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
SPATA7	55812	broad.mit.edu	37	14	88904536	88904536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:88904536C>T	ENST00000556553.1	+	12	2033	c.1474C>T	c.(1474-1476)Cat>Tat	p.H492Y	SPATA7_ENST00000356583.5_Missense_Mutation_p.H492Y|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000393545.4_Missense_Mutation_p.H524Y			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	524					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GGATGAAAATCATCCAAGTAT	0.333000													16	70					0	0	0.004990	0	0
GRIA2	2891	broad.mit.edu	37	4	158254053	158254053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:158254053C>T	ENST00000296526.7	+	7	1290	c.965C>T	c.(964-966)tCc>tTc	p.S322F	GRIA2_ENST00000449365.1_Missense_Mutation_p.S275F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S275F|GRIA2_ENST00000393815.2_Missense_Mutation_p.S275F|GRIA2_ENST00000264426.9_Missense_Mutation_p.S322F	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	322					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTGAAATCTCCCGAAGGGGG	0.488000													39	45					0	0	0.006230	0	0
ZNF827	152485	broad.mit.edu	37	4	146823350	146823350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:146823350G>A	ENST00000508784.1	-	2	1288	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P354L			Q17R98	ZN827_HUMAN	zinc finger protein 827	354	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTTCCCTTAGGAACTGGGAG	0.448000													5	38					0	0	0.000602	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752003	140752003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:140752003C>T	ENST00000576222.1	+	1	2173	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCACTCCCTCTGACCCT	0.567000													26	60					0	0	0.008361	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:27999214C>T	ENST00000441525.1	-	1	352	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	80	Glu-rich.							p.E80K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000													31	79					0	0	0.002445	0	0
PTPRU	10076	broad.mit.edu	37	1	29647298	29647298	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:29647298C>T	ENST00000323874.8	+	27	3917	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	PTPRU_ENST00000460170.2_Silent_p.I1269I|PTPRU_ENST00000428026.2_Silent_p.I1260I|PTPRU_ENST00000345512.3_Silent_p.I1273I|PTPRU_ENST00000373779.3_Silent_p.I1263I|PTPRU_ENST00000356870.3_Silent_p.I1269I			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1273	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCACCTCCATCGTCATGCTCA	0.637000													43	35					0	0	0.002852	0	0
FAT4	79633	broad.mit.edu	37	4	126373736	126373736	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:126373736G>A	ENST00000394329.3	+	9	11578	c.11565G>A	c.(11563-11565)gcG>gcA	p.A3855A	FAT4_ENST00000335110.5_Silent_p.A2153A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGATATGCGGGTAGCTGGT	0.473000													5	44					0	0	0.001984	0	0
MYO3B	140469	broad.mit.edu	37	2	171323157	171323157	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:171323157G>C	ENST00000334231.6	+	25	2977	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q	MYO3B_ENST00000408978.4_Missense_Mutation_p.E984Q|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.E984Q			Q8WXR4	MYO3B_HUMAN	myosin IIIB	984	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						AGGGATTCTGGAGACAGTCAG	0.537000													19	79					0	0	0.001523	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518202	161518202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:161518202G>A	ENST00000392142.4	+	16	3666	c.3518G>A	c.(3517-3519)gGa>gAa	p.G1173E	MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1169E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1173E|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1169E	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1173					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACTCCAGAGGGATTCAGGTAT	0.488000													23	15					0	0	0.002299	0	0
CCR7	1236	broad.mit.edu	37	17	38711075	38711075	+	Silent	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:38711075G>T	ENST00000246657.2	-	3	1118	c.1056C>A	c.(1054-1056)ctC>ctA	p.L352L	CCR7_ENST00000579344.1_Silent_p.L346L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	352					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACCACTGCCGGAGCTGCTCCT	0.607000													23	58					2.39556e-15	4.4516e-15	0.002780	1	0
ITGA11	22801	broad.mit.edu	37	15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:68643096C>T	ENST00000423218.2	-	9	1014	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502000													28	53					0	0	0.008361	0	0
YEATS2	55689	broad.mit.edu	37	3	183471995	183471995	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:183471995T>C	ENST00000305135.5	+	11	1427	c.1232T>C	c.(1231-1233)aTg>aCg	p.M411T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	411					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCACCAAAATGACTACATCC	0.438000													36	72					0	0	0.003271	0	0
CCDC13	152206	broad.mit.edu	37	3	42794129	42794129	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:42794129A>T	ENST00000310232.6	-	4	534	c.451T>A	c.(451-453)Tca>Aca	p.S151T	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	151										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCACCCTCTGATTCTGCCATC	0.547000													25	68					0	0	0.004656	0	0
PLCB4	5332	broad.mit.edu	37	20	9453991	9453991	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:9453991C>T	ENST00000378501.2	+	34	3453	c.3438C>T	c.(3436-3438)ttC>ttT	p.F1146F	PLCB4_ENST00000334005.3_Silent_p.F1146F|PLCB4_ENST00000278655.4_Silent_p.F1146F|PLCB4_ENST00000414679.2_Silent_p.F1158F|PLCB4_ENST00000378493.1_Silent_p.F1146F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.F1158F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1146					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCTAGAATTCCTAGAGAAAC	0.383000													27	12					0	0	0.001786	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A	rs139541363	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000													5	46					0	0	0.003080	0	0
RAD9B	144715	broad.mit.edu	37	12	110960065	110960065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:110960065G>A	ENST00000409246.1	+	10	1083	c.758G>A	c.(757-759)aGg>aAg	p.R253K	RAD9B_ENST00000409778.3_Missense_Mutation_p.R256K|RAD9B_ENST00000409425.1_Missense_Mutation_p.R253K|RAD9B_ENST00000409300.1_Missense_Mutation_p.R325K|RAD9B_ENST00000392672.4_Missense_Mutation_p.R325K			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	322					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCACCAAGAAGGCTTTATCCT	0.423000													8	9					0	0	0.003080	0	0
ITIH3	3699	broad.mit.edu	37	3	52835084	52835084	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:52835084C>T	ENST00000449956.2	+	11	1311	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ITIH3_ENST00000416872.2_Silent_p.F435F	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	435	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTATAACTTCCTGGAGAACA	0.498000													30	48					0	0	0.008361	0	0
FAM111A	63901	broad.mit.edu	37	11	58919259	58919259	+	Silent	SNP	C	C	T	rs148380599		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:58919259C>T	ENST00000528737.1	+	5	2936	c.118C>T	c.(118-120)Cta>Tta	p.L40L	FAM111A_ENST00000533703.1_Silent_p.L40L|FAM111A_ENST00000531147.1_Silent_p.L40L|FAM111A_ENST00000361723.3_Silent_p.L40L|FAM111A_ENST00000420244.1_Silent_p.L40L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	40					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGTACTTCTCTAATGAGGAT	0.393000													28	77					0	0	0.001786	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366031	47366031	+	RNA	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:47366031G>A	ENST00000505841.1	-	0	78					NR_002788.2																						ACCTGAAACAGCAGCAGAGAC	0.557000													22	30					0	0	0.002780	0	0
HDAC9	9734	broad.mit.edu	37	7	18706067	18706067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:18706067G>A	ENST00000406451.3	+	12	1840	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	HDAC9_ENST00000417496.2_Missense_Mutation_p.E562K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E567K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E520K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E551K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E564K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E564K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E523K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E536K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E487K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	564					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)	CCAGGAAATGGAATCTGGGGA	0.453000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	0.004482	0	0
CDK20	23552	broad.mit.edu	37	9	90586095	90586095	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:90586095G>A	ENST00000375883.3	-	3	651	c.345C>T	c.(343-345)gtC>gtT	p.V115V	CDK20_ENST00000605159.1_Silent_p.V115V|CDK20_ENST00000336654.5_Silent_p.V128V|CDK20_ENST00000325303.8_Silent_p.V115V|CDK20_ENST00000375871.4_Silent_p.V115V	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	115	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGCAGAAGGCGACACCCTTGA	0.612000													30	11					0	0	0.002445	0	0
KIF13A	63971	broad.mit.edu	37	6	17764704	17764704	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:17764704G>A	ENST00000378814.5	-	37	4910	c.4911C>T	c.(4909-4911)atC>atT	p.I1637I	KIF13A_ENST00000259711.6_Silent_p.I1685I|KIF13A_ENST00000378816.5_Silent_p.I1650I|KIF13A_ENST00000378843.2_Silent_p.I1637I|KIF13A_ENST00000378826.2_Silent_p.I1650I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1685					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTTCTCAGGGATGCTCTGGG	0.502000													20	50					0	0	0.001523	0	0
SV2A	9900	broad.mit.edu	37	1	149885219	149885219	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:149885219G>A	ENST00000369146.3	-	2	664	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SV2A_ENST00000369145.1_Silent_p.F58F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	58					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGAGCAGGGAAGTCATCAT	0.547000													71	55					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117171039	117171039	+	Silent	SNP	G	G	A	rs1800077	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:117171039G>A	ENST00000003084.6	+	4	492	c.360G>A	c.(358-360)gcG>gcA	p.A120A	CFTR_ENST00000454343.1_Silent_p.A120A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	120	ABC transmembrane type-1 1.		A -> T (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTCTATCGCGATTTATCTAG	0.458000									Cystic Fibrosis				16	30					0	0	0.006122	0	0
THRAP3	9967	broad.mit.edu	37	1	36755032	36755032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:36755032G>A	ENST00000354618.5	+	5	1636	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.W471*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	471					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCAGGCAAATGGGAGGGCCTG	0.463000			T	USP6	aneurysmal bone cysts								27	78					0	0	0.005443	0	0
SLC51A	200931	broad.mit.edu	37	3	195959976	195959976	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:195959976C>A	ENST00000296327.5	+	9	1138	c.929C>A	c.(928-930)aCt>aAt	p.T310N	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TTTCTAATGACTGTGCTGACA	0.448000													46	89					7.88023e-25	1.48186e-24	0.003610	1	0
DMRT1	1761	broad.mit.edu	37	9	894120	894120	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:894120G>A	ENST00000382276.3	+	3	896	c.747G>A	c.(745-747)ggG>ggA	p.G249G	DMRT1_ENST00000569227.1_Silent_p.G91G	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	249					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ATCCCCTCGGGGGATCCCCTG	0.532000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	21					0	0	0.003610	0	0
RP9	6100	broad.mit.edu	37	7	33140157	33140157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:33140157G>A	ENST00000297157.3	-	2	186	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	57	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATAAGCCCAGGAGGAGGTTTT	0.343000													6	39					0	0	0.001168	0	0
PRB3	5544	broad.mit.edu	37	12	11420585	11420585	+	RNA	SNP	G	G	A	rs71057716		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:11420585G>A	ENST00000381842.3	-	0	635				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637000													47	275					0	0	0.003610	0	0
COL25A1	84570	broad.mit.edu	37	4	109784498	109784498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:109784498C>T	ENST00000399132.1	-	21	1659	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	COL25A1_ENST00000399126.1_Missense_Mutation_p.E377K|COL25A1_ENST00000399127.1_Missense_Mutation_p.E373K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	377	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCTCCAGGTTCCCCTCGCTCA	0.488000													23	19					0	0	0.005443	0	0
PSD3	23362	broad.mit.edu	37	8	18729960	18729960	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:18729960C>T	ENST00000440756.2	-	3	516	c.414G>A	c.(412-414)ctG>ctA	p.L138L	PSD3_ENST00000327040.8_Silent_p.L138L|PSD3_ENST00000523619.1_Silent_p.L73L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	138					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGTGGCTTTCAGAGCTGAAA	0.438000													59	102					0	0	0.003610	0	0
RORA	6095	broad.mit.edu	37	15	60907219	60907219	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:60907219T>C	ENST00000309157.4	-	2	214	c.145A>G	c.(145-147)Acc>Gcc	p.T49A	RORA_ENST00000261523.5_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	49	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCTACAGGTTGAAGAGCTG	0.507000													17	36					0	0	0.001523	0	0
TET2	54790	broad.mit.edu	37	4	106157388	106157388	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:106157388C>T	ENST00000513237.1	+	3	3149	c.2352C>T	c.(2350-2352)ccC>ccT	p.P784P	TET2_ENST00000380013.4_Silent_p.P763P|TET2_ENST00000305737.2_Silent_p.P763P|TET2_ENST00000545826.1_Silent_p.P763P|TET2_ENST00000394764.1_Silent_p.P763P|TET2_ENST00000540549.1_Silent_p.P763P|TET2_ENST00000413648.2_Silent_p.P763P			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	763	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCCTCACCCCCAAAGCAACA	0.393000			"""Mis N, F"""		MDS								13	24					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9090527	9090527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:9090527C>T	ENST00000397910.4	-	1	1491	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	430	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTTCCTTCTGTTTCCTTT	0.498000													39	67					0	0	0.005524	0	0
CAPS2	84698	broad.mit.edu	37	12	75685567	75685567	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:75685567G>A	ENST00000393284.3	-	13	1159	c.558C>T	c.(556-558)atC>atT	p.I186I	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409799.1_Silent_p.I336I|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Silent_p.I418I|CAPS2_ENST00000442339.2_Silent_p.I8I			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	418				D -> G (in Ref. 4; AAN76511).			calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTCTTGAATGATTATATCAT	0.313000													22	21					0	0	0.006320	0	0
FAM227B	196951	broad.mit.edu	37	15	49800546	49800546	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:49800546C>T	ENST00000299338.6	-	11	1178		c.e11-1		FAM227B_ENST00000561064.1_Splice_Site	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGTTTTAAACCTGTTAATATA	0.299000													15	43					0	0	0.003163	0	0
SPNS3	201305	broad.mit.edu	37	17	4356416	4356416	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:4356416C>T	ENST00000355530.2	+	8	1309	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.L216L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	343					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGAGCCCCTCATCTGCGCCT	0.607000													47	95					0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243736	1243736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:1243736C>T	ENST00000324642.3	+	9	1321	c.1198C>T	c.(1198-1200)Cct>Tct	p.P400S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.P329S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	400					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCGGGGGCTCCTGTGTGGGC	0.662000													30	49					0	0	0.001786	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380200	109380200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:109380200G>A	ENST00000370001.3	-	7	1776	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	AKNAD1_ENST00000369995.3_Missense_Mutation_p.A503V|AKNAD1_ENST00000357393.4_Missense_Mutation_p.A210V|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A503V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	503										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAAGGTGGAGGCCAAGTCATC	0.403000													30	56					0	0	0.005524	0	0
BCOR	54880	broad.mit.edu	37	X	39923689	39923689	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:39923689C>T	ENST00000342274.4	-	7	3764	c.3402G>A	c.(3400-3402)agG>agA	p.R1134R	BCOR_ENST00000378444.4_Silent_p.R1134R|BCOR_ENST00000378463.1_Silent_p.R11R|BCOR_ENST00000397354.3_Silent_p.R1134R|BCOR_ENST00000378455.4_Silent_p.R1116R	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1134					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGCGTTTCCTGTCCACCC	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	37					0	0	0.008291	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418986	10418986	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10418986C>T	ENST00000403903.3	-	1	1570	c.372G>A	c.(370-372)caG>caA	p.Q124Q	ZGLP1_ENST00000403352.1_Silent_p.Q40Q|CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000541276.1_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	124					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGGCCTTCTCTGGGGTGGGG	0.652000													6	19					0	0	0.001168	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252710	100252710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:100252710C>T	ENST00000160382.5	-	4	407	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	101					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TAGGTGTGATCCAGGATGGCT	0.597000													18	37					0	0	0.007413	0	0
SAMD9	54809	broad.mit.edu	37	7	92732795	92732795	+	Silent	SNP	G	G	A	rs147774813		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:92732795G>A	ENST00000379958.2	-	3	2885	c.2616C>T	c.(2614-2616)atC>atT	p.I872I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	872						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTGTTCTTTGATTTCTTTCA	0.333000													20	43					0	0	0.007413	0	0
ZNF407	55628	broad.mit.edu	37	18	72343420	72343420	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:72343420A>T	ENST00000299687.5	+	1	445	c.445A>T	c.(445-447)Act>Tct	p.T149S	ZNF407_ENST00000582337.1_Missense_Mutation_p.T149S|ZNF407_ENST00000309902.6_Missense_Mutation_p.T149S|ZNF407_ENST00000577538.1_Missense_Mutation_p.T149S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAACAGACACTGAAAAAAC	0.428000													10	30					0	0	0.008291	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410701	153410701	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:153410701C>T	ENST00000368725.2	-	2	137	c.138G>A	c.(136-138)ttG>ttA	p.L46L		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCCTTCATCAAGTTCACCA	0.512000													17	54					0	0	0.006122	0	0
DMBX1	127343	broad.mit.edu	37	1	46977741	46977741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:46977741C>T	ENST00000371956.4	+	4	739	c.724C>T	c.(724-726)Cct>Tct	p.P242S	DMBX1_ENST00000360032.3_Missense_Mutation_p.P237S	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	242					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GACCATCACTCCTGTGGCCCC	0.627000													29	176					0	0	0.001786	0	0
PHLPP2	23035	broad.mit.edu	37	16	71686892	71686892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71686892G>A	ENST00000393524.2	-	16	3150	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	PHLPP2_ENST00000568954.1_Missense_Mutation_p.S873F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S908F|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S873F|PHLPP2_ENST00000540628.1_Missense_Mutation_p.S83F|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S873F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	873	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGAGCGGAGGAGCCCAACTT	0.517000													22	24					0	0	0.003954	0	0
COL6A3	1293	broad.mit.edu	37	2	238270418	238270418	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:238270418C>T	ENST00000295550.4	-	15	6572	c.6120G>A	c.(6118-6120)agG>agA	p.R2040R	COL6A3_ENST00000409809.1_Silent_p.R1834R|COL6A3_ENST00000353578.4_Silent_p.R1834R|COL6A3_ENST00000347401.3_Silent_p.R1839R|COL6A3_ENST00000472056.1_Silent_p.R1433R|COL6A3_ENST00000346358.4_Silent_p.R1840R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2040	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCGGTCTCCCCTCTGCCCAG	0.552000													24	54					0	0	0.003330	0	0
LRRC40	55631	broad.mit.edu	37	1	70652993	70652993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:70652993G>A	ENST00000370952.3	-	3	441	c.362C>T	c.(361-363)cCt>cTt	p.P121L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	121										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TATAGCAGAAGGAAGGGATGT	0.274000													29	57					0	0	0.002836	0	0
IRF4	3662	broad.mit.edu	37	6	401457	401457	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:401457A>C	ENST00000380956.4	+	7	905	c.779A>C	c.(778-780)gAa>gCa	p.E260A		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	260					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TACTACCGGGAAATCCTCGTG	0.622000			T	IGH@	MM								17	47					0	0	0.001523	0	0
POF1B	79983	broad.mit.edu	37	X	84634308	84634308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:84634308C>T	ENST00000262753.4	-	2	297	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	POF1B_ENST00000373145.3_Missense_Mutation_p.R51Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	51							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTCCTCACTCGCTCATACAC	0.567000													17	23					0	0	0.006122	0	0
THOC2	57187	broad.mit.edu	37	X	122754817	122754817	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:122754817C>T	ENST00000245838.8	-	32	4248		c.e32-1		THOC2_ENST00000491737.1_Splice_Site|THOC2_ENST00000355725.4_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CGTTTTTGTTCTGTTAAGACA	0.388000													53	130					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237948051	237948051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:237948051G>A	ENST00000366574.2	+	90	13356	c.13039G>A	c.(13039-13041)Gag>Aag	p.E4347K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4331K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4353K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4347					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)			AGGAGATGGGGAGGAGGGAGA	0.542000													52	49					0	0	0.003610	0	0
SPATA17	128153	broad.mit.edu	37	1	217947741	217947741	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:217947741G>A	ENST00000366933.4	+	7	640	c.585G>A	c.(583-585)aaG>aaA	p.K195K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	195						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATTACAGAAGGCAAAGCCTT	0.423000													38	111					0	0	0.002522	0	0
OR2T10	127069	broad.mit.edu	37	1	248756222	248756222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:248756222G>A	ENST00000330500.2	-	1	878	c.848C>T	c.(847-849)cCt>cTt	p.P283L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCAAGACAGGTGTAAGGAT	0.398000													24	52					0	0	0.002299	0	0
LMOD3	56203	broad.mit.edu	37	3	69169211	69169211	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:69169211C>T	ENST00000420581.2	-	2	474	c.294_splice	c.e2-1	p.E99_splice	LMOD3_ENST00000489031.1_Splice_Site_p.E99_splice|LMOD3_ENST00000475434.1_Splice_Site_p.E99_splice	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	99	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGTCTTTTCCTACAAGAGA	0.313000													11	30					0	0	0.001855	0	0
OPN3	23596	broad.mit.edu	37	1	241761296	241761296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:241761296G>A	ENST00000366554.2	-	3	803	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	OPN3_ENST00000331838.5_Missense_Mutation_p.R154C|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	233					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCACACAACGAAGCTGCAGA	0.353000													6	22					0	0	0.001168	0	0
SMC1B	27127	broad.mit.edu	37	22	45789546	45789546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:45789546C>T	ENST00000357450.4	-	9	1512	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E505K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	505	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAAGGTGTTCCAGAACCTCT	0.348000													37	42					0	0	0.002222	0	0
GPR98	84059	broad.mit.edu	37	5	89953923	89953923	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:89953923T>C	ENST00000405460.2	+	21	4676	c.4580T>C	c.(4579-4581)aTt>aCt	p.I1527T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1527	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATTCATTATTTCTGCAAGA	0.363000													40	89					0	0	0.007835	0	0
ADAM18	8749	broad.mit.edu	37	8	39535031	39535031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:39535031C>T	ENST00000265707.5	+	15	1652	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.S512L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	536	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.S536L(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTAAAAATTCACAACCATTA	0.318000													12	23					0	0	0.000978	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765958	171765958	+	Silent	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:171765958A>G	ENST00000311601.5	-	13	2321	c.2151T>C	c.(2149-2151)gaT>gaC	p.D717D	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	717					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCTGAGACCATCCTGTTTGC	0.637000													21	42					0	0	0.001523	0	0
PLGLA	285189	broad.mit.edu	37	2	107007391	107007391	+	RNA	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:107007391G>A	ENST00000484422.1	+	0	240																											GACTGGGAATGGAAAGAACTA	0.463000													15	15					0	0	0.001882	0	0
MAP1A	4130	broad.mit.edu	37	15	43815653	43815653	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:43815653T>C	ENST00000382031.1	+	5	2727	c.2696T>C	c.(2695-2697)aTg>aCg	p.M899T	MAP1A_ENST00000399453.1_Missense_Mutation_p.M661T|MAP1A_ENST00000300231.5_Missense_Mutation_p.M661T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	661						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTAGAAGAAATGGAGGAGGTA	0.478000													7	12					0	0	0.003080	0	0
ENGASE	64772	broad.mit.edu	37	17	77078262	77078262	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:77078262C>T	ENST00000539857.2	+	6	1012	c.597C>T	c.(595-597)tcC>tcT	p.S199S	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCTGTTCTTCCCAGAGTGGGG	0.572000													3	9					0	0	0.004672	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538630	105538630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:105538630C>T	ENST00000332180.5	+	22	2401	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	772					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGCACATCTTCCCAGTCAGAC	0.383000													20	63					0	0	0.002780	0	0
MARK1	4139	broad.mit.edu	37	1	220805570	220805570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:220805570G>A	ENST00000402574.1	+	11	1634	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	MARK1_ENST00000366918.4_Missense_Mutation_p.R324Q|MARK1_ENST00000366917.4_Missense_Mutation_p.R346Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	346	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCTTTGCACGAGATGAAATA	0.313000													159	141					0	0	0.003610	0	0
TNIK	23043	broad.mit.edu	37	3	170819380	170819380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:170819380C>T	ENST00000436636.2	-	22	2793	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TNIK_ENST00000538048.1_Missense_Mutation_p.E769K|TNIK_ENST00000475336.1_Missense_Mutation_p.E725K|TNIK_ENST00000470834.1_Missense_Mutation_p.E780K|TNIK_ENST00000488470.1_Missense_Mutation_p.E762K|TNIK_ENST00000460047.1_Missense_Mutation_p.E754K|TNIK_ENST00000369326.5_Missense_Mutation_p.E795K|TNIK_ENST00000357327.5_Missense_Mutation_p.E788K|TNIK_ENST00000341852.6_Missense_Mutation_p.E733K|TNIK_ENST00000284483.8_Missense_Mutation_p.E809K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	817	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGTTTCTTCAATCCGGAGT	0.453000													57	79					0	0	0.003610	0	0
KLHDC9	126823	broad.mit.edu	37	1	161068775	161068775	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:161068775G>A	ENST00000392192.2	+	1	592	c.450G>A	c.(448-450)cgG>cgA	p.R150R	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000368011.4_Silent_p.R150R	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	150										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGCTGGCCGGGAGGGCGGTA	0.647000													9	10					0	0	0.004482	0	0
FAM83H	286077	broad.mit.edu	37	8	144812692	144812692	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:144812692G>C	ENST00000388913.3	-	2	186	c.61C>G	c.(61-63)Ccg>Gcg	p.P21A		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	21					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGTGAGGCGGCAGGTACCCG	0.677000													12	19					0	0	0.001855	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026412	129026412	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:129026412G>C	ENST00000259241.6	-	2	573	c.560C>G	c.(559-561)cCc>cGc	p.P187R		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	187	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGGGACACGGGGTCTCGTAG	0.632000													5	48					0	0	0.004482	0	0
KIF13B	23303	broad.mit.edu	37	8	28956730	28956730	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:28956730G>T	ENST00000524189.1	-	36	4282	c.4244C>A	c.(4243-4245)tCc>tAc	p.S1415Y		NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1415					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGTGGTTTGGGATACATCCTG	0.408000													74	124					1.45978e-39	2.75607e-39	0.003610	1	0
TP53BP2	7159	broad.mit.edu	37	1	223987611	223987611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:223987611C>T	ENST00000391878.2	-	12	1856	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R492Q	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	486					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGAGCATCCCGCAAGATATC	0.413000													29	32					0	0	0.006320	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Missense_Mutation	SNP	C	C	G	rs113587125	by1000genomes	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:71507232C>G	ENST00000528685.1	+	3	329	c.329C>G	c.(328-330)cCg>cGg	p.P110R	FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612000													4	110					0	0	0.000248	0	0
IGSF21	84966	broad.mit.edu	37	1	18661458	18661458	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:18661458G>A	ENST00000251296.1	+	4	761	c.378G>A	c.(376-378)agG>agA	p.R126R		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	126	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCGCCACCAGGGAGAAGGTGG	0.612000													14	36					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9089201	9089201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:9089201G>A	ENST00000397910.4	-	1	2817	c.2614C>T	c.(2614-2616)Cca>Tca	p.P872S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	872	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACAGATGGATTCGAAGTT	0.493000													11	31					0	0	0.008291	0	0
TAF6	6878	broad.mit.edu	37	7	99711836	99711836	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:99711836G>A	ENST00000472509.1	-	1	345	c.168C>T	c.(166-168)tcC>tcT	p.S56S	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Silent_p.S36S|TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000452041.1_5'UTR			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCATTCTGGAGTCCCTCT	0.572000													26	49					0	0	0.006320	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:21971208C>A	ENST00000578845.2	-	0	123				CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			25	22					1.12875e-08	2.08114e-08	0.006320	1	0
TEP1	7011	broad.mit.edu	37	14	20853250	20853250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:20853250C>T	ENST00000262715.5	-	21	3041	c.3001G>A	c.(3001-3003)Ggg>Agg	p.G1001R	TEP1_ENST00000556935.1_Missense_Mutation_p.G893R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1001					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGAGCGCCCTGAAGGGTAC	0.592000													19	52					0	0	0.001523	0	0
SMG5	23381	broad.mit.edu	37	1	156233338	156233338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:156233338C>T	ENST00000361813.5	-	13	2023	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	627					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCACTCCCCTCCGACTCAGAG	0.562000													43	55					0	0	0.003214	0	0
CSMD2	114784	broad.mit.edu	37	1	33985221	33985221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:33985221C>T	ENST00000373381.4	-	70	10969	c.10793G>A	c.(10792-10794)cGg>cAg	p.R3598Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral to membrane|plasma membrane	protein binding	p.R3454L(1)|p.R3454Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAATGTGGCCCGAACATTGGT	0.532000													100	219					0	0	0.003610	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:15535023G>A	ENST00000389282.4	-	9	4980	c.4767C>T	c.(4765-4767)ttC>ttT	p.F1589F	WIZ_ENST00000263381.6_Silent_p.F732F|WIZ_ENST00000599686.2_Silent_p.F773F|WIZ_ENST00000599910.1_Silent_p.F906F|WIZ_ENST00000545156.1_Silent_p.F903F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000													10	11					0	0	0.006214	0	0
ABCB5	340273	broad.mit.edu	37	7	20725384	20725384	+	Silent	SNP	A	A	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:20725384A>C	ENST00000404938.2	+	16	2587	c.1935A>C	c.(1933-1935)tcA>tcC	p.S645S	ABCB5_ENST00000258738.6_Silent_p.S200S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	200	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACCAACTCACTTCCTCTGC	0.388000													14	15					0	0	0.003163	0	0
ZNF700	90592	broad.mit.edu	37	19	12059734	12059734	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:12059734A>G	ENST00000482090.1	+	3	1259	c.841A>G	c.(841-843)Agt>Ggt	p.S281G	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S299G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACATGAAAGAAGTCACATGGG	0.388000													9	15					0	0	0.004482	0	0
POTEA	340441	broad.mit.edu	37	8	43147853	43147853	+	RNA	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:43147853G>A	ENST00000522175.2	+	0	228							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCTGGTGGGGTGAAGTCCC	0.602000													23	45					0	0	0.003330	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375806	93375806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:93375806C>T	ENST00000375765.3	-	2	692	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.E102K(3)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGATTTGTTCGTAGATGGGC	0.592000													64	20					0	0	0.003610	0	0
OR4L1	122742	broad.mit.edu	37	14	20528879	20528879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:20528879C>T	ENST00000315683.1	+	1	676	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGTCAGTGTACCAAAAAAATC	0.438000													41	76					0	0	0.003214	0	0
DDX3X	1654	broad.mit.edu	37	X	41204554	41204554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:41204554G>A	ENST00000399959.2	+	11	2002	c.1147G>A	c.(1147-1149)Gct>Act	p.A383T	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A367T|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	383	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATGTTTAGTGCTACTTTTCC	0.343000										HNSCC(61;0.18)			16	80					0	0	0.008871	0	0
DSC1	1823	broad.mit.edu	37	18	28710554	28710554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:28710554C>T	ENST00000257198.5	-	16	2869	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	870					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCCTCTTCTTCCTGCCGATCG	0.423000													24	56					0	0	0.003954	0	0
GRIA2	2891	broad.mit.edu	37	4	158254054	158254054	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:158254054C>T	ENST00000296526.7	+	7	1291	c.966C>T	c.(964-966)tcC>tcT	p.S322S	GRIA2_ENST00000449365.1_Silent_p.S275S|GRIA2_ENST00000507898.1_Silent_p.S275S|GRIA2_ENST00000393815.2_Silent_p.S275S|GRIA2_ENST00000264426.9_Silent_p.S322S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	322					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGAAATCTCCCGAAGGGGGA	0.483000													36	45					0	0	0.003755	0	0
AP1M1	8907	broad.mit.edu	37	19	16337294	16337294	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:16337294C>T	ENST00000291439.3	+	6	1058	c.609C>T	c.(607-609)ttC>ttT	p.F203F	AP1M1_ENST00000541844.1_Silent_p.F131F|AP1M1_ENST00000429941.2_Silent_p.F203F|AP1M1_ENST00000590756.1_Silent_p.F131F|AP1M1_ENST00000444449.2_Silent_p.F215F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	203	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGCGAGTCTTCCTCTCGGGCA	0.647000													4	5					0	0	0.000602	0	0
LAMC2	3918	broad.mit.edu	37	1	183209476	183209476	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:183209476T>C	ENST00000264144.4	+	22	3343	c.3278T>C	c.(3277-3279)gTt>gCt	p.V1093A	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.V1093A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1093	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AACGCTGGGGTTACAATCCAA	0.483000													19	84					0	0	0.008871	0	0
POTEC	388468	broad.mit.edu	37	18	14511986	14511986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:14511986G>A	ENST00000358970.5	-	11	1539	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	514										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTATGACTAAGAGAAAGCTAA	0.313000													5	14					0	0	0.000602	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:111604089G>A	ENST00000431670.2	+	2	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E416K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E389K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000													29	57					0	0	0.005443	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115531737	115531737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:115531737G>A	ENST00000361048.1	+	8	888	c.561G>A	c.(559-561)atG>atA	p.M187I	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.M181I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.M99I|PLEKHS1_ENST00000369309.1_Start_Codon_SNP_p.M1I	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AGCATTTAATGGAACAAAGTT	0.343000													24	25					0	0	0.002780	0	0
TRPC7	57113	broad.mit.edu	37	5	135551958	135551958	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:135551958G>A	ENST00000513104.1	-	11	2631	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	TRPC7-AS1_ENST00000514459.1_RNA|TRPC7_ENST00000426057.2_Silent_p.I667I|TRPC7_ENST00000355180.3_Silent_p.I722I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	783					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGTTTCATGATTTTCTGAA	0.512000													6	11					0	0	0.001984	0	0
SENP7	57337	broad.mit.edu	37	3	101059023	101059023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:101059023C>T	ENST00000394095.2	-	16	2326	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	SENP7_ENST00000348610.3_Missense_Mutation_p.G725E|SENP7_ENST00000394091.1_Missense_Mutation_p.G594E|SENP7_ENST00000394094.2_Missense_Mutation_p.G693E|SENP7_ENST00000358203.3_Missense_Mutation_p.G594E|SENP7_ENST00000314261.7_Missense_Mutation_p.G692E	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	758					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCTAATCCCCCCTTAGTAGG	0.294000													8	18					0	0	0.004482	0	0
GUK1	2987	broad.mit.edu	37	1	228334611	228334611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:228334611G>A	ENST00000366718.1	+	4	650	c.223G>A	c.(223-225)Gag>Aag	p.E75K	GUK1_ENST00000366723.1_Missense_Mutation_p.E96K|GUK1_ENST00000366721.1_Missense_Mutation_p.E77K|GUK1_ENST00000366726.1_Missense_Mutation_p.E75K|GUK1_ENST00000366728.2_Missense_Mutation_p.E96K|GUK1_ENST00000312726.4_Missense_Mutation_p.E75K|GUK1_ENST00000366730.1_Missense_Mutation_p.E75K|GUK1_ENST00000366722.1_Missense_Mutation_p.E75K|GUK1_ENST00000366716.1_Missense_Mutation_p.E75K|GUK1_ENST00000391865.3_Missense_Mutation_p.E96K|GUK1_ENST00000470040.1_3'UTR	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	75	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CGAGCATGCCGAGTTCTCGGG	0.607000													30	95					0	0	0.004289	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:39330868T>G	ENST00000221419.5	-	8	1467	c.1101A>C	c.(1099-1101)ccA>ccC	p.P367P	HNRNPL_ENST00000600873.1_Silent_p.P234P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642000													3	9					0	0	0.004482	0	0
MYO3B	140469	broad.mit.edu	37	2	171323156	171323156	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:171323156G>A	ENST00000334231.6	+	25	2976	c.2976G>A	c.(2974-2976)ctG>ctA	p.L992L	MYO3B_ENST00000408978.4_Silent_p.L983L|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.L983L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	983	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						CAGGGATTCTGGAGACAGTCA	0.537000													20	79					0	0	0.001882	0	0
SPTA1	6708	broad.mit.edu	37	1	158607904	158607904	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:158607904G>T	ENST00000368148.3	-	36	5288	c.5108C>A	c.(5107-5109)gCt>gAt	p.A1703D	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1703D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1703					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGGTGTGCAGCTGCCAATTC	0.443000													38	118					1.90571e-15	3.55531e-15	0.004289	1	0
SPAG17	200162	broad.mit.edu	37	1	118548050	118548050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:118548050C>T	ENST00000336338.5	-	32	4828	c.4763G>A	c.(4762-4764)gGa>gAa	p.G1588E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1588						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAAGTGTTTCCCTCAGGATC	0.428000													41	77					0	0	0.007835	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884208	228884208	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:228884208C>T	ENST00000392056.3	-	7	1408	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	SPHKAP_ENST00000344657.5_Silent_p.Q454Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	454						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCTGGACTCTGAACAACGA	0.502000													20	51					0	0	0.007413	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077323	19077323	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:19077323G>A	ENST00000329773.2	-	2	714	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	209					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCCACAGAGGATCCTGACCA	0.547000													10	23					0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	G	A	rs143735478		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:135428482G>A	ENST00000394143.1	+	6	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_ENST00000370652.1_Missense_Mutation_p.E873K|GPR112_ENST00000412101.1_Missense_Mutation_p.E668K|GPR112_ENST00000394141.1_Missense_Mutation_p.E668K|GPR112_ENST00000287534.4_Missense_Mutation_p.E810K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	873					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)					AGTGACAGACGAATCAGCACA	0.403000													63	81					0	0	0.003610	0	0
STK33	65975	broad.mit.edu	37	11	8494754	8494754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:8494754C>T	ENST00000447869.1	-	2	1213	c.295G>A	c.(295-297)Gga>Aga	p.G99R	STK33_ENST00000534493.1_Missense_Mutation_p.G58R|STK33_ENST00000396672.1_Missense_Mutation_p.G99R|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.G99R|STK33_ENST00000396673.1_Missense_Mutation_p.G99R			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	99						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGAACTTTTCCTTCTGTAAAG	0.378000													35	120					0	0	0.006999	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341289	50341289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:50341289C>T	ENST00000376020.2	-	8	4214	c.4189G>A	c.(4189-4191)Gat>Aat	p.D1397N	SHROOM4_ENST00000460112.3_Missense_Mutation_p.D1281N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.D1397N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1397	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCCTCTGAATCGATGCTGTTC	0.522000													11	38					0	0	0.001855	0	0
ZNF821	55565	broad.mit.edu	37	16	71894328	71894328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71894328G>A	ENST00000425432.1	-	8	1211	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	ZNF821_ENST00000565601.1_Missense_Mutation_p.R278C|ZNF821_ENST00000313565.6_Missense_Mutation_p.R236C|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.R236C|RP11-498D10.4_ENST00000568581.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTGGCCGTGCGCTCTCGTTCC	0.627000													22	48					0	0	0.003330	0	0
ZXDA	7789	broad.mit.edu	37	X	57936240	57936240	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:57936240G>A	ENST00000358697.4	-	1	827	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	205					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTTGGGGGGCGATCAGACACC	0.716000													5	22					0	0	0.000602	0	0
SPEG	10290	broad.mit.edu	37	2	220334052	220334052	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:220334052C>T	ENST00000312358.7	+	13	3798	c.3666C>T	c.(3664-3666)ttC>ttT	p.F1222F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGCTGGTTCCACAATGGCC	0.647000													7	14					0	0	0.003080	0	0
AP4E1	23431	broad.mit.edu	37	15	51221267	51221267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:51221267C>T	ENST00000261842.5	+	6	710	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.Q127*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	202					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGCTCCTAATCAAGTACAACA	0.353000													14	27					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13753547	13753547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:13753547G>A	ENST00000265104.4	-	63	10771	c.10667C>T	c.(10666-10668)cCa>cTa	p.P3556L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCCAAATGGAATTTTCCG	0.398000									Kartagener syndrome				41	101					0	0	0.003214	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647706	235647706	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:235647706A>G	ENST00000366600.3	-	4	715	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	B3GALNT2_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.F204L	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	163					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCATCGTAGAACACTCCAAGA	0.483000													60	138					0	0	0.003610	0	0
CRTC2	200186	broad.mit.edu	37	1	153921594	153921594	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:153921594C>T	ENST00000368633.1	-	12	1798	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	CRTC2_ENST00000368630.3_Silent_p.G237G	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	557					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TACTCACATTCCCCAGGTTGA	0.587000													32	33					0	0	0.006230	0	0
DGKB	1607	broad.mit.edu	37	7	14613891	14613891	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:14613891C>T	ENST00000403951.2	-	20	2138	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	DGKB_ENST00000402815.1_Silent_p.E572E|DGKB_ENST00000406247.3_Silent_p.E573E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.E565E|DGKB_ENST00000399322.3_Silent_p.E573E|DGKB_ENST00000444700.2_Silent_p.E554E|DGKB_ENST00000258767.5_Silent_p.E573E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	573					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGTCTCCTTTCTCATCTTTGT	0.358000													63	144					0	0	0.003610	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704310	56704310	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:56704310T>A	ENST00000586855.2	-	2	425	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGGGTTCCTGTCGTGATTT	0.562000													3	21					0	0	0.000248	0	0
MTOR	2475	broad.mit.edu	37	1	11300494	11300494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:11300494G>A	ENST00000361445.4	-	11	1728	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	551					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGGCGAAGGGGTTTGTGCAT	0.582000													42	56					0	0	0.007835	0	0
ZNF683	257101	broad.mit.edu	37	1	26691379	26691379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:26691379G>A	ENST00000436292.1	-	4	778	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	ZNF683_ENST00000374204.1_Missense_Mutation_p.L220F|ZNF683_ENST00000349618.3_Missense_Mutation_p.L220F|ZNF683_ENST00000403843.1_Missense_Mutation_p.L220F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGCAGCATGAGGAGGTGGGGA	0.607000													20	49					0	0	0.001523	0	0
FBLN2	2199	broad.mit.edu	37	3	13612972	13612972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:13612972G>A	ENST00000404922.3	+	2	1236	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	FBLN2_ENST00000492059.1_Missense_Mutation_p.V373M|FBLN2_ENST00000535798.1_Missense_Mutation_p.V399M|FBLN2_ENST00000295760.7_Missense_Mutation_p.V373M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	373	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACTCAGGCCGTGCCTGGCTC	0.667000													4	18					0	0	0.000248	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515650	70515650	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:70515650G>A	ENST00000381269.2	-	7	2994	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	SLC8A3_ENST00000357887.3_Silent_p.P745P|SLC8A3_ENST00000534137.1_Silent_p.P744P|SLC8A3_ENST00000528359.1_Silent_p.P745P|SLC8A3_ENST00000533541.1_Silent_p.P104P|SLC8A3_ENST00000394330.2_Silent_p.P104P|SLC8A3_ENST00000356921.2_Silent_p.P741P|SLC8A3_ENST00000216568.7_Silent_p.P118P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	747					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACTCTGTGGGGGGCACACAGG	0.597000													7	23					0	0	0.001984	0	0
NCAM1	4684	broad.mit.edu	37	11	113076293	113076293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:113076293G>A	ENST00000316851.7	+	3	365	c.365G>A	c.(364-366)gGg>gAg	p.G122E	NCAM1_ENST00000401611.2_Missense_Mutation_p.G131E|NCAM1_ENST00000533760.1_Missense_Mutation_p.G14E|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	132	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G122E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCCGGGAGGGGGAAGATGCC	0.502000													28	51					0	0	0.007291	0	0
SLIT2	9353	broad.mit.edu	37	4	20525429	20525429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:20525429C>T	ENST00000504154.1	+	13	1429	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	SLIT2_ENST00000273739.5_Nonsense_Mutation_p.Q397*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.Q393*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.Q397*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	393					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGATGCTTTTCAGGATCTCCA	0.403000													21	66					0	0	0.002299	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013590	75013590	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:75013590G>A	ENST00000379727.3	-	5	1314	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CYP1A1_ENST00000395048.2_Silent_p.I372I|CYP1A1_ENST00000395049.4_Silent_p.I372I|CYP1A1_ENST00000564596.1_Silent_p.I111I|CYP1A1_ENST00000567032.1_Silent_p.I372I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	372					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTCTCCAGGATGAAGGCCT	0.577000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				29	87					0	0	0.008361	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725457	31725457	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:31725457G>A	ENST00000396556.2	-	8	1517	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	OSBPL10_ENST00000438237.2_Silent_p.A401A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	465					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCTCGTGAAAGGCTGTGAGAT	0.552000													24	55					0	0	0.005443	0	0
OR10R2	343406	broad.mit.edu	37	1	158450547	158450547	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:158450547G>T	ENST00000368152.1	+	1	880	c.880G>T	c.(880-882)Gtg>Ttg	p.V294L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGACAGGCTGGTGACGGTGAC	0.458000													28	56					7.38237e-10	1.36646e-09	0.006320	1	0
CSF2RB	1439	broad.mit.edu	37	22	37334036	37334036	+	Missense_Mutation	SNP	C	C	T	rs147430768		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:37334036C>T	ENST00000262825.5	+	14	2421	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S735F|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S729F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S676F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	729					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCGTCTGTCTCCCTAGTTCCC	0.632000													20	96					0	0	0.003330	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987610	223987610	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:223987610C>T	ENST00000391878.2	-	12	1857	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.R492R	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	486					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCTGAGCATCCCGCAAGATAT	0.413000													29	32					0	0	0.006320	0	0
FLNA	2316	broad.mit.edu	37	X	153580735	153580735	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:153580735T>C	ENST00000422373.1	-	40	6807	c.6559A>G	c.(6559-6561)Aac>Gac	p.N2187D	FLNA_ENST00000360319.4_Missense_Mutation_p.N2187D|FLNA_ENST00000369850.3_Missense_Mutation_p.N2195D|FLNA_ENST00000369856.3_Missense_Mutation_p.N328D|FLNA_ENST00000344736.4_Missense_Mutation_p.N2155D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2195					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGTGTGGTTCTCCCCTTCC	0.592000													24	65					0	0	0.003954	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173357	41173357	+	Missense_Mutation	SNP	G	G	A	rs139416009		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:41173357G>A	ENST00000402844.3	-	2	1206	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	SLC25A17_ENST00000435456.2_Missense_Mutation_p.R158C|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.R85C|SLC25A17_ENST00000544408.1_Missense_Mutation_p.R121C			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	158					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CCTTCATCGCGAATGATCTGA	0.398000													20	19					0	0	0.001882	0	0
ARPP21	10777	broad.mit.edu	37	3	35763118	35763118	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:35763118G>A	ENST00000187397.4	+	14	1473	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ARPP21_ENST00000337271.5_Silent_p.G285G|ARPP21_ENST00000417925.1_Silent_p.G305G|ARPP21_ENST00000458225.1_Silent_p.G305G|ARPP21_ENST00000444190.1_Silent_p.G285G	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	339	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGGCTCAGGGAGAACATCTG	0.542000													14	28					0	0	0.004007	0	0
COL1A2	1278	broad.mit.edu	37	7	94050349	94050349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:94050349G>A	ENST00000297268.6	+	38	2795	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	775			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCTGCTGGAAGTCGTGGT	0.428000										HNSCC(75;0.22)			28	53					0	0	0.001786	0	0
OR8I2	120586	broad.mit.edu	37	11	55861168	55861168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:55861168C>T	ENST00000302124.2	+	1	416	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	OR8I2_ENST00000560768.1_Missense_Mutation_p.P129S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AATCTGCAATCCCTTACTGTA	0.438000													28	65					0	0	0.007291	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135452	126135452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:126135452G>A	ENST00000299308.3	+	7	1860	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D130N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	618						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCAGTTACAGGACGGCAGGAC	0.597000													10	31					0	0	0.006214	0	0
CHD8	57680	broad.mit.edu	37	14	21873466	21873466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:21873466G>A	ENST00000399982.2	-	15	3273	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	CHD8_ENST00000557364.1_Missense_Mutation_p.S1070F|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.S791F	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1070					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGAAAGGAAGGAGAAATTCTT	0.408000													7	13					0	0	0.003080	0	0
TRPV5	56302	broad.mit.edu	37	7	142609705	142609705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:142609705C>T	ENST00000265310.1	-	13	2079	c.1731G>A	c.(1729-1731)atG>atA	p.M577I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	577					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGTCGCCCATCATGGCGATGA	0.542000													83	25					0	0	0.003610	0	0
HSH2D	84941	broad.mit.edu	37	19	16268098	16268098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:16268098G>A	ENST00000593154.2	+	8	1084	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	HSH2D_ENST00000588246.1_Missense_Mutation_p.E185K|HSH2D_ENST00000397372.4_Missense_Mutation_p.E96K|HSH2D_ENST00000253680.6_Missense_Mutation_p.E185K	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	185						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AACCACCAAGGAAGCCACTTC	0.562000													15	29					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26902839	26902839	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:26902839C>T	ENST00000231021.4	-	7	1172		c.e7-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATCTAAATTCTGGAGTTAAA	0.323000													6	20					0	0	0.001168	0	0
COL5A3	50509	broad.mit.edu	37	19	10088149	10088149	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10088149C>T	ENST00000264828.3	-	43	3212		c.e43-1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACGTTCTCCCTGTTGTGGGG	0.657000													31	46					0	0	0.002096	0	0
CNOT4	4850	broad.mit.edu	37	7	135080575	135080575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:135080575G>A	ENST00000428680.2	-	9	1210	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	CNOT4_ENST00000361528.4_Missense_Mutation_p.P311S|CNOT4_ENST00000356162.4_Missense_Mutation_p.P314S|CNOT4_ENST00000541284.1_Missense_Mutation_p.P314S|CNOT4_ENST00000315544.5_Missense_Mutation_p.P314S|CNOT4_ENST00000423368.2_Missense_Mutation_p.P314S|CNOT4_ENST00000414802.1_Missense_Mutation_p.P314S|CNOT4_ENST00000451834.1_Missense_Mutation_p.P311S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	314					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAACTGATGGGGATGACTGGA	0.413000													11	23					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	71007919	71007919	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:71007919A>G	ENST00000393567.2	-	34	5192	c.5042T>C	c.(5041-5043)gTt>gCt	p.V1681A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1681										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)				TGGCCCTCCAACCACCTAGAG	0.483000													20	38					0	0	0.003954	0	0
NYAP1	222950	broad.mit.edu	37	7	100087164	100087164	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:100087164A>T	ENST00000423930.1	+	4	1979	c.1820A>T	c.(1819-1821)cAc>cTc	p.H607L	NYAP1_ENST00000454988.1_Missense_Mutation_p.H550L|NYAP1_ENST00000300179.2_Missense_Mutation_p.H607L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	607																	TCCTGTGCCCACGTCATCGCC	0.632000													29	58					0	0	0.002096	0	0
TEP1	7011	broad.mit.edu	37	14	20853249	20853249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:20853249C>T	ENST00000262715.5	-	21	3042	c.3002G>A	c.(3001-3003)gGg>gAg	p.G1001E	TEP1_ENST00000556935.1_Missense_Mutation_p.G893E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1001					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGAGCGCCCTGAAGGGTA	0.597000													19	53					0	0	0.001523	0	0
THEM5	284486	broad.mit.edu	37	1	151824911	151824911	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:151824911T>C	ENST00000368817.5	-	2	279	c.148A>G	c.(148-150)Aca>Gca	p.T50A		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	50							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCAAGTCTGTCTTCTCTGGC	0.512000													58	53					0	0	0.003610	0	0
MYO1E	4643	broad.mit.edu	37	15	59516941	59516941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:59516941C>T	ENST00000288235.4	-	8	1123	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	242	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTGTATGAGCCCGAGAGGCTC	0.557000													17	45					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26902840	26902840	+	Splice_Site	SNP	T	T	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:26902840T>A	ENST00000231021.4	-	7	1172		c.e7-2			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTAAATTCTGGAGTTAAAT	0.323000													6	20					0	0	0.001168	0	0
PPP4R4	57718	broad.mit.edu	37	14	94707091	94707091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:94707091C>T	ENST00000304338.3	+	9	1089	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	312						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTCTTATTTCTTTATCTTTC	0.284000													9	50					0	0	0.006214	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404317	50404317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:50404317G>A	ENST00000435965.1	-	30	2728	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V	XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.A852V|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.A845V|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.A845V|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.A852V|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.A845V|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.A776V|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.A845V|XXcos-LUCA11.4_ENST00000607583.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	852					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GAACTTCTCAGCCCAAGCCTC	0.597000													17	29					0	0	0.008871	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				59	13					0	0	0.003610	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266097	3266097	+	RNA	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:3266097G>A	ENST00000576468.1	+	0	418																											CCTGCTGATGGCTCGACTCTC	0.532000													13	20					0	0	0.001368	0	0
RNF145	153830	broad.mit.edu	37	5	158601155	158601155	+	Silent	SNP	T	T	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:158601155T>C	ENST00000424310.2	-	6	992	c.633A>G	c.(631-633)gtA>gtG	p.V211V	RNF145_ENST00000518802.1_Silent_p.V241V|RNF145_ENST00000519865.1_Silent_p.V211V|RNF145_ENST00000520638.1_Silent_p.V225V|RNF145_ENST00000274542.2_Silent_p.V239V|RNF145_ENST00000521606.2_Silent_p.V228V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	211						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGCCATATACCTCCACTA	0.373000													7	11					0	0	0.001984	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026939	45026939	+	RNA	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:45026939C>T	ENST00000454753.1	-	0	753							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGATCAGGACCATCTGAGAGG	0.458000													92	154					0	0	0.003610	0	0
OR8I2	120586	broad.mit.edu	37	11	55861169	55861169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:55861169C>T	ENST00000302124.2	+	1	417	c.386C>T	c.(385-387)cCc>cTc	p.P129L	OR8I2_ENST00000560768.1_Missense_Mutation_p.P129L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCTGCAATCCCTTACTGTAT	0.443000													28	66					0	0	0.007291	0	0
C12orf40	283461	broad.mit.edu	37	12	40114730	40114730	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:40114730A>G	ENST00000324616.5	+	13	1790	c.1636A>G	c.(1636-1638)Aaa>Gaa	p.K546E		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	546										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAACGATGACAAAATTCACAA	0.333000													16	36					0	0	0.007413	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718682	140718682	+	Silent	SNP	C	C	T	rs150708423		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:140718682C>T	ENST00000394576.2	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCAACATCGCCAAGGACT	0.612000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	69					0	0	0.005524	0	0
HSPA9	3313	broad.mit.edu	37	5	137906798	137906798	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:137906798G>A	ENST00000297185.3	-	4	386	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	87					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAACTGAAGGGGTGGTTCTGG	0.468000													16	25					0	0	0.004007	0	0
ATG7	10533	broad.mit.edu	37	3	11356816	11356816	+	Splice_Site	SNP	A	A	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:11356816A>T	ENST00000354449.3	+	7	553		c.e7-1		ATG7_ENST00000446450.2_Splice_Site|ATG7_ENST00000354956.5_Splice_Site	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTCTGTTTTCAGATTGAAGCA	0.348000													9	26					0	0	0.000978	0	0
MPDU1	9526	broad.mit.edu	37	17	7490807	7490807	+	Missense_Mutation	SNP	G	G	C	rs147912291		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:7490807G>C	ENST00000250124.6	+	7	898	c.682G>C	c.(682-684)Gcc>Ccc	p.A228P	MPDU1_ENST00000396501.4_3'UTR|MPDU1_ENST00000423172.2_Intron	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	228					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						CGGCCTCATCGCCGCCCAGCT	0.562000													42	66					0	0	0.002522	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121191	38121191	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr22:38121191G>A	ENST00000406386.3	+	7	2883	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	876					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAAGGAGAATCTGAGAC	0.522000													28	124					0	0	0.007291	0	0
ITIH2	3698	broad.mit.edu	37	10	7786237	7786237	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:7786237A>G	ENST00000358415.4	+	18	2568	c.2402A>G	c.(2401-2403)aAt>aGt	p.N801S	ITIH2_ENST00000379587.4_Missense_Mutation_p.N790S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	801					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAGTCACGAATCAGAGGCAA	0.448000													21	13					0	0	0.002780	0	0
PAK7	57144	broad.mit.edu	37	20	9561212	9561212	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:9561212G>A	ENST00000378429.3	-	5	1116	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PAK7_ENST00000353224.5_Silent_p.S190S|PAK7_ENST00000378423.1_Silent_p.S190S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	190	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGCAAAATCGGATTTCAAAG	0.468000													52	27					0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64465735	64465735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr14:64465735C>T	ENST00000358025.3	+	27	3687	c.3457C>T	c.(3457-3459)Cag>Tag	p.Q1153*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1153*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q1153*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1153					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCTTGTCTGCAGGCTAAACT	0.363000													7	47					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	31462694	31462694	+	Silent	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:31462694A>G	ENST00000357033.4	-	60	9194	c.8988T>C	c.(8986-8988)aaT>aaC	p.N2996N	DMD_ENST00000343523.2_Silent_p.N536N|DMD_ENST00000359836.1_Silent_p.N536N|DMD_ENST00000378677.2_Silent_p.N2992N|DMD_ENST00000474231.1_Silent_p.N536N|DMD_ENST00000378707.3_Silent_p.N536N|DMD_ENST00000541735.1_Silent_p.N536N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2996					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGCAAGGTCATTGACGTGGC	0.463000													19	53					0	0	0.008871	0	0
MYO15A	51168	broad.mit.edu	37	17	18077192	18077192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:18077192G>A	ENST00000205890.5	+	65	10786	c.10448G>A	c.(10447-10449)gGg>gAg	p.G3483E	MYO15A_ENST00000418233.3_Missense_Mutation_p.G747E|MYO15A_ENST00000451725.2_Intron|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3483	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTGCGCTGGGGGACGTGGCG	0.642000													17	29					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196786854	196786854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:196786854G>A	ENST00000312428.6	-	24	3993	c.3893C>T	c.(3892-3894)tCc>tTc	p.S1298F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1298	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCCTAGGGGAATTACCCAG	0.343000													14	24					0	0	0.004990	0	0
TMC4	147798	broad.mit.edu	37	19	54666489	54666489	+	Silent	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:54666489G>T	ENST00000376591.4	-	10	1568	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	TMC4_ENST00000301187.4_Silent_p.V473V|TMC4_ENST00000416963.1_Silent_p.V61V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	479						integral to membrane		p.V473V(1)|p.V61V(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGGCCCAGGACAGTCTCCC	0.552000													7	50					1.12685e-05	2.06153e-05	0.004482	1	0
OR6C68	403284	broad.mit.edu	37	12	55886839	55886839	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:55886839C>T	ENST00000379662.1	+	1	693	c.693C>T	c.(691-693)ttC>ttT	p.F231F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000548615.1_Silent_p.F226F			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTAAAATTCCCTTCTGTTC	0.358000													11	19					0	0	0.008291	0	0
ROR2	4920	broad.mit.edu	37	9	94486685	94486685	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:94486685G>A	ENST00000375708.3	-	9	2289	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	ROR2_ENST00000375715.1_Silent_p.S557S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	697	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCCTGGTTGGAGTACCCGC	0.597000													35	8					0	0	0.003271	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089158	76089158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:76089158C>T	ENST00000335749.4	+	15	4675	c.4106C>T	c.(4105-4107)tCt>tTt	p.S1369F	TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1372F|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1372F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1369F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1369F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1372F	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1372					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGTGCCAAATCTGACAGTGAT	0.502000													19	29					0	0	0.001882	0	0
GABRE	2564	broad.mit.edu	37	X	151128445	151128445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:151128445G>A	ENST00000370325.1	-	6	703	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GABRE_ENST00000370328.3_Missense_Mutation_p.S217F|GABRE_ENST00000393914.3_Missense_Mutation_p.S24F			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGATAGGAAACTGGAAA	0.443000													23	39					0	0	0.002780	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500853	35500853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:35500853C>T	ENST00000599564.1	+	5	634	c.563C>T	c.(562-564)cCc>cTc	p.P188L	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.P101L|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.P94L|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.P101L			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	101						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCAAACTCCCCGAAGCAGAA	0.612000													30	57					0	0	0.001786	0	0
ATP2A3	489	broad.mit.edu	37	17	3831527	3831527	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:3831527G>A	ENST00000309890.7	-	21	3225	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000359983.3_Silent_p.A1025A|ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000352011.3_Intron|ATP2A3_ENST00000397035.3_Silent_p.A1025A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	0					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATACCAAAGAGGCCAACCCGG	0.602000													20	33					0	0	0.001882	0	0
FAM81A	145773	broad.mit.edu	37	15	59752222	59752222	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:59752222C>T	ENST00000288228.5	+	3	298	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	37										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AAGACAGGATCCTCTGCCATG	0.537000													8	21					0	0	0.003080	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033983	52033983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:52033983G>A	ENST00000346477.3	-	3	726	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P209S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P220S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P220S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P184S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P220S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	220	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCGGCTCCAGGGAACGTCACC	0.667000													35	59					0	0	0.003755	0	0
PRDM9	56979	broad.mit.edu	37	5	23526666	23526666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:23526666G>A	ENST00000296682.3	+	11	1651	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	490					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						TGTAGAGTGGGAAAAAGAATA	0.438000										HNSCC(3;0.000094)			15	19					0	0	0.002450	0	0
DDX39B	7919	broad.mit.edu	37	6	31498710	31498710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:31498710G>A	ENST00000376177.2	-	9	1142	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	DDX39B_ENST00000462421.1_5'UTR|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000396172.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCACCTGGAGGGAGACAGAGG	0.512000													16	39					0	0	0.004007	0	0
OR2G2	81470	broad.mit.edu	37	1	247752125	247752125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:247752125G>A	ENST00000320065.1	+	1	464	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G155E(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTCAGTGGAATAGCCACC	0.552000													121	99					0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201028413	201028413	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:201028413C>T	ENST00000362061.3	-	27	3655	c.3429G>A	c.(3427-3429)tcG>tcA	p.S1143S	CACNA1S_ENST00000367338.3_Silent_p.S1143S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1143					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCATCTGCTCCGACTGGTTGT	0.572000													7	72					0	0	0.004482	0	0
EPHA8	2046	broad.mit.edu	37	1	22903209	22903209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:22903209G>A	ENST00000166244.3	+	3	731	c.659G>A	c.(658-660)gGg>gAg	p.G220E	EPHA8_ENST00000538803.1_Missense_Mutation_p.G220E|EPHA8_ENST00000374644.4_Missense_Mutation_p.G220E	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	220	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCAGTGACGGGGGCCGACTCG	0.637000													18	44					0	0	0.006122	0	0
MPZL2	10205	broad.mit.edu	37	11	118133342	118133342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:118133342G>A	ENST00000278937.2	-	3	375	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	MPZL2_ENST00000438295.2_Missense_Mutation_p.P83S	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	83	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGTTGGAAGGGATCTATGTGG	0.527000													12	29					0	0	0.000978	0	0
WNK2	65268	broad.mit.edu	37	9	96030347	96030347	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr9:96030347G>A	ENST00000297954.4	+	17	3913	c.3913_splice	c.e17+1	p.V1305_splice	WNK2_ENST00000395477.2_Splice_Site_p.V1305_splice|WNK2_ENST00000427277.2_Splice_Site_p.V917_splice|WNK2_ENST00000349097.3_Splice_Site_p.V917_splice|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1305					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGCAGAACGGTGAGTCTGC	0.562000													3	4					0	0	0.004672	0	0
PACS1	55690	broad.mit.edu	37	11	65984200	65984200	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:65984200T>G	ENST00000320580.4	+	7	965	c.932T>G	c.(931-933)gTg>gGg	p.V311G		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	311					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCCGGAAAGTGAAGAAGACC	0.527000													11	29					0	0	0.001368	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919318	51919318	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:51919318C>T	ENST00000353836.5	-	5	1079	c.858G>A	c.(856-858)ctG>ctA	p.L286L	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.L228L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Silent_p.L228L|SIGLEC10_ENST00000339313.5_Silent_p.L286L|SIGLEC10_ENST00000432469.2_Silent_p.L203L|SIGLEC10_ENST00000436984.2_Silent_p.L238L|SIGLEC10_ENST00000356298.5_Silent_p.L286L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	286	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGACCCAGCTCAGTGTGGCAG	0.657000													6	12					0	0	0.001168	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163536	32163536	+	RNA	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:32163536C>T	ENST00000564145.1	-	0	65																											GTGCCTTCTCCAAACTCATCG	0.577000													11	122					0	0	0.001368	0	0
ZNF761	388561	broad.mit.edu	37	19	53959643	53959643	+	RNA	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:53959643C>T	ENST00000454407.1	+	0	2335							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCGTAGACTTCATACCGGAGA	0.408000													29	54					0	0	0.007291	0	0
DNMT1	1786	broad.mit.edu	37	19	10251856	10251856	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:10251856C>A	ENST00000340748.4	-	30	3506	c.3271G>T	c.(3271-3273)Gca>Tca	p.A1091S	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.A1091S|DNMT1_ENST00000359526.4_Missense_Mutation_p.A1107S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1091	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGCTCTTTGCATTATAGGCC	0.453000													39	82					4.67007e-22	8.74711e-22	0.008740	1	0
OR14K1	343170	broad.mit.edu	37	1	247902852	247902852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:247902852G>A	ENST00000283225.2	+	1	936	c.936G>A	c.(934-936)atG>atA	p.M312I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						gtggggtaatgaaaagatgac	0.373000													15	43					0	0	0.004007	0	0
PRSS48	345062	broad.mit.edu	37	4	152203360	152203360	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:152203360G>A	ENST00000455694.2	+	3	278	c.276G>A	c.(274-276)agG>agA	p.R92R	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTGACTCAAGGAAACGTGTGA	0.478000													105	108					0	0	0.003610	0	0
OLFM3	118427	broad.mit.edu	37	1	102302438	102302438	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:102302438T>G	ENST00000370103.4	-	2	426	c.213A>C	c.(211-213)gaA>gaC	p.E71D	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.E91D|OLFM3_ENST00000359814.3_Missense_Mutation_p.E91D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	91						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCTACCTTTTCCAGTAGTT	0.443000													30	77					0	0	0.003755	0	0
LIMK1	3984	broad.mit.edu	37	7	73534932	73534932	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr7:73534932G>A	ENST00000418310.1	+	14	1779	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	LIMK1_ENST00000538333.3_Silent_p.K495K|LIMK1_ENST00000336180.2_Silent_p.K529K			P53667	LIMK1_HUMAN	LIM domain kinase 1	529	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ATGATGAGAAGGTGGATGTGT	0.607000													20	58					0	0	0.002299	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014796	119014796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:119014796C>T	ENST00000298472.5	+	7	852	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	237					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGTGGGCCCCCCCTTCGGGAG	0.582000													21	19					0	0	0.002780	0	0
GINM1	116254	broad.mit.edu	37	6	149901054	149901054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr6:149901054G>A	ENST00000367419.5	+	5	635	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		CCTCCCTTTGGAAGAAAGCAT	0.353000													34	25					0	0	0.003755	0	0
MARCO	8685	broad.mit.edu	37	2	119752007	119752007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:119752007G>A	ENST00000541757.1	+	18	1620	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	MARCO_ENST00000327097.4_Missense_Mutation_p.E492K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	492	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCGGGGCACGGAGAGTACCCT	0.562000													8	49					0	0	0.003080	0	0
OR8B4	283162	broad.mit.edu	37	11	124294729	124294729	+	Silent	SNP	G	G	A	rs151066825		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:124294729G>A	ENST00000356130.3	-	1	60	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCCCACAAGGATAAACTCAG	0.488000													6	46					0	0	0.001168	0	0
FSHR	2492	broad.mit.edu	37	2	49189984	49189984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:49189984G>A	ENST00000406846.2	-	10	2095	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	FSHR_ENST00000304421.4_Missense_Mutation_p.S633L|FSHR_ENST00000541117.1_Missense_Mutation_p.S395L|FSHR_ENST00000346173.3_Missense_Mutation_p.S597L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	659					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACAGTGGATGAAGTTTCTGT	0.443000									Gonadal Dysgenesis, 46 XX				7	34					0	0	0.004482	0	0
TRIM29	23650	broad.mit.edu	37	11	120008047	120008047	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:120008047C>T	ENST00000341846.5	-	1	1114	c.693G>A	c.(691-693)acG>acA	p.T231T		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	231					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGAGCTCCATCGTCTTGCCAT	0.607000													21	35					0	0	0.001882	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093416	30093416	+	RNA	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:30093416A>G	ENST00000567636.1	+	0	1791					NR_003558.1																						CCCTTGCTGAACCCTGAGATT	0.532000													12	25					0	0	0.000978	0	0
MECOM	2122	broad.mit.edu	37	3	168833340	168833340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:168833340C>T	ENST00000464456.1	-	7	2956	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MECOM_ENST00000460814.1_Missense_Mutation_p.D586N|MECOM_ENST00000494292.1_Missense_Mutation_p.D774N|MECOM_ENST00000472280.1_Missense_Mutation_p.D587N|MECOM_ENST00000433243.2_Missense_Mutation_p.D587N|MECOM_ENST00000392736.3_Missense_Mutation_p.D586N|MECOM_ENST00000264674.3_Missense_Mutation_p.D651N|MECOM_ENST00000468789.1_Missense_Mutation_p.D586N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATACTTAGATCCAGGGGCTGG	0.532000													16	43					0	0	0.008871	0	0
BCL11A	53335	broad.mit.edu	37	2	60688755	60688755	+	Missense_Mutation	SNP	G	G	A	rs138166869		TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:60688755G>A	ENST00000335712.6	-	4	1519	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	BCL11A_ENST00000537768.1_Missense_Mutation_p.S100L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.S397L|BCL11A_ENST00000358510.4_Missense_Mutation_p.S397L|BCL11A_ENST00000356842.4_Missense_Mutation_p.S431L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	431					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S431L(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CATGGGGGACGATTTGTGCAT	0.652000			T	IGH@	B-CLL								175	262					0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247899	43247899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:43247899C>T	ENST00000255226.6	+	14	2635	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L607F|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L84F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	607						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCTCGGCCTCTTCATCCA	0.557000													28	71					0	0	0.006320	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681192	106681192	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:106681192T>G	ENST00000526355.1	-	5	1687	c.1219A>C	c.(1219-1221)Aaa>Caa	p.K407Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K407Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K428Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	407					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATTTGTCCTTTGACTTCCATC	0.358000													11	36					0	0	0.002450	0	0
PKP2	5318	broad.mit.edu	37	12	32949190	32949190	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:32949190G>C	ENST00000340811.4	-	11	2318	c.2210C>G	c.(2209-2211)aCa>aGa	p.T737R	PKP2_ENST00000070846.6_Missense_Mutation_p.T781R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	781					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTCGGGACTGTGTCAGGAAT	0.378000													8	23					0	0	0.004482	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856060	12856060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:12856060C>T	ENST00000332296.7	+	4	1443	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P202L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	447										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGCAGCCCAAGAGGATC	0.572000													54	319					0	0	0.003610	0	0
IRS1	3667	broad.mit.edu	37	2	227661962	227661962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:227661962G>A	ENST00000305123.4	-	1	2513	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	498					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCAAGCCTGTTCCTGGGGT	0.602000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	55					0	0	0.008871	0	0
OR3A1	4994	broad.mit.edu	37	17	3195591	3195591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:3195591G>A	ENST00000323404.1	-	1	285	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCCCCACAGGGAACTGCACGC	0.557000													22	47					0	0	0.003330	0	0
ATP7A	538	broad.mit.edu	37	X	77245339	77245339	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:77245339C>T	ENST00000341514.6	+	4	1376	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	ATP7A_ENST00000343533.5_Silent_p.S407S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	407	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GTGTAAAATCCATACGAGTCT	0.418000													56	71					0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr4:70361563G>A	ENST00000305107.6	-	1	63	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.T6I|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	6					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGAGCTGAAGTCCATTTCAT	0.443000													54	71					0	0	0.003610	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225585	118225585	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:118225585A>G	ENST00000369230.3	+	8	978	c.832A>G	c.(832-834)Aac>Gac	p.N278D		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	278					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGACTGTAACCATGCCCG	0.338000													28	28					0	0	0.008361	0	0
TMC7	79905	broad.mit.edu	37	16	19047031	19047031	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:19047031G>A	ENST00000421369.3	+	7	1119	c.561G>A	c.(559-561)cgG>cgA	p.R187R	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.R297R|TMC7_ENST00000304381.5_Silent_p.R297R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	297						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACCTGATTCGGAGTGAGGAGC	0.483000													26	58					0	0	0.007291	0	0
KLHL40	131377	broad.mit.edu	37	3	42733374	42733374	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:42733374G>A	ENST00000287777.4	+	6	1855	c.1754_splice	c.e6-1	p.R585_splice		NM_152393.2	NP_689606.2			kelch-like family member 40																		TCATCCCCAGGTATAACGAGG	0.592000													33	51					0	0	0.004289	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540287	96540287	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:96540287C>T	ENST00000371321.3	+	4	595	c.513C>T	c.(511-513)ggC>ggT	p.G171G	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	171					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCATCCTGGGCTGTGCTCCCT	0.328000													54	44					0	0	0.003610	0	0
LIPF	8513	broad.mit.edu	37	10	90435346	90435346	+	Missense_Mutation	SNP	C	C	T	rs138641581	byFrequency	TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:90435346C>T	ENST00000394375.3	+	9	963	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000355843.2_Missense_Mutation_p.R241C|LIPF_ENST00000238983.4_Missense_Mutation_p.R274C	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	274					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTCTAGAGTCGCTTGGATGT	0.333000													17	12					0	0	0.007413	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460414	53460414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:53460414C>T	ENST00000301463.4	-	9	1050	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G359R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	322										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGATGTCCCCTTTGTAACAG	0.587000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	9					0	0	0.004482	0	0
CACNA1S	779	broad.mit.edu	37	1	201063099	201063099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:201063099C>T	ENST00000362061.3	-	3	535	c.309G>A	c.(307-309)atG>atA	p.M103I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M103I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAATGATCTTCATGGCGGCTT	0.532000													20	59					0	0	0.003330	0	0
WNT7A	7476	broad.mit.edu	37	3	13916511	13916511	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:13916511G>A	ENST00000285018.4	-	2	535	c.231C>T	c.(229-231)ttC>ttT	p.F77F	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	77					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGCCATTGCGGAACTGAAACT	0.607000													18	28					0	0	0.001882	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014797	119014797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr10:119014797C>T	ENST00000298472.5	+	7	853	c.710C>T	c.(709-711)cCc>cTc	p.P237L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	237					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GTGGGCCCCCCCTTCGGGAGT	0.587000													20	20					0	0	0.001882	0	0
DDX42	11325	broad.mit.edu	37	17	61890605	61890605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:61890605C>T	ENST00000578681.1	+	16	2294	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	DDX42_ENST00000583590.1_Missense_Mutation_p.P565S|DDX42_ENST00000457800.2_Missense_Mutation_p.P565S|DDX42_ENST00000389924.2_Missense_Mutation_p.P565S|DDX42_ENST00000359353.5_Missense_Mutation_p.P446S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	565	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCTGGACATTCCTTCAATTAA	0.428000													13	25					0	0	0.001855	0	0
FBN1	2200	broad.mit.edu	37	15	48704822	48704822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr15:48704822G>A	ENST00000316623.5	-	65	8625	c.8170C>T	c.(8170-8172)Ccc>Tcc	p.P2724S	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2724					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCGTTTGGGGTAGCCATTG	0.517000													56	115					0	0	0.003610	0	0
RENBP	5973	broad.mit.edu	37	X	153206981	153206981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:153206981G>A	ENST00000393700.3	-	8	975	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.H285Y	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	299					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGGCCTCCGTGGTCAGGGTCC	0.572000													37	103					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2876166	2876166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr8:2876166G>A	ENST00000520002.1	-	53	8420	c.7865C>T	c.(7864-7866)tCg>tTg	p.S2622L	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2622L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2621L|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2622	Sushi 17.					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)		GCTTCCACACGAGATAACTAG	0.393000													29	76					0	0	0.007291	0	0
OR5P2	120065	broad.mit.edu	37	11	7817644	7817644	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:7817644G>T	ENST00000329434.2	-	1	876	c.846C>A	c.(844-846)aaC>aaA	p.N282K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGATCAGGGGGTTCAACATGG	0.423000													12	67					1.08611e-07	1.99472e-07	0.000978	1	0
KANK2	25959	broad.mit.edu	37	19	11289247	11289247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr19:11289247C>T	ENST00000432929.2	-	5	1759	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	KANK2_ENST00000586659.1_Missense_Mutation_p.E467K|KANK2_ENST00000589359.1_Missense_Mutation_p.E467K|KANK2_ENST00000355150.5_Missense_Mutation_p.E467K|KANK2_ENST00000589894.1_Missense_Mutation_p.E467K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	467										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGGCCTCCTCGGACTCTTGG	0.682000													11	32					0	0	0.002450	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293840	67293840	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr16:67293840G>A	ENST00000299798.11	+	12	1898	c.1833G>A	c.(1831-1833)ccG>ccA	p.P611P		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	611					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCTACAAGCCGCGCCGTAGGG	0.597000													5	16					0	0	0.003080	0	0
BRSK2	9024	broad.mit.edu	37	11	1471968	1471968	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr11:1471968A>G	ENST00000308219.9	+	14	1825	c.1439A>G	c.(1438-1440)aAc>aGc	p.N480S	BRSK2_ENST00000526678.1_Missense_Mutation_p.N502S|BRSK2_ENST00000528710.1_Missense_Mutation_p.N420S|BRSK2_ENST00000382179.1_Missense_Mutation_p.N526S|BRSK2_ENST00000528841.1_Missense_Mutation_p.N480S|BRSK2_ENST00000544817.1_Missense_Mutation_p.N175S|BRSK2_ENST00000308230.5_Missense_Mutation_p.N502S|BRSK2_ENST00000531197.1_Missense_Mutation_p.N480S	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	480					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGCGGCTCAACTCCATCAAG	0.687000													5	13					0	0	0.000602	0	0
DOK6	220164	broad.mit.edu	37	18	67345018	67345018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr18:67345018G>A	ENST00000382713.5	+	4	528	c.338G>A	c.(337-339)gGg>gAg	p.G113E	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	113							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GAGTGTCTGGGGACCAGGCTC	0.557000													15	61					0	0	0.003163	0	0
G6PC	2538	broad.mit.edu	37	17	41061429	41061429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:41061429C>T	ENST00000592383.1	+	4	559	c.479C>T	c.(478-480)cCt>cTt	p.P160L	G6PC_ENST00000585489.1_Intron|G6PC_ENST00000253801.2_Silent_p.L186L	NM_001270397.1	NP_001257326.1	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	0					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCTGGAGTCCTGTCAGGTAT	0.498000													42	98					0	0	0.007835	0	0
TMTC2	160335	broad.mit.edu	37	12	83290317	83290317	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr12:83290317A>G	ENST00000549919.1	+	4	3162	c.1357A>G	c.(1357-1359)Aca>Gca	p.T453A	TMTC2_ENST00000321196.3_Missense_Mutation_p.T459A|TMTC2_ENST00000548305.1_Missense_Mutation_p.T459A			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	459						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTTTATGCTACAGCTACACT	0.413000													22	19					0	0	0.001523	0	0
CDC20B	166979	broad.mit.edu	37	5	54420689	54420689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr5:54420689G>A	ENST00000296733.1	-	9	1331	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.P386L|CDC20B_ENST00000381375.2_Missense_Mutation_p.P386L	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	386										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACTGGCACCTGGATCGTGGGG	0.542000													28	47					0	0	0.005443	0	0
SIRPD	128646	broad.mit.edu	37	20	1532376	1532376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:1532376C>T	ENST00000381623.3	-	2	1571	c.382G>A	c.(382-384)Gag>Aag	p.E128K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E128K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	128	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GATTGGTACTCCTTGATAGCT	0.478000													37	33					0	0	0.004878	0	0
SCN11A	11280	broad.mit.edu	37	3	38889226	38889226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr3:38889226C>T	ENST00000302328.3	-	26	4533	c.4335G>A	c.(4333-4335)atG>atA	p.M1445I	SCN11A_ENST00000450244.1_Missense_Mutation_p.M1445I|SCN11A_ENST00000456224.3_Missense_Mutation_p.M1407I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1445					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGTAGAAATCATTGTACCTC	0.507000													4	10					0	0	0.000248	0	0
EZH1	2145	broad.mit.edu	37	17	40858189	40858189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:40858189G>A	ENST00000428826.2	-	16	1796	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	EZH1_ENST00000592743.1_Missense_Mutation_p.P559S|EZH1_ENST00000435174.1_Missense_Mutation_p.P420S|EZH1_ENST00000415827.2_Missense_Mutation_p.P550S|EZH1_ENST00000590078.1_Missense_Mutation_p.P489S|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000585893.1_Missense_Mutation_p.P519S			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	559	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CGACAGCCAGGGAAACGATTC	0.507000													23	42					0	0	0.003330	0	0
ZNF335	63925	broad.mit.edu	37	20	44577618	44577618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr20:44577618C>T	ENST00000322927.2	-	28	4103	c.4003G>A	c.(4003-4005)Gac>Aac	p.D1335N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1180N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGATGACGTCGTACTCGATG	0.617000													13	90					0	0	0.002450	0	0
KCNH7	90134	broad.mit.edu	37	2	163374610	163374610	+	Silent	SNP	G	G	A			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr2:163374610G>A	ENST00000332142.5	-	4	621	c.522C>T	c.(520-522)tcC>tcT	p.S174S	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.S174S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	174					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTGTGGTAAGGACTGCTTTC	0.403000													29	47					0	0	0.008361	0	0
SMG5	23381	broad.mit.edu	37	1	156233339	156233339	+	Silent	SNP	C	C	T			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr1:156233339C>T	ENST00000361813.5	-	13	2022	c.1878G>A	c.(1876-1878)tcG>tcA	p.S626S	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	626					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CACTCCCCTCCGACTCAGAGC	0.567000													42	55					0	0	0.002522	0	0
TP53I13	90313	broad.mit.edu	37	17	27899688	27899688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chr17:27899688delA	ENST00000301057.7	+	6	1157	c.1042delA	c.(1042-1044)cafs	p.T348fs	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	348						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CTGGGGGCCCACAGCGGACAG	0.692													2	4	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													4	5	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92927823	92927823	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20B-06A-11D-A196-08	TCGA-EE-A20B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e897c333-8533-44a3-9bd2-16c54320d5e5	033be73d-7639-4eb3-98d7-88eadb8633b8	g.chrX:92927823delC	ENST00000373079.3	-	1	744	c.481delG	c.(481-483)aafs	p.E161fs	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	161	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATTCACATTCTTCTTCTGTA	0.433													11	56	---	---	---	---					
