_p.R377L	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	377					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.R377L(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TACTACCTTCGGAGTTTCCTT	0.428000								Direct reversal of damage					23	90					9.57634e-11	1.38817e-10	0.003330	1	0
FCER2	2208	broad.mit.edu	37	19	7764626	7764626	+	Splice_Site	SNP	T	T	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:7764626T>G	ENST00000346664.5	-	2	233	c.22_splice	c.e2+1	p.S7_splice	FCER2_ENST00000597921.1_Splice_Site_p.S7_splice	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	7					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCCTCCTACCTGAATATTGAC	0.562000													16	20					0	0	0.007413	0	0
BDNF	627	broad.mit.edu	37	11	27680088	27680088	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:27680088C>T	ENST00000525528.1	-	1	1117	c.24G>A	c.(22-24)atG>atA	p.M8I	BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.M8I|BDNF_ENST00000395981.3_Missense_Mutation_p.M8I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.M8I|BDNF_ENST00000420794.1_Missense_Mutation_p.M8I|BDNF_ENST00000395978.3_Missense_Mutation_p.M8I|BDNF_ENST00000314915.6_Missense_Mutation_p.M16I|BDNF_ENST00000418212.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.M8I|BDNF_ENST00000533131.1_Missense_Mutation_p.M8I|BDNF_ENST00000525950.1_Missense_Mutation_p.M8I|BDNF_ENST00000395986.2_Missense_Mutation_p.M23I|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.M8I|BDNF_ENST00000438929.1_Missense_Mutation_p.M90I|BDNF_ENST00000395980.2_Missense_Mutation_p.M8I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	8						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ATGAAATAACCATAGTAAGGA	0.493000													31	84					0	0	0.002445	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964012	33964012	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:33964012C>A	ENST00000382102.3	-	3	729	c.672G>T	c.(670-672)ttG>ttT	p.L224F	SLC45A2_ENST00000296589.4_Missense_Mutation_p.L224F|SLC45A2_ENST00000342059.3_Missense_Mutation_p.L165F|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	224					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AAGTGAGCACCAATGCAGAGA	0.512000													38	56					3.76114e-14	5.95226e-14	0.004289	1	0
ZNF467	168544	broad.mit.edu	37	7	149462585	149462585	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:149462585C>A	ENST00000302017.3	-	5	1419	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGAGAAGCGGACGAGTCG	0.657000													5	9					0.00116845	0.00129203	0.001168	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55364050	55364050	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:55364050G>T	ENST00000398661.2	-	7	811	c.680C>A	c.(679-681)cCg>cAg	p.P227Q	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P197Q|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P165Q	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	227							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACTTTTTGCGGTGTAATACT	0.318000													7	68					3.86212e-05	4.47125e-05	0.008291	1	0
COL14A1	7373	broad.mit.edu	37	8	121259915	121259915	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:121259915C>T	ENST00000297848.3	+	21	2813	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T753M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T848M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	848	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGCGCATTACGTGGGACCCC	0.468000													38	84					0	0	0.007835	0	0
MUC16	94025	broad.mit.edu	37	19	9024194	9024194	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:9024194C>A	ENST00000397910.4	-	18	37281	c.37078G>T	c.(37078-37080)Ggg>Tgg	p.G12360W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12362					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						GTGGAGGTCCCAGGAGCTGAG	0.488000													10	15					2.80697e-09	3.90486e-09	0.000978	1	0
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	A	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:113275890A>C	ENST00000297405.5	-	61	10084	c.9840T>G	c.(9838-9840)agT>agG	p.S3280R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3280	Sushi 25.					integral to membrane|plasma membrane		p.S3240R(2)|p.S3280R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACTTCACCACTCCAGGTAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	41					0	0	0.001984	0	0
SYT7	9066	broad.mit.edu	37	11	61300564	61300564	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:61300564G>C	ENST00000263846.4	-	4	575	c.248C>G	c.(247-249)gCc>gGc	p.A83G	SYT7_ENST00000540677.1_Missense_Mutation_p.A158G|SYT7_ENST00000542670.1_Missense_Mutation_p.A291G|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.A127G|SYT7_ENST00000539008.1_Missense_Mutation_p.A366G|SYT7_ENST00000535826.1_Missense_Mutation_p.A202G	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	83						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						TGGCACGGGGGCTGTGTTCAC	0.662000													12	51					0	0	0.002450	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721153	65721153	+	RNA	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:65721153G>A	ENST00000532620.1	+	0	1498							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GGCAGCCTACGCACCCAGAGG	0.741000													21	28					0	0	0.008871	0	0
SCN3A	6328	broad.mit.edu	37	2	166003311	166003311	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:166003311A>T	ENST00000360093.3	-	12	2100	c.1609T>A	c.(1609-1611)Ttc>Atc	p.F537I	SCN3A_ENST00000409101.3_Missense_Mutation_p.F537I|SCN3A_ENST00000283254.7_Missense_Mutation_p.F537I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	537						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGAAAAGGAAGCTGCTTCTT	0.428000													19	91					0	0	0.006122	0	0
OR5D16	390144	broad.mit.edu	37	11	55607071	55607071	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:55607071G>T	ENST00000378396.1	+	1	844	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V282M(1)		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)				GTTTTACACCGTGGTGATCCC	0.413000													13	52					0.000151284	0.000173399	0.001855	1	0
TCF12	6938	broad.mit.edu	37	15	57524917	57524917	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:57524917C>T	ENST00000267811.5	+	11	1137	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Missense_Mutation_p.P278L|TCF12_ENST00000452095.2_Missense_Mutation_p.P274L|TCF12_ENST00000537840.1_Missense_Mutation_p.P42L|TCF12_ENST00000333725.5_Missense_Mutation_p.P278L|TCF12_ENST00000343827.3_Missense_Mutation_p.P108L|TCF12_ENST00000543579.1_Missense_Mutation_p.P108L|TCF12_ENST00000438423.2_Missense_Mutation_p.P278L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	278					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TAGAGTTATCCTCCACACTCA	0.383000			T	TEC	extraskeletal myxoid chondrosarcoma								4	23					0	0	0.009096	0	0
EYA2	2139	broad.mit.edu	37	20	45801492	45801492	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:45801492A>T	ENST00000327619.5	+	12	1549	c.1175A>T	c.(1174-1176)aAt>aTt	p.N392I	EYA2_ENST00000357410.3_Missense_Mutation_p.N392I|EYA2_ENST00000317304.6_Missense_Mutation_p.N362I	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	392					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGATGTACAATACCTACAAG	0.602000													15	52					0	0	0.002450	0	0
LRRC32	2615	broad.mit.edu	37	11	76371795	76371795	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:76371795G>T	ENST00000407242.2	-	3	1084	c.842C>A	c.(841-843)aCa>aAa	p.T281K	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.T281K|LRRC32_ENST00000260061.5_Missense_Mutation_p.T281K	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	281						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGGTGGCCCTGTGGGGAGCCG	0.657000													27	25					4.72057e-08	6.26384e-08	0.003954	1	0
TACC2	10579	broad.mit.edu	37	10	123976300	123976300	+	Silent	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:123976300G>C	ENST00000369005.1	+	11	7843	c.7503G>C	c.(7501-7503)ctG>ctC	p.L2501L	TACC2_ENST00000369004.3_Silent_p.L591L|TACC2_ENST00000368999.1_Silent_p.L591L|TACC2_ENST00000515273.1_Silent_p.L2505L|TACC2_ENST00000358010.1_Silent_p.L647L|TACC2_ENST00000360561.3_Silent_p.L579L|TACC2_ENST00000515603.1_Silent_p.L2456L|TACC2_ENST00000369001.1_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L2501L|TACC2_ENST00000513429.1_Silent_p.L647L|TACC2_ENST00000369000.1_Silent_p.L201L|TACC2_ENST00000260733.3_Silent_p.L579L|TACC2_ENST00000453444.2_Silent_p.L2505L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2501						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTCGGACCTGTCCACCTTTG	0.562000													25	80					0	0	0.003330	0	0
WSCD2	9671	broad.mit.edu	37	12	108589931	108589931	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:108589931G>T	ENST00000332082.4	+	3	1140	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	WSCD2_ENST00000547525.1_Missense_Mutation_p.G108C|WSCD2_ENST00000261400.3_Missense_Mutation_p.G108C|WSCD2_ENST00000549903.1_Missense_Mutation_p.G108C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	108						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCGACTACGGTGGAGCCTG	0.607000													15	59					2.61681e-11	3.85812e-11	0.002450	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047942	46047942	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:46047942C>T	ENST00000397911.3	+	1	903	c.854C>T	c.(853-855)tCc>tTc	p.S285F	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	285						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TACAGCTTCTCCTCAGGCCAG	0.701000													27	63					0	0	0.007291	0	0
MUM1	84939	broad.mit.edu	37	19	1360189	1360189	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:1360189C>T	ENST00000311401.5	+	5	451	c.65C>T	c.(64-66)tCg>tTg	p.S22L	MUM1_ENST00000415183.3_Missense_Mutation_p.S91L|MUM1_ENST00000344663.3_Missense_Mutation_p.S91L|MUM1_ENST00000591806.1_Missense_Mutation_p.S91L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	90					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGACGGTCGCTTCGCGTG	0.587000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	0.003163	0	0
HDAC9	9734	broad.mit.edu	37	7	18788664	18788664	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:18788664G>T	ENST00000406451.3	+	14	2087	c.1937G>T	c.(1936-1938)tGc>tTc	p.C646F	HDAC9_ENST00000441542.2_Missense_Mutation_p.C649F|HDAC9_ENST00000432645.2_Missense_Mutation_p.C646F|HDAC9_ENST00000401921.1_Missense_Mutation_p.C605F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	646	Histone deacetylase.			HQCV -> KPNS (in Ref. 8; AAF04254).	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)	AAACACCAGTGCGTTTGTGGC	0.448000													6	26					2.7689e-08	3.73152e-08	0.001984	1	0
GRM7	2917	broad.mit.edu	37	3	6903146	6903146	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:6903146T>A	ENST00000486284.1	+	1	345	c.71T>A	c.(70-72)cTc>cAc	p.L24H	GRM7_ENST00000402647.2_Missense_Mutation_p.L24H|GRM7_ENST00000403881.1_Missense_Mutation_p.L24H|GRM7_ENST00000357716.4_Missense_Mutation_p.L24H|GRM7_ENST00000389336.4_Missense_Mutation_p.L24H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	24					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)	CTGGAGGTGCTCCTGTGCGCG	0.706000													4	8					0	0	0.009096	0	0
GABRA1	2554	broad.mit.edu	37	5	161300189	161300189	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:161300189A>G	ENST00000428797.2	+	6	677	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	GABRA1_ENST00000437025.2_Missense_Mutation_p.M108V|GABRA1_ENST00000444819.1_Missense_Mutation_p.M108V|GABRA1_ENST00000393943.4_Missense_Mutation_p.M108V|GABRA1_ENST00000023897.6_Missense_Mutation_p.M108V|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	108					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)	TAAAGGACCTATGACAGTCCT	0.383000													11	67					0	0	0.000978	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37349801	37349801	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:37349801C>A	ENST00000233057.4	-	12	1237	c.915G>T	c.(913-915)gcG>gcT	p.A305A	EIF2AK2_ENST00000395127.2_Silent_p.A305A|EIF2AK2_ENST00000405334.1_Silent_p.A264A	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	305	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTCACGCTCCGCCTTCCTAG	0.413000													9	45					0.00448238	0.00483257	0.004482	1	0
LHX8	431707	broad.mit.edu	37	1	75596413	75596413	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:75596413G>C	ENST00000294638.5	+	2	678	c.14G>C	c.(13-15)aGc>aCc	p.S5T	RP11-510C10.2_ENST00000446238.1_RNA|RP11-510C10.3_ENST00000427892.1_RNA	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGATTCTGAGCAGGGTAAGT	0.448000													14	67					0	0	0.004007	0	0
COBL	23242	broad.mit.edu	37	7	51261079	51261079	+	Silent	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:51261079A>G	ENST00000395542.2	-	3	637	c.453T>C	c.(451-453)ccT>ccC	p.P151P	COBL_ENST00000395540.2_Silent_p.P151P|COBL_ENST00000441453.1_Silent_p.P151P|COBL_ENST00000265136.7_Silent_p.P151P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	151										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TACTAACCTCAGGCACCTTAG	0.463000													6	22					0	0	0.001168	0	0
PKP1	5317	broad.mit.edu	37	1	201291167	201291167	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:201291167C>A	ENST00000263946.3	+	9	1723	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	PKP1_ENST00000367324.3_Missense_Mutation_p.P470H|PKP1_ENST00000352845.3_Missense_Mutation_p.P491H	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	491					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCGAGGTGCCCACCCGCTAC	0.607000													16	39					0.00316338	0.00344279	0.003163	1	0
CYP7A1	1581	broad.mit.edu	37	8	59407086	59407086	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:59407086G>T	ENST00000301645.3	-	4	1155	c.1018C>A	c.(1018-1020)Ctg>Atg	p.L340M		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	340					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGGTCATTCAGTTCTGCTTGA	0.353000									Neonatal Giant Cell Hepatitis				6	53					0.00116845	0.00129203	0.001168	1	0
E2F8	79733	broad.mit.edu	37	11	19252381	19252381	+	Splice_Site	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:19252381C>A	ENST00000527884.1	-	8	1299	c.1066_splice	c.e8-1	p.G356_splice	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Splice_Site_p.G356_splice	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	356					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGCTGGAGCCTGAAACAGA	0.413000													11	24					4.68919e-08	6.24622e-08	0.008291	1	0
NFASC	23114	broad.mit.edu	37	1	204948500	204948500	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:204948500C>T	ENST00000367172.4	+	19	2317	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V	NFASC_ENST00000339876.6_Silent_p.V663V|NFASC_ENST00000367169.4_Silent_p.V663V|NFASC_ENST00000338586.6_Silent_p.V663V|NFASC_ENST00000367171.4_Silent_p.V648V|NFASC_ENST00000404076.1_Silent_p.V642V|NFASC_ENST00000539706.1_Silent_p.V659V|NFASC_ENST00000338515.6_Silent_p.V663V|NFASC_ENST00000401399.1_Silent_p.V663V|NFASC_ENST00000360049.4_Silent_p.V659V|NFASC_ENST00000404907.1_Silent_p.V659V|NFASC_ENST00000513543.1_Silent_p.V659V|NFASC_ENST00000367170.4_Silent_p.V663V			O94856	NFASC_HUMAN	neurofascin	663	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTACGTCGTCCAGTTTGAAG	0.522000													40	68					0	0	0.006999	0	0
PLAGL2	5326	broad.mit.edu	37	20	30785287	30785287	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:30785287G>A	ENST00000246229.4	-	3	723	c.459C>T	c.(457-459)agC>agT	p.S153S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAGGTCACCGCTGCTGGCAG	0.602000													4	31					0	0	0.009096	0	0
GBP3	2635	broad.mit.edu	37	1	89477519	89477519	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:89477519G>T	ENST00000370481.4	-	7	1280	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	354						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ACCCTGTGCAGGTCCAGCAGC	0.502000													24	54					5.35356e-11	7.79315e-11	0.002780	1	0
SATB2	23314	broad.mit.edu	37	2	200193550	200193550	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:200193550C>A	ENST00000443023.1	-	7	2545	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	SATB2_ENST00000260926.5_Missense_Mutation_p.Q419H|SATB2_ENST00000417098.1_Missense_Mutation_p.Q419H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q301H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q419H|RP11-486F17.1_ENST00000489557.2_RNA			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	419						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAGGAAATTCTGCATGGCCC	0.517000													8	34					1.12685e-05	1.36889e-05	0.004482	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906140	144906140	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:144906140C>A	ENST00000370490.1	+	1	6452	c.2197C>A	c.(2197-2199)Cct>Act	p.P733T	SLITRK2_ENST00000413937.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P733T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	733						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGCCACACCTGCTTACAC	0.483000													55	39					1.57914e-17	2.60672e-17	0.003610	1	0
MYOF	26509	broad.mit.edu	37	10	95129512	95129512	+	Missense_Mutation	SNP	C	C	T	rs149848851	by1000genomes	TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:95129512C>T	ENST00000371501.4	-	25	2601	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R	MYOF_ENST00000359263.4_Missense_Mutation_p.G827R|MYOF_ENST00000371502.4_Missense_Mutation_p.G827R|MYOF_ENST00000358334.5_Missense_Mutation_p.G814R			Q9NZM1	MYOF_HUMAN	myoferlin	827					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACCTTTGGCCCGTTGTTTTTC	0.443000													6	27					0	0	0.001168	0	0
RREB1	6239	broad.mit.edu	37	6	7229815	7229815	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:7229815G>T	ENST00000379938.2	+	10	2020	c.1483G>T	c.(1483-1485)Gcc>Tcc	p.A495S	RREB1_ENST00000334984.6_Missense_Mutation_p.A495S|RREB1_ENST00000379933.3_Missense_Mutation_p.A495S|RREB1_ENST00000349384.6_Missense_Mutation_p.A495S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	495	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCCCTGCCGCCCCACTGCA	0.642000													28	501					3.80469e-20	6.49812e-20	0.009535	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655869	40655869	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:40655869G>A	ENST00000406785.1	-	2	1741	c.1552C>T	c.(1552-1554)Ctt>Ttt	p.L518F	SLC8A1_ENST00000332839.4_Missense_Mutation_p.L518F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L518F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L518F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L518F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L518F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	518					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGCAAGCAAGTGTAGAAACA	0.433000													12	37					0	0	0.000978	0	0
SSH2	85464	broad.mit.edu	37	17	27958980	27958980	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:27958980T>A	ENST00000269033.3	-	15	3302	c.3151A>T	c.(3151-3153)Act>Tct	p.T1051S	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.T1078S	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1051					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGAGCACAGTGACAGATTTT	0.517000													53	48					0	0	0.003610	0	0
STAT5B	6777	broad.mit.edu	37	17	40384145	40384145	+	Translation_Start_Site	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:40384145T>C	ENST00000293328.3	-	2	169	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	1					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CACACAGCCATGGTTTACAAT	0.423000													10	38					0	0	0.008291	0	0
OR2B2	81697	broad.mit.edu	37	6	27879515	27879515	+	Missense_Mutation	SNP	T	T	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:27879515T>G	ENST00000303324.2	-	1	659	c.583A>C	c.(583-585)Aat>Cat	p.N195H		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TCAGCCTCATTTGCTGTTGTG	0.433000													15	84					0	0	0.002450	0	0
NDUFA10	4705	broad.mit.edu	37	2	240944656	240944656	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:240944656G>C	ENST00000252711.2	-	8	961	c.861C>G	c.(859-861)gaC>gaG	p.D287E	NDUFA10_ENST00000307300.4_Missense_Mutation_p.D317E|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D287E	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	287					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AAGTGCGATTGTCCTGCTTGA	0.458000													20	92					0	0	0.001882	0	0
OR52E6	390078	broad.mit.edu	37	11	5862466	5862466	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:5862466C>A	ENST00000329322.5	-	1	661	c.662G>T	c.(661-663)aGg>aTg	p.R221M	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.R225M	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGAGGATCCTGATATGGGA	0.463000													10	31					0.00621372	0.00667829	0.006214	1	0
PRKCDBP	112464	broad.mit.edu	37	11	6341340	6341340	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:6341340G>A	ENST00000303927.3	-	1	537	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.H123Y	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	123										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCAGAACGTGGAGCTTCCCG	0.706000													3	18					0	0	0.009096	0	0
DCHS2	54798	broad.mit.edu	37	4	155219858	155219858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:155219858C>A	ENST00000357232.3	-	18	4242	c.4243G>T	c.(4243-4245)Gga>Tga	p.G1415*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1415	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCAGTATTTCCATCTATTAAA	0.333000													8	39					3.86212e-05	4.47125e-05	0.008291	1	0
ATP10B	23120	broad.mit.edu	37	5	160025868	160025868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:160025868G>T	ENST00000327245.5	-	22	4319	c.3473C>A	c.(3472-3474)cCt>cAt	p.P1158H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1158					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACAAGAGGAGGCAAGGAGGT	0.458000													43	107					2.95478e-19	4.94853e-19	0.008740	1	0
FAM198B	51313	broad.mit.edu	37	4	159091588	159091588	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:159091588T>A	ENST00000592057.1	-	2	1342	c.940A>T	c.(940-942)Agc>Tgc	p.S314C	FAM198B_ENST00000393807.5_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron			Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	0						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCCCAACAGCTGCAAATAACG	0.478000													15	37					0	0	0.002450	0	0
GPR112	139378	broad.mit.edu	37	X	135430302	135430302	+	Silent	SNP	A	A	C	rs149471297		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:135430302A>C	ENST00000394143.1	+	6	4728	c.4437A>C	c.(4435-4437)acA>acC	p.T1479T	GPR112_ENST00000287534.4_Silent_p.T1416T|GPR112_ENST00000412101.1_Silent_p.T1274T|GPR112_ENST00000394141.1_Silent_p.T1274T|GPR112_ENST00000370652.1_Silent_p.T1479T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1479					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)					ACGGTTTTACAGTTCTCTCCG	0.443000													63	41					0	0	0.003610	0	0
TCERG1L	256536	broad.mit.edu	37	10	132965122	132965122	+	Missense_Mutation	SNP	C	C	T	rs145806750	by1000genomes	TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:132965122C>T	ENST00000368642.4	-	5	968	c.883G>A	c.(883-885)Gcc>Acc	p.A295T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	295										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGAGGGCGGGCCACTCGGCCC	0.512000													10	29					0	0	0.008291	0	0
MYO3B	140469	broad.mit.edu	37	2	171262076	171262076	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:171262076G>A	ENST00000334231.6	+	21	2480	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.R818Q|MYO3B_ENST00000409044.3_Missense_Mutation_p.R818Q			Q8WXR4	MYO3B_HUMAN	myosin IIIB	818	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATAATCTACGATGCAAATAC	0.388000													17	33					0	0	0.004007	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134778	114134778	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:114134778C>G	ENST00000259335.4	-	43	4992	c.4993G>C	c.(4993-4995)Gct>Cct	p.A1665P	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1487P|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCCTCATCAGCAATTTCATGC	0.413000													12	47					0	0	0.000978	0	0
GFPT1	2673	broad.mit.edu	37	2	69575396	69575396	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:69575396G>A	ENST00000357308.4	-	11	1094	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	GFPT1_ENST00000361060.4_Missense_Mutation_p.R288C	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	306					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATAGAAAGACGTCCATCCACT	0.448000													20	60					0	0	0.007413	0	0
CSMD1	64478	broad.mit.edu	37	8	2824155	2824155	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:2824155C>G	ENST00000520002.1	-	59	9595	c.9040G>C	c.(9040-9042)Ggg>Cgg	p.G3014R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3013R|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3014R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3014	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCATGAGCCCTGAGGTCTTG	0.537000													9	14					0	0	0.004482	0	0
MC5R	4161	broad.mit.edu	37	18	13825772	13825772	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:13825772C>A	ENST00000324750.3	+	1	230	c.8C>A	c.(7-9)tCc>tAc	p.S3Y		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	3					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCAATGAATTCCTCATTTCAC	0.408000													18	61					1.67942e-08	2.2811e-08	0.006122	1	0
ARMC3	219681	broad.mit.edu	37	10	23321943	23321943	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:23321943G>T	ENST00000298032.5	+	18	2484	c.2400G>T	c.(2398-2400)ttG>ttT	p.L800F	ARMC3_ENST00000376528.4_Missense_Mutation_p.L537F|ARMC3_ENST00000409983.3_Missense_Mutation_p.L793F	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	800							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCGAGCTTTGCTTTTCAAGG	0.363000													5	53					0.00198382	0.00216588	0.001984	1	0
OR1N2	138882	broad.mit.edu	37	9	125316284	125316284	+	Missense_Mutation	SNP	C	C	A	rs142706201		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:125316284C>A	ENST00000373688.2	+	1	894	c.836C>A	c.(835-837)cCt>cAt	p.P279H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TATTTACTTCCTCCATCAACT	0.458000													18	48					1.78486e-19	3.00379e-19	0.007413	1	0
VTN	7448	broad.mit.edu	37	17	26695911	26695911	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:26695911G>T	ENST00000226218.4	-	5	1426	c.808C>A	c.(808-810)Cgg>Agg	p.R270R	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	270	Hemopexin-like 3.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.R270W(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AAGTAGACCCGCTCCCGGCCA	0.587000													56	62					4.46115e-38	8.0581e-38	0.003610	1	0
NDST4	64579	broad.mit.edu	37	4	115856477	115856477	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:115856477T>C	ENST00000264363.2	-	6	2099	c.1421A>G	c.(1420-1422)cAg>cGg	p.Q474R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	474	Heparan sulfate N-deacetylase 4.					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)		CCCACAAGTCTGTCGAGGGAG	0.403000													5	27					0	0	0.000602	0	0
NXPE1	120400	broad.mit.edu	37	11	114393211	114393211	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:114393211C>G	ENST00000536271.1	-	4	1514	c.271G>C	c.(271-273)Gat>Cat	p.D91H	NXPE1_ENST00000251921.2_Missense_Mutation_p.D233H|NXPE1_ENST00000424269.1_Missense_Mutation_p.D375H					neurexophilin and PC-esterase domain family, member 1																		TCATGAAGATCAAAAAACTTC	0.303000													23	9					0	0	0.001882	0	0
FAM131B	9715	broad.mit.edu	37	7	143053838	143053838	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:143053838C>A	ENST00000409408.1	-	6	2512	c.804G>T	c.(802-804)ctG>ctT	p.L268L	FAM131B_ENST00000409578.1_Silent_p.L284L|FAM131B_ENST00000409222.3_Silent_p.L268L|FAM131B_ENST00000409346.1_Silent_p.L268L|FAM131B_ENST00000443739.2_Silent_p.L296L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	268										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCCCCTTGCCAGGTCCACTG	0.632000													24	172					5.45024e-15	8.86949e-15	0.003330	1	0
SHC1	6464	broad.mit.edu	37	1	154942963	154942963	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:154942963G>A	ENST00000448116.2	-	1	260	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.R14W|SHC1_ENST00000368445.5_Missense_Mutation_p.R14W|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368453.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	14					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACTCATTCCGGAGTGGATTG	0.642000													10	144					0	0	0.008291	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219162	65219162	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:65219162C>T	ENST00000380230.3	+	6	563	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ANKDD1A_ENST00000496660.1_Silent_p.L87L|ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Silent_p.L178L|ANKDD1A_ENST00000357698.3_Silent_p.L178L|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395723.1_Silent_p.L87L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	178					signal transduction			p.L178L(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGGACTTCCTCGTGGGCTCTG	0.612000													11	45					0	0	0.001368	0	0
PRDM9	56979	broad.mit.edu	37	5	23524524	23524524	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:23524524C>T	ENST00000296682.3	+	10	1214	c.1032C>T	c.(1030-1032)tgC>tgT	p.C344C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	344	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAGAACCTGCCGAGTCATTA	0.547000										HNSCC(3;0.000094)			53	63					0	0	0.003610	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135892886	135892886	+	Silent	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:135892886A>T	ENST00000264158.8	+	16	1594	c.1551A>T	c.(1549-1551)ctA>ctT	p.L517L	RAB3GAP1_ENST00000442034.1_Silent_p.L517L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.L473L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	517						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATCAGAAACTACAGGTAAAGA	0.333000													4	17					0	0	0.009096	0	0
OR2C3	81472	broad.mit.edu	37	1	247695565	247695565	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:247695565C>A	ENST00000366487.3	-	2	610	c.249G>T	c.(247-249)ctG>ctT	p.L83L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGGTTAGCCAGGAGCTGTG	0.542000													15	39					2.32078e-09	3.24158e-09	0.003163	1	0
MROH9	80133	broad.mit.edu	37	1	170931105	170931105	+	Silent	SNP	A	A	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:170931105A>C	ENST00000367759.4	+	6	517	c.363A>C	c.(361-363)ctA>ctC	p.L121L	MROH9_ENST00000367758.3_Silent_p.L121L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCTACAAACTACAGATCTTAA	0.308000													4	16					0	0	0.000602	0	0
KDM6B	23135	broad.mit.edu	37	17	7754426	7754426	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:7754426A>G	ENST00000254846.5	+	14	4150	c.3761A>G	c.(3760-3762)gAt>gGt	p.D1254G	KDM6B_ENST00000448097.2_Missense_Mutation_p.D1254G	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1254					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CAGCCCTCAGATGAGAACTGG	0.602000													8	48					0	0	0.003080	0	0
TMEM98	26022	broad.mit.edu	37	17	31258575	31258575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:31258575G>T	ENST00000579849.1	+	3	460	c.29G>T	c.(28-30)gGt>gTt	p.G10V	TMEM98_ENST00000394642.3_Missense_Mutation_p.G10V|TMEM98_ENST00000578289.1_Missense_Mutation_p.G10V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	10						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GTTGCCATAGGTGTGCTGGCC	0.562000													9	7					5.50884e-06	6.71572e-06	0.001368	1	0
PABPN1	8106	broad.mit.edu	37	14	23792633	23792633	+	Silent	SNP	C	C	G	rs150035782		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:23792633C>G	ENST00000397276.2	+	4	595	c.582C>G	c.(580-582)ggC>ggG	p.G194G	PABPN1_ENST00000557702.1_Silent_p.G66G|PABPN1_ENST00000556821.1_Silent_p.G66G|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.G221G|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.G221G|PABPN1_ENST00000216727.4_Silent_p.G194G					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACTTTCATGGCTGTGGTTCAG	0.433000													10	86					0	0	0.001855	0	0
OR9G1	390174	broad.mit.edu	37	11	56468517	56468517	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:56468517C>T	ENST00000312153.1	+	1	654	c.654C>T	c.(652-654)ctC>ctT	p.L218L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCTCCTACCTCTTTATCATCA	0.527000													10	201					0	0	0.004007	0	0
TENM2	57451	broad.mit.edu	37	5	167674702	167674702	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:167674702G>T	ENST00000519204.1	+	26	6513	c.6395G>T	c.(6394-6396)cGg>cTg	p.R2132L	TENM2_ENST00000545108.1_Missense_Mutation_p.R2252L|TENM2_ENST00000518659.1_Missense_Mutation_p.R2253L|TENM2_ENST00000520394.1_Missense_Mutation_p.R2014L|TENM2_ENST00000403607.2_Missense_Mutation_p.R2077L					teneurin transmembrane protein 2																		CTCCGGGATCGGATAACCAGA	0.532000													17	40					4.75885e-15	7.78106e-15	0.004990	1	0
NLRP4	147945	broad.mit.edu	37	19	56369436	56369436	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:56369436T>C	ENST00000301295.6	+	3	1099	c.677T>C	c.(676-678)cTc>cCc	p.L226P	NLRP4_ENST00000587891.1_Missense_Mutation_p.L151P|NLRP4_ENST00000346986.5_Missense_Mutation_p.L226P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	226	NACHT.						ATP binding			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)		CCGGAGAGACTCTTGTTCGTC	0.562000													24	71					0	0	0.002780	0	0
CCKAR	886	broad.mit.edu	37	4	26490886	26490886	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:26490886G>T	ENST00000295589.3	-	2	527	c.333C>A	c.(331-333)agC>agA	p.S111R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCAAACGGCGCTCCCGAAGA	0.557000													47	591					1.06522e-23	1.82836e-23	0.003214	1	0
MYLK3	91807	broad.mit.edu	37	16	46766575	46766575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:46766575G>T	ENST00000394809.4	-	4	1122	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	336					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TATGTGGATGGAGATCCTGGG	0.572000													6	10					3.59834e-05	4.22254e-05	0.001168	1	0
OPTC	26254	broad.mit.edu	37	1	203472092	203472092	+	Silent	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:203472092T>C	ENST00000367222.2	+	6	899	c.783T>C	c.(781-783)tcT>tcC	p.S261S		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	261						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCTGGATTCTATCCCGGGGC	0.557000													12	47					0	0	0.000978	0	0
SLC13A3	64849	broad.mit.edu	37	20	45195002	45195002	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:45195002C>A	ENST00000279027.4	-	11	1378	c.1360G>T	c.(1360-1362)Ggg>Tgg	p.G454W	SLC13A3_ENST00000396360.1_Missense_Mutation_p.G372W|SLC13A3_ENST00000290317.5_Missense_Mutation_p.G407W|SLC13A3_ENST00000472148.1_Missense_Mutation_p.G372W|SLC13A3_ENST00000495082.1_Missense_Mutation_p.G407W|SLC13A3_ENST00000435032.1_Missense_Mutation_p.G39W|SLC13A3_ENST00000413164.2_Missense_Mutation_p.G404W	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	454						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)	TGCAGCTGCCCACCAATCCAT	0.617000													25	97					3.01185e-09	4.17304e-09	0.003954	1	0
SAMD14	201191	broad.mit.edu	37	17	48190269	48190269	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:48190269G>T	ENST00000330175.4	-	10	1559	c.1242C>A	c.(1240-1242)gcC>gcA	p.A414A	SAMD14_ENST00000503131.1_Silent_p.A442A	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	414										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGCTCTTCTTGGCCTCCTGCT	0.701000													21	48					1.96292e-10	2.8217e-10	0.010504	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1147438	1147438	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:1147438G>C	ENST00000379236.3	-	5	522	c.518C>G	c.(517-519)gCc>gGc	p.A173G	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	173					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCTGCGTGGCTGGGGGGTC	0.687000													5	16					0	0	0.001168	0	0
AMZ1	155185	broad.mit.edu	37	7	2740255	2740255	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:2740255C>T	ENST00000312371.4	+	2	538	c.170C>T	c.(169-171)aCc>aTc	p.T57I	AMZ1_ENST00000407112.1_Missense_Mutation_p.T57I	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	57							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTCTTCTGCACCCTGCTCATC	0.677000													40	122					0	0	0.005524	0	0
GRHL2	79977	broad.mit.edu	37	8	102570830	102570830	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:102570830G>T	ENST00000251808.3	+	4	806	c.468G>T	c.(466-468)acG>acT	p.T156T	GRHL2_ENST00000395927.1_Silent_p.T140T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	156						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGGAATCACGGTGGTGAAAG	0.522000													79	76					1.63007e-36	2.89884e-36	0.003610	1	0
PLCXD3	345557	broad.mit.edu	37	5	41381978	41381978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:41381978G>T	ENST00000377801.3	-	2	836	c.762C>A	c.(760-762)agC>agA	p.S254R	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S254R			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	254					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGACCACAGTGCTAGCTTTGG	0.438000													22	96					7.92952e-12	1.18428e-11	0.003954	1	0
CPA6	57094	broad.mit.edu	37	8	68423860	68423860	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:68423860C>A	ENST00000297770.4	-	4	563	c.348G>T	c.(346-348)ctG>ctT	p.L116L	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.L116L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	116					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTCCCTTCTCCAGTGTTTTCT	0.383000													27	236					9.39395e-14	1.47314e-13	0.006320	1	0
NFATC3	4775	broad.mit.edu	37	16	68156767	68156767	+	Silent	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:68156767A>T	ENST00000349223.5	+	2	1205	c.981A>T	c.(979-981)ccA>ccT	p.P327P	NFATC3_ENST00000346183.3_Silent_p.P327P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Silent_p.P327P|NFATC3_ENST00000575270.1_Silent_p.P327P	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	327					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAGTTTTTCCATTTCAGTACT	0.483000													19	94					0	0	0.006122	0	0
GPX1	2876	broad.mit.edu	37	3	49394909	49394909	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:49394909G>A	ENST00000419783.1	-	2	845	c.524C>T	c.(523-525)cCc>cTc	p.P175L	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	175					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCTGCGTAGGGGCACACCGTC	0.617000													10	33					0	0	0.001368	0	0
WDR16	146845	broad.mit.edu	37	17	9489141	9489141	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:9489141A>T	ENST00000352665.5	+	2	191	c.122A>T	c.(121-123)tAt>tTt	p.Y41F	WDR16_ENST00000299764.5_Missense_Mutation_p.Y51F|WDR16_ENST00000396219.3_Intron	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	41						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CATATGATTTATCCTCTTGGT	0.463000													22	83					0	0	0.001882	0	0
ARL13B	200894	broad.mit.edu	37	3	93761947	93761947	+	Missense_Mutation	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:93761947A>T	ENST00000535334.1	+	6	1101	c.578A>T	c.(577-579)gAg>gTg	p.E193V	ARL13B_ENST00000394222.3_Missense_Mutation_p.E296V|ARL13B_ENST00000539730.1_Missense_Mutation_p.E17V|ARL13B_ENST00000303097.7_Missense_Mutation_p.E189V|ARL13B_ENST00000471138.1_Missense_Mutation_p.E296V	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	296							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ATGGAGCATGAGCAAATAGAG	0.343000													3	20					0	0	0.009096	0	0
LAMB4	22798	broad.mit.edu	37	7	107756519	107756519	+	Missense_Mutation	SNP	G	G	T	rs140462508	byFrequency	TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:107756519G>T	ENST00000388781.3	-	3	205	c.122C>A	c.(121-123)aCg>aAg	p.T41K	LAMB4_ENST00000388780.3_Missense_Mutation_p.T41K|LAMB4_ENST00000414450.2_Missense_Mutation_p.T41K|LAMB4_ENST00000205386.4_Missense_Mutation_p.T41K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	41	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CATAAGCTGCGTGTTCCTGCC	0.522000													15	99					1.3612e-06	1.72653e-06	0.003163	1	0
DYDC1	143241	broad.mit.edu	37	10	82102070	82102070	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:82102070C>T	ENST00000421924.2	-	4	708	c.297G>A	c.(295-297)agG>agA	p.R99R	DYDC1_ENST00000372204.3_Silent_p.R99R|DYDC1_ENST00000372202.1_Silent_p.R99R			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	99										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			GTATTCTCTGCCTCTCCTTTT	0.323000													12	53					0	0	0.000978	0	0
TPTE	7179	broad.mit.edu	37	21	10920121	10920121	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:10920121T>A	ENST00000298232.7	-	18	1446	c.1079A>T	c.(1078-1080)cAc>cTc	p.H360L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.H378L|TPTE_ENST00000342420.5_Missense_Mutation_p.H340L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	378	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTTCGCTGTGGGTTTTATC	0.383000													6	46					0	0	0.001168	0	0
TMEM130	222865	broad.mit.edu	37	7	98460868	98460868	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:98460868G>A	ENST00000339375.4	-	2	415	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000546258.1_Missense_Mutation_p.L62F|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000416379.2_Missense_Mutation_p.L81F	NM_001134450.1|NM_152913.2	NP_001127922.1|NP_690877.1	Q8N3G9	TM130_HUMAN	transmembrane protein 130	81						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGCCAGTAAGCACCAGCGGG	0.657000													15	24					0	0	0.003163	0	0
PTGFR	5737	broad.mit.edu	37	1	79002247	79002247	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:79002247G>T	ENST00000370757.3	+	3	1192	c.955G>T	c.(955-957)Gcc>Tcc	p.A319S	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.A319S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	319					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CTATAAGCTTGCCAGTCAATG	0.393000													9	40					2.17888e-05	2.60108e-05	0.006214	1	0
GABRG3	2567	broad.mit.edu	37	15	27573971	27573971	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:27573971G>C	ENST00000333743.6	+	5	764	c.510G>C	c.(508-510)gaG>gaC	p.E170D	GABRG3_ENST00000555083.1_Missense_Mutation_p.E170D	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	170					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)		TCAATGCTGAGTGCCAGCTGC	0.597000													8	30					0	0	0.003080	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543575	217543575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:217543575G>T	ENST00000233813.4	-	2	1314	c.565C>A	c.(565-567)Cag>Aag	p.Q189K		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	189	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGCACCTGCTCAGACTCC	0.562000													9	17					2.17888e-05	2.60108e-05	0.006214	1	0
MYH4	4622	broad.mit.edu	37	17	10346844	10346844	+	Splice_Site	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:10346844C>A	ENST00000255381.2	-	40	5778	c.5667_splice	c.e40-1	p.E1890_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1890					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						GATTGTTCCTCCTGAGAACAG	0.443000													12	43					9.05144e-12	1.34601e-11	0.001855	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65349306	65349306	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:65349306C>G	ENST00000284037.5	+	21	2549	c.2160C>G	c.(2158-2160)ttC>ttG	p.F720L	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.F716L|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.F720L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	720					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGGAAAAGTTCAAAGCTCATG	0.289000													12	75					0	0	0.001368	0	0
PTPRT	11122	broad.mit.edu	37	20	40877433	40877433	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:40877433C>T	ENST00000373198.3	-	15	2498	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E736K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E755K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E736K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	736					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)				TTCTCTGGCTCCACAGTGTTA	0.502000													10	34					0	0	0.006214	0	0
GDF2	2658	broad.mit.edu	37	10	48413613	48413613	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:48413613C>T	ENST00000249598.1	-	2	1414	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	419					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTCATGCCCTCGTAATGGTAC	0.617000													9	12					0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168102400	168102400	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:168102400G>A	ENST00000409195.1	+	9	4587	c.4498G>A	c.(4498-4500)Gat>Aat	p.D1500N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1500N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1278N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1325					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						TCGAACTTTCGATTCTATTAT	0.388000													18	27					0	0	0.006122	0	0
WDR64	128025	broad.mit.edu	37	1	241901781	241901781	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:241901781G>C	ENST00000366552.2	+	10	1488	c.1281G>C	c.(1279-1281)atG>atC	p.M427I	WDR64_ENST00000437684.2_Missense_Mutation_p.M427I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	427										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATCATGGCATGCTTATTACGG	0.368000													7	22					0	0	0.001984	0	0
CEP135	9662	broad.mit.edu	37	4	56851486	56851486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:56851486G>T	ENST00000257287.4	+	14	1943	c.1819G>T	c.(1819-1821)Gag>Tag	p.E607*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	607					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.E607Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATCAGAATTAGAGAAAACTAT	0.289000													7	63					8.12818e-05	9.34741e-05	0.001984	1	0
TMEM214	54867	broad.mit.edu	37	2	27260556	27260556	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:27260556G>C	ENST00000238788.9	+	9	1200	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E335Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	380						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGTCCCCCTGAGATGAAGAA	0.557000													19	58					0	0	0.010504	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917105	48917105	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:48917105C>A	ENST00000311378.4	+	2	984	c.456C>A	c.(454-456)acC>acA	p.T152T	WFIKKN2_ENST00000426127.1_Silent_p.T59T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	152	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACGGCCTCACCTACTATAACC	0.592000													24	41					5.35356e-11	7.79315e-11	0.002780	1	0
RHOXF1	158800	broad.mit.edu	37	X	119249424	119249424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:119249424C>A	ENST00000217999.2	-	1	423	c.349G>T	c.(349-351)Gag>Tag	p.E117*	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	117					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CTTTCCAGCTCCTCCACCTGC	0.617000													50	25					1.46156e-29	2.55958e-29	0.003610	1	0
HECW1	23072	broad.mit.edu	37	7	43484944	43484944	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:43484944G>A	ENST00000395891.1	+	11	2778	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	HECW1_ENST00000453890.1_Missense_Mutation_p.A725T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	725					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGTGGACAGCGCCAAGATCTC	0.627000													18	92					0	0	0.007413	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045648	26045648	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:26045648A>G	ENST00000540144.1	+	1	10	c.10A>G	c.(10-12)Acg>Gcg	p.T4A		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	4					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AATGGCTCGTACGAAGCAAAC	0.502000													12	67					0	0	0.001855	0	0
FAN1	22909	broad.mit.edu	37	15	31197997	31197997	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:31197997G>T	ENST00000362065.4	+	2	1422	c.1131G>T	c.(1129-1131)cgG>cgT	p.R377R	FAN1_ENST00000565466.1_Silent_p.R377R|FAN1_ENST00000561607.1_Silent_p.R377R|FAN1_ENST00000561594.1_Silent_p.R377R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	377					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACTACCTTCGGAGTTTCCTTG	0.423000								Direct reversal of damage					24	90					7.92952e-12	1.18428e-11	0.003954	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904123	144904123	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:144904123C>A	ENST00000370490.1	+	1	4435	c.180C>A	c.(178-180)ccC>ccA	p.P60P	SLITRK2_ENST00000413937.2_Silent_p.P60P|SLITRK2_ENST00000447897.2_Silent_p.P60P|SLITRK2_ENST00000428560.2_Silent_p.P60P|SLITRK2_ENST00000434188.2_Silent_p.P60P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	60						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCCCCCCCAGTATCGAA	0.433000													24	8					1.10513e-12	1.70974e-12	0.002299	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87525384	87525384	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:87525384C>A	ENST00000268616.4	-	1	267	c.50G>T	c.(49-51)cGc>cTc	p.R17L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	17					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAGCTCCTGGCGCAGCACCTG	0.711000													6	25					3.59834e-05	4.22254e-05	0.001168	1	0
KIAA1755	85449	broad.mit.edu	37	20	36874455	36874455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:36874455G>T	ENST00000279024.4	-	2	348	c.77C>A	c.(76-78)cCc>cAc	p.P26H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	26										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGGACGGTGGGTGCTGTGGC	0.632000													14	27					6.31663e-08	8.28607e-08	0.003163	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630391	131630391	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:131630391A>G	ENST00000200652.3	+	1	256	c.82A>G	c.(82-84)Agc>Ggc	p.S28G	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	28					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTCAGCGCCAGCATCATCCC	0.657000													10	41					0	0	0.000978	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538184	27538184	+	RNA	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:27538184A>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCGTGGTTGGAGACGGTTTAA	0.532000													51	193					0	0	0.003610	0	0
HEG1	57493	broad.mit.edu	37	3	124746163	124746163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:124746163C>A	ENST00000311127.4	-	3	866	c.799G>T	c.(799-801)Gag>Tag	p.E267*		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	267						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTCCCATCTCCAAAGCAGGA	0.552000													13	20					0.000219431	0.000249848	0.002450	1	0
CACNA1I	8911	broad.mit.edu	37	22	39966877	39966877	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr22:39966877G>A	ENST00000336649.4	+	1	120	c.120G>A	c.(118-120)gaG>gaA	p.E40E	CACNA1I_ENST00000404898.1_Silent_p.E40E|CACNA1I_ENST00000402142.3_Silent_p.E40E|CACNA1I_ENST00000401624.1_Silent_p.E40E|CACNA1I_ENST00000400164.3_Silent_p.E40E|CACNA1I_ENST00000407673.1_Silent_p.E40E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	40					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCTGGAGGAGCCTCTGGATG	0.677000													17	64					0	0	0.004007	0	0
OR2A25	392138	broad.mit.edu	37	7	143771460	143771460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:143771460C>A	ENST00000408898.2	+	1	186	c.148C>A	c.(148-150)Ctg>Atg	p.L50M		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	50					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)					GCTCATCTCACTGGACTCCAG	0.562000													10	93					4.68919e-08	6.24622e-08	0.008291	1	0
RNF157	114804	broad.mit.edu	37	17	74163145	74163145	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:74163145T>A	ENST00000269391.6	-	5	638	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	RNF157_ENST00000319945.6_Missense_Mutation_p.Q169L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	169							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAACTGCTGACACACTCC	0.562000													14	117					0	0	0.002450	0	0
ZNF521	25925	broad.mit.edu	37	18	22806904	22806904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:22806904G>T	ENST00000361524.3	-	4	1126	c.978C>A	c.(976-978)taC>taA	p.Y326*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Y326*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Y106*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	326					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCATGTGGCTGTACAGTTCCT	0.537000			T	PAX5	ALL								11	53					4.68919e-08	6.24622e-08	0.008291	1	0
RUNX1T1	862	broad.mit.edu	37	8	93026891	93026891	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:93026891C>A	ENST00000523629.1	-	4	838	c.384G>T	c.(382-384)agG>agT	p.R128S	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R128S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R139S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	128	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAGTAAGGAACCTTTTCAGCT	0.522000													29	106					7.26314e-15	1.17093e-14	0.007291	1	0
ME3	10873	broad.mit.edu	37	11	86209034	86209034	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:86209034C>T	ENST00000543262.1	-	6	1002	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	ME3_ENST00000323418.6_Missense_Mutation_p.V164M|ME3_ENST00000393324.3_Missense_Mutation_p.V226M|ME3_ENST00000359636.2_Missense_Mutation_p.V226M|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	226					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCCAGCAGCACAGGGAGGCAC	0.647000													60	48					0	0	0.003610	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473269	50473269	+	RNA	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:50473269C>A	ENST00000602139.1	+	0	270									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAACCAGAGTCGAGAGGTGGA	0.592000													12	46					1.15088e-07	1.48709e-07	0.004007	1	0
UBXN7	26043	broad.mit.edu	37	3	196134252	196134252	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:196134252C>T	ENST00000296328.4	-	2	160	c.86G>A	c.(85-87)aGt>aAt	p.S29N	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	29							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTTTCCTACACTTTCACTTGC	0.378000													9	61					0	0	0.004482	0	0
IWS1	55677	broad.mit.edu	37	2	128262314	128262314	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:128262314C>A	ENST00000295321.4	-	3	1424	c.1165G>T	c.(1165-1167)Gta>Tta	p.V389L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.V396L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	389	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCTTCGCTACTTTCTCCTCC	0.398000													66	114					3.12118e-38	5.66741e-38	0.003610	1	0
TRIM42	287015	broad.mit.edu	37	3	140401880	140401880	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:140401880C>T	ENST00000286349.3	+	2	1109	c.918C>T	c.(916-918)aaC>aaT	p.N306N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	306						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAATGACAACAAATTGCTCT	0.562000													24	42					0	0	0.002299	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219069	42219069	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:42219069C>A	ENST00000221992.6	+	3	718	c.604C>A	c.(604-606)Cta>Ata	p.L202I	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L202I|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L202I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	202	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GACCCTCACTCTATTCAATGT	0.522000													89	77					4.78148e-37	8.54721e-37	0.003610	1	0
LAMA1	284217	broad.mit.edu	37	18	6978269	6978269	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:6978269G>C	ENST00000389658.3	-	43	6209	c.6116C>G	c.(6115-6117)aCa>aGa	p.T2039R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2039	Domain II and I.				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)	GCTGGCAGATGTGTTCAGCAG	0.607000													22	110					0	0	0.001882	0	0
MYH13	8735	broad.mit.edu	37	17	10265755	10265755	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:10265755G>A	ENST00000418404.3	-	3	433	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MYH13_ENST00000252172.4_Silent_p.D90D|MYH13_ENST00000570743.1_Silent_p.D90D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	90	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATGGCCATGTCCTCGATCT	0.468000													34	104					0	0	0.003271	0	0
OR1N2	138882	broad.mit.edu	37	9	125316283	125316283	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:125316283C>A	ENST00000373688.2	+	1	893	c.835C>A	c.(835-837)Cct>Act	p.P279T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTATTTACTTCCTCCATCAAC	0.463000													18	51					1.78486e-19	3.00379e-19	0.007413	1	0
NTM	50863	broad.mit.edu	37	11	132016251	132016251	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:132016251G>A	ENST00000374786.1	+	2	722	c.243G>A	c.(241-243)aaG>aaA	p.K81K	NTM_ENST00000427481.2_Silent_p.K72K|NTM_ENST00000374784.1_Silent_p.K81K|NTM_ENST00000539799.1_Silent_p.K81K|NTM_ENST00000374791.3_Silent_p.K81K|NTM_ENST00000425719.2_Silent_p.K81K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	81	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGAATGACAAGTGGTGCCTGG	0.567000													42	39					0	0	0.008740	0	0
USH2A	7399	broad.mit.edu	37	1	215813954	215813954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:215813954G>T	ENST00000366943.2	-	68	15300	c.14914C>A	c.(14914-14916)Cgc>Agc	p.R4972S	USH2A_ENST00000307340.3_Missense_Mutation_p.R4972S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4972	Fibronectin type-III 35.				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)		CTGTACACGCGTCGCCCTCCG	0.542000										HNSCC(13;0.011)			13	38					7.03913e-09	9.6369e-09	0.001368	1	0
CTNNA2	1496	broad.mit.edu	37	2	80773180	80773180	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:80773180C>G	ENST00000466387.1	+	15	2256	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	CTNNA2_ENST00000402739.4_Missense_Mutation_p.S511C|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S190C|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S545C			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	511					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						GACTTCCTCTCTGTCTCAGGT	0.498000													5	12					0	0	0.000602	0	0
AGA	175	broad.mit.edu	37	4	178355600	178355600	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:178355600C>A	ENST00000264595.2	-	7	869	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	248					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCAGTATCGTCAGCATAGGCT	0.463000													9	77					7.48243e-07	9.5256e-07	0.006214	1	0
CRB2	286204	broad.mit.edu	37	9	126125320	126125320	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:126125320G>A	ENST00000373631.3	+	2	272	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	CRB2_ENST00000359999.3_Missense_Mutation_p.G91S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	91	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGATCCCACCGGCTTCCGCTG	0.692000													8	40					0	0	0.004482	0	0
LRRC42	115353	broad.mit.edu	37	1	54427706	54427706	+	Splice_Site	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:54427706G>T	ENST00000371370.3	+	6	1245		c.e6-1		LRRC42_ENST00000319223.4_Splice_Site|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42											breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTGACATCTAGGTAACCCTGA	0.378000													9	24					2.17888e-05	2.60108e-05	0.006214	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702213	27702213	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:27702213G>T	ENST00000438700.3	-	1	1084	c.967C>A	c.(967-969)Cgg>Agg	p.R323R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	323					spermatid development	integral to membrane	hedgehog receptor activity	p.R323W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TACAGCAGCCGCATGGCTTTG	0.562000													59	116					1.93748e-29	3.37591e-29	0.003610	1	0
MT1B	4490	broad.mit.edu	37	16	56685816	56685816	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:56685816C>A	ENST00000334346.2	+	0	6				RP11-249C24.11_ENST00000568608.1_RNA	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B							cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTCCTCCTGCCCTGACTTCTC	0.617000													21	53					1.96292e-10	2.8217e-10	0.010504	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250582	18250582	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:18250582C>G	ENST00000377369.2	+	3	607	c.334C>G	c.(334-336)Cag>Gag	p.Q112E	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q112E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q112E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	112					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGAAGTGGTCCAGAGAGTTTC	0.348000													25	51					0	0	0.003954	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332668	71332668	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:71332668C>T	ENST00000242462.4	-	2	161	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	44					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CTGCGCAGTTCCCCCGTGTGC	0.711000													14	22					0	0	0.002450	0	0
AK5	26289	broad.mit.edu	37	1	77806129	77806129	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:77806129A>G	ENST00000344720.5	+	6	1715	c.689A>G	c.(688-690)aAg>aGg	p.K230R	AK5_ENST00000354567.2_Missense_Mutation_p.K256R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	256					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGATTACTGAAGCGTGCAGAA	0.453000													17	60					0	0	0.007413	0	0
ROBO1	6091	broad.mit.edu	37	3	78666888	78666888	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:78666888C>T	ENST00000436010.2	-	25	5059	c.4062G>A	c.(4060-4062)tcG>tcA	p.S1354S	ROBO1_ENST00000464233.1_Silent_p.S1393S|ROBO1_ENST00000495273.1_Silent_p.S1348S|ROBO1_ENST00000467549.1_Silent_p.S1293S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1393					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGAGCCGTCCGAAGAACTAA	0.577000													4	42					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543054	133543054	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:133543054T>C	ENST00000409261.1	-	14	1703	c.1330A>G	c.(1330-1332)Agc>Ggc	p.S444G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S444G|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	444							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGAGGCTGCTACTTTTAATT	0.448000													8	38					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179604234	179604234	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:179604234T>C	ENST00000589042.1	-	48	13950	c.13726A>G	c.(13726-13728)Aaa>Gaa	p.K4576E	TTN_ENST00000342175.6_Missense_Mutation_p.K4405E|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.K4338E|TTN_ENST00000460472.2_Missense_Mutation_p.K4213E|TTN_ENST00000591111.1_Missense_Mutation_p.K4259E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4259	Ig-like 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)			GACTCCTCTTTTTCCTCTGAT	0.448000													15	68					0	0	0.004990	0	0
CRB1	23418	broad.mit.edu	37	1	197396748	197396748	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:197396748G>T	ENST00000367397.1	+	3	1294	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.V246F|CRB1_ENST00000367399.2_Missense_Mutation_p.V653F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.V696F|CRB1_ENST00000367400.3_Missense_Mutation_p.V765F			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	765	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATATATCCGTGTCTGGCTAGA	0.428000													10	25					9.70103e-10	1.37166e-09	0.008291	1	0
ITGA9	3680	broad.mit.edu	37	3	37512507	37512507	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:37512507G>T	ENST00000264741.5	+	2	451	c.195G>T	c.(193-195)gtG>gtT	p.V65V	ITGA9_ENST00000422441.1_Silent_p.V65V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	65					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGGTCCTTGTGGGCGCACCAA	0.527000													6	50					0.000157383	0.000179792	0.003080	1	0
COL12A1	1303	broad.mit.edu	37	6	75848603	75848603	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:75848603C>T	ENST00000322507.8	-	28	5341	c.5032G>A	c.(5032-5034)Gga>Aga	p.G1678R	COL12A1_ENST00000416123.2_Missense_Mutation_p.G1678R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1678R|COL12A1_ENST00000345356.6_Missense_Mutation_p.G514R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1678	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTGAAGCTCCATGATCCCAA	0.438000													10	20					0	0	0.006214	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	52					0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56457018	56457018	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:56457018C>T	ENST00000370754.5	-	49	12771	c.12772G>A	c.(12772-12774)Gac>Aac	p.D4258N	DST_ENST00000370788.2_Missense_Mutation_p.D1992N|DST_ENST00000421834.2_Missense_Mutation_p.D1992N|DST_ENST00000244364.6_Missense_Mutation_p.D1666N|DST_ENST00000370769.4_Missense_Mutation_p.D4080N|DST_ENST00000361203.3_Missense_Mutation_p.D4078N|DST_ENST00000312431.6_Missense_Mutation_p.D4078N|DST_ENST00000446842.2_Missense_Mutation_p.D3754N			Q03001	DYST_HUMAN	dystonin	4078					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)			TTTTTGGGGTCCACCGCAATA	0.433000													11	10					0	0	0.001855	0	0
IPO8	10526	broad.mit.edu	37	12	30792602	30792602	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:30792602C>A	ENST00000256079.4	-	21	2674	c.2336G>T	c.(2335-2337)cGt>cTt	p.R779L	IPO8_ENST00000544829.1_Missense_Mutation_p.R574L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	779					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACACATAGTACGAAGCTCACT	0.433000													7	54					5.18039e-06	6.40586e-06	0.003080	1	0
HIST1H1T	3010	broad.mit.edu	37	6	26107828	26107828	+	Missense_Mutation	SNP	C	C	T	rs143795730		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:26107828C>T	ENST00000338379.4	-	1	536	c.494G>A	c.(493-495)aGg>aAg	p.R165K		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	165					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TCTCCCGCTCCTAACAGTTTT	0.478000													16	146					0	0	0.004990	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021441	46021441	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:46021441G>T	ENST00000380102.2	+	1	945	c.920G>T	c.(919-921)tGc>tTc	p.C307F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	307	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						ACCACCTCCTGCTGCAGACCC	0.672000													27	100					7.38237e-10	1.04811e-09	0.006320	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43709674	43709674	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:43709674C>A	ENST00000377564.3	+	2	503	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S37Y	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	37	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCACTGGCCTCTGCCTTGCCT	0.488000													7	19					1.06961e-07	1.39252e-07	0.003080	1	0
GLIPR1L1	256710	broad.mit.edu	37	12	75763886	75763886	+	Missense_Mutation	SNP	C	C	T	rs144682920		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:75763886C>T	ENST00000312442.2	+	5	678	c.632C>T	c.(631-633)aCg>aTg	p.T211M	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.T220M	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	220						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CTGAAGCCAACGGGGAGAGCA	0.323000													4	33					0	0	0.000602	0	0
KCNK2	3776	broad.mit.edu	37	1	215342574	215342574	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:215342574G>A	ENST00000444842.2	+	4	658	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	KCNK2_ENST00000391894.2_Missense_Mutation_p.G155S|KCNK2_ENST00000391895.2_Missense_Mutation_p.G166S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	170							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CACAGAAGGCGGCAAAATATT	0.363000													6	44					0	0	0.001168	0	0
TIFAB	497189	broad.mit.edu	37	5	134785609	134785609	+	Silent	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:134785609G>T	ENST00000537858.1	-	2	221	c.21C>A	c.(19-21)gtC>gtA	p.V7V		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	7										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACTCGCAGGACGGTGAGGG	0.602000													16	58					5.3912e-06	6.64273e-06	0.006122	1	0
POU4F2	5458	broad.mit.edu	37	4	147561134	147561134	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr4:147561134C>T	ENST00000281321.3	+	2	652	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	135					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CACCACAGCCCCTTCAAACCG	0.647000													7	26					0	0	0.003080	0	0
ASB2	51676	broad.mit.edu	37	14	94413696	94413696	+	Splice_Site	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:94413696T>C	ENST00000555019.1	-	7	1481	c.1052_splice	c.e7+1	p.R351_splice	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Splice_Site_p.R303_splice	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	303					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGGCTGACCTGTAGTTGCCC	0.642000													20	51					0	0	0.002299	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327901	88327901	+	Silent	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr13:88327901C>T	ENST00000325089.6	+	2	477	c.258C>T	c.(256-258)ctC>ctT	p.L86L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	86						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTACCACCTCTTGTTGTCCG	0.458000													32	79					0	0	0.009535	0	0
PTPN5	84867	broad.mit.edu	37	11	18764013	18764013	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:18764013G>T	ENST00000396170.1	-	7	1689	c.425C>A	c.(424-426)aCc>aAc	p.T142N	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.T174N|PTPN5_ENST00000396171.4_Missense_Mutation_p.T174N|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.T142N|PTPN5_ENST00000396168.1_Missense_Mutation_p.T150N	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	174						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						GGGCAGTGGGGTGGGTGGCTC	0.632000													19	52					1.10923e-09	1.56198e-09	0.002780	1	0
NBAS	51594	broad.mit.edu	37	2	15651350	15651350	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:15651350C>A	ENST00000281513.5	-	10	896	c.871G>T	c.(871-873)Gac>Tac	p.D291Y	NBAS_ENST00000441750.1_Missense_Mutation_p.D291Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	291										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTAACCCCGTCTCCACCATTA	0.413000													32	137					1.62565e-12	2.49266e-12	0.002445	1	0
LIPI	149998	broad.mit.edu	37	21	15538703	15538703	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:15538703C>G	ENST00000344577.2	-	5	801	c.776G>C	c.(775-777)tGt>tCt	p.C259S	LIPI_ENST00000536861.1_Missense_Mutation_p.C238S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	238					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGATTTAGGACAGCCAGGTTG	0.348000													9	61					0	0	0.006214	0	0
ZNF598	90850	broad.mit.edu	37	16	2050050	2050050	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr16:2050050G>A	ENST00000563630.1	-	9	1577	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	ZNF598_ENST00000562103.1_Silent_p.P445P|ZNF598_ENST00000431526.1_Silent_p.P500P			Q86UK7	ZN598_HUMAN	zinc finger protein 598	500						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAAGGCTGGTGGGGGCGGTGC	0.682000													5	16					0	0	0.001168	0	0
TMEM98	26022	broad.mit.edu	37	17	31258565	31258565	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:31258565G>T	ENST00000579849.1	+	3	450	c.19G>T	c.(19-21)Gtt>Ttt	p.V7F	TMEM98_ENST00000394642.3_Missense_Mutation_p.V7F|TMEM98_ENST00000578289.1_Missense_Mutation_p.V7F	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	7						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TGTGGTGATTGTTGCCATAGG	0.572000													9	5					1.58986e-06	1.99456e-06	0.008291	1	0
DST	667	broad.mit.edu	37	6	56482783	56482783	+	Splice_Site	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:56482783C>A	ENST00000370765.6	-	23	6156		c.e23+1		DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin						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)			ACAGAGTATACCTCTAAGGGT	0.378000													16	78					6.31663e-08	8.28607e-08	0.003163	1	0
TAS1R2	80834	broad.mit.edu	37	1	19186125	19186125	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:19186125G>A	ENST00000375371.3	-	1	51	c.30C>T	c.(28-30)tcC>tcT	p.S10S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	10					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGAAGAACAGGGAGGAGATGG	0.587000													6	48					0	0	0.001984	0	0
NUDT8	254552	broad.mit.edu	37	11	67396390	67396390	+	Splice_Site	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:67396390C>T	ENST00000301490.4	-	2	345	c.327_splice	c.e2+1	p.P109_splice	NUDT8_ENST00000376693.2_Splice_Site_p.P109_splice	NM_181843.2	NP_862826.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	109	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						AGTGGCTTACCGGATCATACA	0.662000													18	54					0	0	0.007413	0	0
WSCD2	9671	broad.mit.edu	37	12	108604067	108604067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:108604067G>T	ENST00000332082.4	+	5	1485	c.667G>T	c.(667-669)Gag>Tag	p.E223*	WSCD2_ENST00000547525.1_Nonsense_Mutation_p.E223*|WSCD2_ENST00000261400.3_Nonsense_Mutation_p.E223*|WSCD2_ENST00000549903.1_Nonsense_Mutation_p.E223*			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	223						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTGGCCCAGGAGTCGGCCCG	0.677000													4	6					0.00024832	0.000281811	0.009096	1	0
TBX18	9096	broad.mit.edu	37	6	85453977	85453977	+	Splice_Site	SNP	A	A	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:85453977A>C	ENST00000369663.5	-	6	1342		c.e6+1		TBX18_ENST00000606784.1_Splice_Site|TBX18_ENST00000606521.1_Splice_Site	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACTAAGGCCCACCTGTTGCGC	0.338000													13	4					0	0	0.002450	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260330	30260330	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:30260330G>T	ENST00000378982.2	+	1	274	c.78G>T	c.(76-78)aaG>aaT	p.K26N		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	26										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGGATCTCAAGGTTGGTCAGC	0.562000													16	4					6.31663e-08	8.28607e-08	0.003163	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629050	1629050	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:1629050C>A	ENST00000399685.1	-	1	643	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	189	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gggtttgcagcagctggactg	0.627000													110	226					7.81258e-50	1.42611e-49	0.003610	1	0
WDR16	146845	broad.mit.edu	37	17	9489143	9489143	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:9489143C>T	ENST00000352665.5	+	2	193	c.124C>T	c.(124-126)Cct>Tct	p.P42S	WDR16_ENST00000299764.5_Missense_Mutation_p.P52S|WDR16_ENST00000396219.3_Intron	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	42						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TATGATTTATCCTCTTGGTTG	0.463000													21	82					0	0	0.010504	0	0
ITGB1	3688	broad.mit.edu	37	10	33217116	33217116	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:33217116C>A	ENST00000396033.2	-	5	588	c.453G>T	c.(451-453)ctG>ctT	p.L151L	ITGB1_ENST00000423113.1_Silent_p.L151L|ITGB1_ENST00000374956.4_Silent_p.L151L|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000302278.3_Silent_p.L151L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	151	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGAGTAAGACAGGTCCATAA	0.378000													15	102					0.000308642	0.00034912	0.003163	1	0
OR51A4	401666	broad.mit.edu	37	11	4967817	4967817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:4967817T>A	ENST00000380373.2	-	1	539	c.514A>T	c.(514-516)Aag>Tag	p.K172*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTTTTTCTTGCAATATCTC	0.413000													24	223					0	0	0.002780	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078617	107078617	+	RNA	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:107078617G>T	ENST00000390628.2	-	0	167																											GACCTTCACTGAGGTCCCAGG	0.562000													31	63					1.39806e-14	2.22272e-14	0.008361	1	0
STK11	6794	broad.mit.edu	37	19	1220486	1220486	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:1220486C>A	ENST00000326873.7	+	4	1752	c.579C>A	c.(577-579)tcC>tcA	p.S193S		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	193	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)|p.D194fs*93(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAATCTCCGACCTGGGCG	0.677000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	6					6.5536e-12	9.87333e-12	0.003080	1	0
IQSEC3	440073	broad.mit.edu	37	12	283807	283807	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:283807G>T	ENST00000538872.1	+	14	3275	c.3157G>T	c.(3157-3159)Ggg>Tgg	p.G1053W	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G1053W|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1053					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCACAACTCCGGGCTGGGGGC	0.617000													14	12					4.14922e-12	6.30608e-12	0.004007	1	0
SLC4A1	6521	broad.mit.edu	37	17	42336641	42336641	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:42336641C>A	ENST00000262418.6	-	9	921	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	256					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCAGCTCCACCGCCTCCAGC	0.652000													16	29					0.000422831	0.000476722	0.004007	1	0
LRP1B	53353	broad.mit.edu	37	2	141457912	141457912	+	Missense_Mutation	SNP	T	T	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:141457912T>C	ENST00000389484.3	-	41	7677	c.6706A>G	c.(6706-6708)Aaa>Gaa	p.K2236E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2236					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)		TTGGTACCTTTTCTTCTTTGA	0.343000										TSP Lung(27;0.18)			14	72					0	0	0.001855	0	0
CDC25C	995	broad.mit.edu	37	5	137627777	137627777	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:137627777G>T	ENST00000323760.6	-	8	922	c.644C>A	c.(643-645)cCg>cAg	p.P215Q	CDC25C_ENST00000357274.3_Missense_Mutation_p.P172Q|CDC25C_ENST00000514555.1_Missense_Mutation_p.P185Q|CDC25C_ENST00000513970.1_Missense_Mutation_p.P215Q|CDC25C_ENST00000356505.3_Missense_Mutation_p.P185Q|CDC25C_ENST00000415130.2_Missense_Mutation_p.P142Q|CDC25C_ENST00000348983.3_Missense_Mutation_p.P142Q	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	215					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCATCGACGGGGAGCGATA	0.443000													22	87					2.70639e-06	3.38299e-06	0.002299	1	0
GALNT3	2591	broad.mit.edu	37	2	166626801	166626801	+	Missense_Mutation	SNP	T	T	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:166626801T>A	ENST00000392701.3	-	2	1185	c.410A>T	c.(409-411)gAg>gTg	p.E137V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	137					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTCCTTTTGCTCTTCAACACT	0.463000													14	66					0	0	0.001855	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227348297	227348297	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:227348297G>C	ENST00000366769.3	-	6	1931	c.640C>G	c.(640-642)Cat>Gat	p.H214D	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.H214D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.H214D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.H214D	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	214	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.H214Y(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACCGAATATGTCCATTCATA	0.299000													71	56					0	0	0.003610	0	0
CDH2	1000	broad.mit.edu	37	18	25616436	25616436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:25616436G>T	ENST00000399380.3	-	1	113	c.77C>A	c.(76-78)tCa>tAa	p.S26*	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	57					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTTACCTGAAAGGAAAAC	0.308000													27	102					7.41945e-09	1.01174e-08	0.005443	1	0
FLT1	2321	broad.mit.edu	37	13	29008234	29008234	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr13:29008234C>A	ENST00000282397.4	-	5	888	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	FLT1_ENST00000541932.1_Missense_Mutation_p.G213W|FLT1_ENST00000539099.1_Missense_Mutation_p.G213W	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	213	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACAAATGCCCATTGACTGTT	0.393000													16	20					4.7546e-09	6.53521e-09	0.004007	1	0
OR52N4	390072	broad.mit.edu	37	11	5776344	5776344	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:5776344A>G	ENST00000317254.3	+	1	422	c.374A>G	c.(373-375)tAt>tGt	p.Y125C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTGGATCGCTATGTGGCCATC	0.488000													43	84					0	0	0.002522	0	0
RYR3	6263	broad.mit.edu	37	15	34016317	34016317	+	Silent	SNP	A	A	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:34016317A>T	ENST00000389232.4	+	45	6922	c.6852A>T	c.(6850-6852)gcA>gcT	p.A2284A	RYR3_ENST00000415757.3_Silent_p.A2284A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2284	4 X approximate repeats.				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)		TGGGCAATGCAATTATGTCAT	0.498000													10	11					0	0	0.008291	0	0
NYAP1	222950	broad.mit.edu	37	7	100084640	100084640	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr7:100084640G>A	ENST00000423930.1	+	3	424	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	NYAP1_ENST00000300179.2_Missense_Mutation_p.G89S|NYAP1_ENST00000454988.1_Missense_Mutation_p.G32S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	89																	CCACTCGGTGGGCAGCATGGA	0.711000													8	18					0	0	0.006214	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156941609	156941609	+	Splice_Site	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:156941609C>T	ENST00000368194.3	-	8	1622		c.e8-1		ARHGEF11_ENST00000361409.2_Intron	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACAGATACGCTAGGGATGGG	0.562000													13	27					0	0	0.003163	0	0
TBX15	6913	broad.mit.edu	37	1	119427921	119427921	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:119427921C>A	ENST00000369429.3	-	8	1252	c.1243G>T	c.(1243-1245)Ggg>Tgg	p.G415W	TBX15_ENST00000207157.3_Missense_Mutation_p.G309W			Q96SF7	TBX15_HUMAN	T-box 15	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCACTCAGCCCTGGGTAGCTC	0.537000													19	32					1.56452e-12	2.40965e-12	0.007413	1	0
TBC1D2	55357	broad.mit.edu	37	9	100971119	100971119	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:100971119C>T	ENST00000375066.5	-	9	2072	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	TBC1D2_ENST00000375064.1_Missense_Mutation_p.A661T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A443T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.A201T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	661	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGCTCGCGGGCCTGGCCCCGG	0.652000													9	37					0	0	0.006214	0	0
CCDC155	147872	broad.mit.edu	37	19	49920437	49920437	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:49920437G>C	ENST00000447857.3	+	19	1666	c.1461G>C	c.(1459-1461)caG>caC	p.Q487H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	487						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGAACTCCAGCAAGCCCTGG	0.647000													14	8					0	0	0.002450	0	0
NOVA1	4857	broad.mit.edu	37	14	26917570	26917570	+	Silent	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:26917570G>A	ENST00000539517.2	-	5	1436	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	NOVA1_ENST00000267422.7_Silent_p.G251G|NOVA1_ENST00000465357.2_Silent_p.G349G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	376	Ala-rich.				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)		CAGCTGTGCTGCCACTGGCTG	0.577000													7	27					0	0	0.003080	0	0
USP36	57602	broad.mit.edu	37	17	76831489	76831489	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:76831489C>A	ENST00000312010.6	-	4	672	c.348G>T	c.(346-348)cgG>cgT	p.R116R	USP36_ENST00000542802.2_Silent_p.R116R|USP36_ENST00000589424.1_Silent_p.R116R|USP36_ENST00000590546.2_Silent_p.R116R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	116					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCGGAAGACCCGCTCCCACC	0.597000													11	34					3.86212e-05	4.47125e-05	0.008291	1	0
OR8K1	390157	broad.mit.edu	37	11	56113889	56113889	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:56113889C>A	ENST00000279783.2	+	1	469	c.375C>A	c.(373-375)gcC>gcA	p.A125A		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAGCAATGGCCTATGATCGCT	0.403000										HNSCC(65;0.19)			46	116					5.2432e-18	8.69666e-18	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237995907	237995907	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:237995907G>T	ENST00000366574.2	+	105	15181	c.14864G>T	c.(14863-14865)gGg>gTg	p.G4955V	RYR2_ENST00000360064.6_Missense_Mutation_p.G4961V|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G4939V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4955					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCCAGCAGGGGATTGCTTC	0.413000													6	16					0.00116845	0.00129203	0.001168	1	0
KCNH1	3756	broad.mit.edu	37	1	210857201	210857201	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:210857201C>T	ENST00000367007.4	-	11	2480	c.2311G>A	c.(2311-2313)Gta>Ata	p.V771I	KCNH1_ENST00000271751.4_Missense_Mutation_p.V798I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	798					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGAAGGATACGGGCGTGGCA	0.662000													12	123					0	0	0.001368	0	0
OBSCN	84033	broad.mit.edu	37	1	228487741	228487741	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:228487741G>T	ENST00000570156.2	+	51	13707	c.13633G>T	c.(13633-13635)Ggg>Tgg	p.G4545W	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1235W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3588	Fibronectin type-III 3.				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)				GAAGCAGGATGGGACCAGTTG	0.562000													11	93					0.000978159	0.00109212	0.000978	1	0
ZSWIM1	90204	broad.mit.edu	37	20	44511423	44511423	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:44511423G>T	ENST00000372523.1	+	2	287	c.192G>T	c.(190-192)caG>caT	p.Q64H	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.Q64H	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	64							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCAACTACCAGAGCTGCTTTA	0.473000													16	26					3.52763e-06	4.37782e-06	0.004990	1	0
VAMP7	6845	broad.mit.edu	37	X	155171642	155171642	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chrX:155171642G>C	ENST00000262640.6	+	7	705	c.622G>C	c.(622-624)Gat>Cat	p.D208H	VAMP7_ENST00000460621.1_3'UTR|VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTAACCAAGGATATGAGAGA	0.408000													5	28					0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130289965	130289965	+	Missense_Mutation	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:130289965C>A	ENST00000358511.6	+	6	2736	c.2705C>A	c.(2704-2706)gCc>gAc	p.A902D	COL6A6_ENST00000453409.2_Missense_Mutation_p.A902D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	902	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				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						TTCACTGAAGCCCGGGGCAGC	0.542000													5	23					1.23904e-05	1.49465e-05	0.000602	1	0
KIAA1024	23251	broad.mit.edu	37	15	79760677	79760677	+	Missense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:79760677G>T	ENST00000305428.3	+	4	2777	c.2702G>T	c.(2701-2703)tGc>tTc	p.C901F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	901						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCTGCGGCATGCACCGTCATC	0.458000													4	19					0.00909568	0.00968521	0.009096	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33549399	33549399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr5:33549399G>T	ENST00000504830.1	-	21	4550	c.4215C>A	c.(4213-4215)tgC>tgA	p.C1405*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C1320*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1405	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGGAACTGGCAGTGAAATG	0.612000										HNSCC(64;0.19)			69	96					1.55545e-33	2.75194e-33	0.003610	1	0
TNFAIP2	7127	broad.mit.edu	37	14	103601623	103601623	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:103601623C>T	ENST00000560869.1	+	12	2530	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R631W|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.R114W|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R300W			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	631					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAAGCGCATCCGGAGCATCTT	0.582000													19	287					0	0	0.007413	0	0
MAP4K1	11184	broad.mit.edu	37	19	39104688	39104688	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr19:39104688C>T	ENST00000591517.1	-	7	483	c.455G>A	c.(454-456)aGa>aAa	p.R152K	MAP4K1_ENST00000586296.1_Missense_Mutation_p.R152K|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R152K|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R148K	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	152	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCACCCAATCTGACCTCCCC	0.607000													5	101					0	0	0.000602	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846204	47846204	+	Silent	SNP	C	C	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr6:47846204C>A	ENST00000339488.4	-	3	2409	c.2376G>T	c.(2374-2376)ggG>ggT	p.G792G		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	792						integral to membrane	hedgehog receptor activity										GTGTGCAACCCCCAGTGAGCA	0.428000													5	61					1.23904e-05	1.49465e-05	0.000602	1	0
COPB2	9276	broad.mit.edu	37	3	139093397	139093397	+	Missense_Mutation	SNP	C	C	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr3:139093397C>T	ENST00000333188.5	-	7	866	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	COPB2_ENST00000507777.1_Missense_Mutation_p.A200T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	229					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACATTTTGGGCATGTCCTTCC	0.378000													7	57					0	0	0.001984	0	0
LCE1B	353132	broad.mit.edu	37	1	152785055	152785055	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:152785055A>G	ENST00000360090.3	+	1	609	c.133A>G	c.(133-135)Agt>Ggt	p.S45G		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	45					keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTGCTGCAGTGTCAGCTC	0.647000													29	198					0	0	0.008361	0	0
SERINC2	347735	broad.mit.edu	37	1	31898638	31898638	+	Missense_Mutation	SNP	G	G	C			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:31898638G>C	ENST00000373710.1	+	6	788	c.515G>C	c.(514-516)gGc>gCc	p.G172A	SERINC2_ENST00000373709.3_Missense_Mutation_p.G163A|SERINC2_ENST00000536859.1_Missense_Mutation_p.G167A|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G167A	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	163						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TTCTACTTCGGCGTCGTGGGC	0.602000													35	114					0	0	0.003755	0	0
OR1K1	392392	broad.mit.edu	37	9	125562914	125562914	+	Silent	SNP	T	T	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:125562914T>G	ENST00000277309.2	+	1	545	c.513T>G	c.(511-513)gcT>gcG	p.A171A		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	171					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						CCTTCTGTGCTTCCCACCAAG	0.607000													28	63					0	0	0.008361	0	0
ZNF133	7692	broad.mit.edu	37	20	18296354	18296354	+	Missense_Mutation	SNP	A	A	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr20:18296354A>G	ENST00000377671.3	+	7	1415	c.856A>G	c.(856-858)Ata>Gta	p.I286V	ZNF133_ENST00000535822.1_Missense_Mutation_p.I192V|ZNF133_ENST00000402618.2_Missense_Mutation_p.I224V|ZNF133_ENST00000538547.1_Missense_Mutation_p.I192V|ZNF133_ENST00000316358.4_Missense_Mutation_p.I287V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.I287V|ZNF133_ENST00000396026.3_Missense_Mutation_p.I290V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	287						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AACGCTAATCATACACGAACG	0.532000													10	55					0	0	0.006214	0	0
HSPA13	6782	broad.mit.edu	37	21	15753847	15753847	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr21:15753847G>A	ENST00000285667.3	-	2	110	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	15						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCCAACAGGAGAGTCAAAACA	0.373000													8	18					0	0	0.006214	0	0
CHPF	79586	broad.mit.edu	37	2	220408109	220408109	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:220408109G>A	ENST00000243776.6	-	1	400	c.152C>T	c.(151-153)cCg>cTg	p.P51L	CHPF_ENST00000373891.2_Missense_Mutation_p.P51L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	51						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCGCGCGGCGGCAGCTCAGA	0.741000													3	13					0	0	0.009096	0	0
MCAM	4162	broad.mit.edu	37	11	119181596	119181596	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr11:119181596G>A	ENST00000264036.4	-	14	1677	c.1663C>T	c.(1663-1665)Ccg>Tcg	p.P555S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	555					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGGCTCTCCGGCTCCGGCAGC	0.622000													14	112					0	0	0.004007	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411817	114411817	+	Missense_Mutation	SNP	G	G	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr9:114411817G>A	ENST00000313525.3	+	3	630	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	192					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						TACAGAGATTGCCAAGCAGCA	0.413000													5	12					0	0	0.000602	0	0
MED13L	23389	broad.mit.edu	37	12	116452947	116452947	+	Missense_Mutation	SNP	C	C	G			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:116452947C>G	ENST00000281928.3	-	8	1348	c.1142G>C	c.(1141-1143)tGg>tCg	p.W381S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	381					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATTCCTTCCAGACTCGATG	0.438000													8	61					0	0	0.003080	0	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													3	6	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721696	17721696	+	RNA	DEL	T	T	-	rs35197313		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr1:17721696delT	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTTTTCttgttttttttttt	0.483													6	11	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168106663	168106664	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:168106663_168106664delAC	ENST00000409195.1	+	9	8850_8851	c.8761_8762delAC	c.(8761-8763)afs	p.T2921fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.T2921fs|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.T2699fs|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2746					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						GCAAGAGATTACACAGAACAAA	0.381													9	53	---	---	---	---					
ZSWIM2	151112	broad.mit.edu	37	2	187692746	187692746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr2:187692746delC	ENST00000295131.2	-	9	1906	c.1867delG	c.(1867-1869)agfs	p.E623fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	623					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAAGATAGCTCAGTACTTTTT	0.279													8	24	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	124975538	124975538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr8:124975538delG	ENST00000522917.1	+	3	303	c.97delG	c.(97-99)cafs	p.A33fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.A33fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	33						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGACACTGAAGCACTGCAGGA	0.493													17	110	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75506613	75506614	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:75506613_75506614insA	ENST00000339365.2	+	3	185_186	c.23_24insA	c.(22-24)cccfs	p.P8fs	SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Frame_Shift_Ins_p.P8fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	8					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGTCAGTTCCACCTGTGCCAC	0.495													18	72	---	---	---	---					
ZNF511	118472	broad.mit.edu	37	10	135125341	135125342	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr10:135125341_135125342insAT	ENST00000359035.3	+	5	679_680	c.676_677insAT	c.(676-678)tagfs	p.*226fs	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Frame_Shift_Ins_p.*161fs|ZNF511_ENST00000361518.5_Frame_Shift_Ins_p.*226fs			Q8NB15	ZN511_HUMAN	zinc finger protein 511	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GATCTACAGACATAGGTCAGTG	0.574													26	111	---	---	---	---					
PRB3	5544	broad.mit.edu	37	12	11420746	11420746	+	RNA	DEL	G	G	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:11420746delG	ENST00000381842.3	-	0	474				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCCTCCTTGTGGGGGTGGTCC	0.652													8	150	---	---	---	---					
PRB3	5544	broad.mit.edu	37	12	11420809	11420809	+	RNA	DEL	G	G	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:11420809delG	ENST00000381842.3	-	0	411				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCCTCCTTGTGGGGGTGGTCC	0.647													32	243	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													2	4	---	---	---	---					
SNW1	22938	broad.mit.edu	37	14	78205113	78205127	+	Splice_Site	DEL	ATTCATACCGGATAT	ATTCATACCGGATAT	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr14:78205113_78205127delATTCATACCGGATAT	ENST00000261531.7	-	5	589_596	c.533_splice	c.e5+1	p.176_splice	SNW1_ENST00000555761.1_Splice_Site_p.176_splice|SNW1_ENST00000554775.1_Splice_Site_p.14_splice|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	176	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCTAGGCATGATTCATACCGGATATACTGAGCAGG	0.423													9	34	---	---	---	---					
RHCG	51458	broad.mit.edu	37	15	90023607	90023608	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr15:90023607_90023608insT	ENST00000268122.4	-	4	622_623	c.554_555insA	c.(553-555)cacfs	p.H185fs	RHCG_ENST00000544600.1_Frame_Shift_Ins_p.H185fs	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	185					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CGCCAAATGTGTGGATGGTCAT	0.579													21	100	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78291021	78291021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr17:78291021delG	ENST00000582970.1	+	16	2988	c.2845delG	c.(2845-2847)cgfs	p.A949fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.A998fs|RNF213_ENST00000319921.4_Frame_Shift_Del_p.A949fs|RNF213_ENST00000456466.1_Frame_Shift_Del_p.A949fs	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	949										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAATTCCCCGCGGAGCATGG	0.562													15	61	---	---	---	---					
LOC644669	644669	broad.mit.edu	37	18	15322312	15322313	+	RNA	INS	-	-	ATT			TCGA-50-7109-01A-11D-2036-08	TCGA-50-7109-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5efb21c5-9c0b-4442-b0cb-3c30b0869dba	49a93a1d-94d7-47f8-8e42-1585bde5d3ac	g.chr18:15322312_15322313insATT	ENST00000455308.2	-	0	594					NR_027417.1																						GAGATAACTTCATTATTAGGAA	0.347													10	39	---	---	---	---					
