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
EXTL1	2134	broad.mit.edu	37	1	26360290	26360290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:26360290C>T	uc001blf.3	+	8	2489	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	541					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCTACACTGCTGAGAGG	0.577												
COL24A1	255631	broad.mit.edu	37	1	86590905	86590905	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:86590905T>G	uc001dlj.3	-	2	1189	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.N372H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	372					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCAGACATGTTTAGGAGAGAG	0.378												
OR2G2	81470	broad.mit.edu	37	1	247751819	247751819	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:247751819G>A	uc010pyy.2	+	0	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTGGTTTCTCGTCTGGAACCC	0.418												
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr10:89692830G>A	uc001kfb.3	+	4	1346	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
SYNJ2BP-COX16	55333	broad.mit.edu	37	14	70839825	70839825	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr14:70839825T>C	uc021rvn.1	-	3	448	c.321A>G	c.(319-321)atA>atG	p.I107M	SYNJ2BP-COX16_uc021rvm.1_Intron|SYNJ2BP-COX16_uc021rvo.1_Intron|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.I107M	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		CTCGATGTCCTATAGGTCCAT	0.473												
DNAH3	55567	broad.mit.edu	37	16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:20994175C>T	uc010vbe.2	-	48	7727	c.7727G>A	c.(7726-7728)cGc>cAc	p.R2576H	DNAH3_uc010vbd.2_Missense_Mutation_p.R11H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2576	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2576H(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507												
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388												
FXR2	9513	broad.mit.edu	37	17	7507356	7507357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:7507356_7507357insC	uc002gia.2	-	3	635_636	c.270_271insG	c.(268-273)tggctgfs	p.W90fs		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	90						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCCGGGCCAGCCACCAGCCAC	0.441												
MYH3	4621	broad.mit.edu	37	17	10537429	10537429	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:10537429C>T	uc002gmq.2	-	31	4515	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1476					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCAAGGAGCGGGACTCCTT	0.493												
CCDC47	57003	broad.mit.edu	37	17	61830101	61830101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:61830101C>T	uc002jbs.4	-	10	1429	c.1093_splice	c.e10+1	p.V365_splice	CCDC47_uc010ddx.3_Splice_Site_p.V365_splice|CCDC47_uc002jbt.2_Splice_Site_p.V365_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	365						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
FCGBP	8857	broad.mit.edu	37	19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:40376323A>G	uc002omp.4	-	24	11989	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3994	Cys-rich.					extracellular region	protein binding	p.V3994A(6)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562												
SIGLEC8	27181	broad.mit.edu	37	19	51960862	51960862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:51960862C>T	uc002pwt.3	-	1	653	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	196	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGGAGGACACGGAGGCCCCA	0.657												
NLRP8	126205	broad.mit.edu	37	19	56459235	56459235	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:56459235G>A	uc002qmh.3	+	0					NLRP8_uc010etg.3_5'UTR	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTCTTTATCGTGGACACTGA	0.448												
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483												
TANC1	85461	broad.mit.edu	37	2	160042398	160042398	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:160042398G>A	uc002uag.3	+	14	2881	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	TANC1_uc010zcm.2_Silent_p.A861A|TANC1_uc010fom.1_Silent_p.A675A	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	869						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCTGAAGGCGCACATTTTCA	0.517												
SCN9A	6335	broad.mit.edu	37	2	167141062	167141062	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:167141062G>A	uc010fpl.3	-	11	2216	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	625						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.N625N(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGACCACACCGTTGCAGTCCA	0.562												
TTN	7273	broad.mit.edu	37	2	179438641	179438641	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179438641G>C	uc021vsy.1	-	274	64739	c.64514C>G	c.(64513-64515)aCa>aGa	p.T21505R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15200R|TTN_uc021vta.1_Missense_Mutation_p.T15133R|TTN_uc021vtb.1_Missense_Mutation_p.T15008R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22432	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTGCTGTGCCTTCCAG	0.413												
TTN	7273	broad.mit.edu	37	2	179615121	179615121	+	Silent	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179615121A>G	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_5'Flank|TTN_uc002unb.2_Silent_p.T4002T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATGAAAGAGTTAATATTG	0.333												
TTN	7273	broad.mit.edu	37	2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179647637C>T	uc021vsy.1	-	17	3221	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_uc021vsz.1_Missense_Mutation_p.R953H|TTN_uc021vta.1_Missense_Mutation_p.R953H|TTN_uc021vtb.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	999	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A998D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATAAGACGAGCAATTCC	0.493												
COL6A3	1293	broad.mit.edu	37	2	238245018	238245018	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:238245018C>T	uc002vwl.2	-	39	9010	c.8725G>A	c.(8725-8727)Gct>Act	p.A2909T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2909	Ala-rich.|Nonhelical 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)		GGCTTTGCAGCGGCTGGCTTC	0.582												
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr21:45959752G>A	uc002zfh.1	-	0	327	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	94	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662												
DAG1	1605	broad.mit.edu	37	3	49570453	49570453	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr3:49570453C>T	uc021wxz.1	+	2	2978	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	DAG1_uc021wya.1_Missense_Mutation_p.P837S|DAG1_uc021wyb.1_Missense_Mutation_p.P837S|DAG1_uc021wyc.1_Missense_Mutation_p.P837S|DAG1_uc021wyd.1_Missense_Mutation_p.P837S|DAG1_uc021wye.1_Missense_Mutation_p.P837S|DAG1_uc021wyf.1_Missense_Mutation_p.P837S|DAG1_uc021wyg.1_Missense_Mutation_p.P837S|DAG1_uc021wyh.1_Missense_Mutation_p.P837S|DAG1_uc021wyi.1_Missense_Mutation_p.P837S|DAG1_uc021wyj.1_Missense_Mutation_p.P837S|DAG1_uc021wyk.1_Missense_Mutation_p.P837S|DAG1_uc003cxc.4_Missense_Mutation_p.P837S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	837	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGAGTGTGCCCGAGACCAC	0.637												
ANKRD17	26057	broad.mit.edu	37	4	73962983	73962983	+	Silent	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:73962983T>G	uc003hgp.3	-	26	5145	c.5028A>C	c.(5026-5028)tcA>tcC	p.S1676S	ANKRD17_uc003hgo.3_Silent_p.S1563S|ANKRD17_uc003hgq.3_Silent_p.S1425S|ANKRD17_uc003hgr.3_Silent_p.S1675S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1676	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.L1675L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATAGTTTCTGACAATCTTT	0.333												
FGA	2243	broad.mit.edu	37	4	155506815	155506815	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:155506815T>C	uc003iod.1	-	4	1824	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C	FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	589					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCTCTGTTGTAACTCGTGCT	0.443												
CDH18	1016	broad.mit.edu	37	5	19520824	19520825	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:19520824_19520825GG>AC	uc003jgd.3	-	9	1987_1988	c.1453_1454CC>GT	c.(1453-1455)cca>GTa	p.P485V	CDH18_uc011cnm.2_Missense_Mutation_p.P485V|CDH18_uc003jgc.3_Missense_Mutation_p.P485V|CDH18_uc021xwu.1_Missense_Mutation_p.P485V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	485	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAGTTCGGGTGGATTGTCATTG	0.381												
PCDHB16	57717	broad.mit.edu	37	5	140563145	140563145	+	Silent	SNP	G	G	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140563145G>T	uc003liv.3	+	0	2166	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	337	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCAGGTGGTGGACGTGA	0.502												
PCDHGC5	56113	broad.mit.edu	37	5	140720392	140720392	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140720392G>A	uc003ljk.2	+	0	2039	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S618S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677												
TUBB	203068	broad.mit.edu	37	6	30690337	30690337	+	Silent	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30690337A>G	uc003nrl.3	+	1	208	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TUBB_uc011dmq.2_5'UTR	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	27					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTGATGAACATGGCATCG	0.562												
DPCR1	135656	broad.mit.edu	37	6	30919762	30919762	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30919762C>T	uc003nsg.2	+	1	3521	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	305						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAAGACCACGTCAACCACA	0.468												
DDX39B	7919	broad.mit.edu	37	6	31504445	31504445	+	Missense_Mutation	SNP	C	C	A	rs75750725		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:31504445C>A	uc003ntt.3	-	4	1106	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C	DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Missense_Mutation_p.G150C|DDX39B_uc011dnn.2_Missense_Mutation_p.G72C|DDX39B_uc003ntv.3_Missense_Mutation_p.G150C|DDX39B_uc003ntw.2_Missense_Mutation_p.G150C|DDX39B_uc003ntx.2_Missense_Mutation_p.G150C|DDX39B_uc011dno.1_Missense_Mutation_p.G103C|DDX39B_uc011dnp.1_Missense_Mutation_p.G72C|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	150	Helicase ATP-binding.				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						GACAGACCACCAAAAAAAACA	0.507												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
RSBN1L	222194	broad.mit.edu	37	7	77378833	77378833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:77378833C>T	uc010ldt.1	+	2	840	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	266	Lys-rich.					nucleus		p.R266L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGAAAAACGGAAGCGTCC	0.353												
SEMA3E	9723	broad.mit.edu	37	7	82997239	82997239	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:82997239G>A	uc003uhy.2	-	16	2612	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	SEMA3E_uc022agy.1_Missense_Mutation_p.T604M	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	664	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTACGGACCGTATGGACAAA	0.458												
MYOM2	9172	broad.mit.edu	37	8	2040299	2040299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2040299G>A	uc003wpx.4	+	15	2092	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	MYOM2_uc011kwi.2_Missense_Mutation_p.G77R	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	652	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGTGGCCGGAACCAACCT	0.607												
CSMD1	64478	broad.mit.edu	37	8	2855644	2855644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2855644G>C	uc022aqr.1	-	53	8656	c.8266C>G	c.(8266-8268)Ctg>Gtg	p.L2756V	CSMD1_uc011kwj.2_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.3_Missense_Mutation_p.L767V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2757	Sushi 19.					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)		ACATCATTCAGGTTGAACTCA	0.527												
CDH17	1015	broad.mit.edu	37	8	95188833	95188833	+	Silent	SNP	G	G	A	rs148638200	byFrequency	TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:95188833G>A	uc003ygh.2	-	4	485	c.360C>T	c.(358-360)aaC>aaT	p.N120N	CDH17_uc011lgo.1_Silent_p.N120N|CDH17_uc011lgp.1_Silent_p.N120N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	120	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCGATTGTCGTTGATGTCCT	0.483												
FAM75C1	441452	broad.mit.edu	37	9	90536517	90536517	+	Silent	SNP	A	A	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:90536517A>T	uc010mqi.3	+	3	1724	c.1695A>T	c.(1693-1695)tcA>tcT	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507												
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:107288808G>A	uc011lvn.2	-	0	683	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403