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
CNOT2	4848	broad.mit.edu	37	12	70724190	70724190	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:70724190G>A	ENST00000229195.3	+	6	1089	c.510G>A	c.(508-510)tcG>tcA	p.S170S	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Silent_p.S170S	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	170					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.S170S(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACAGAAGCTCGCCAAGCATAA	0.453000													8	55					0	0	0.004482	0	0
MDGA1	266727	broad.mit.edu	37	6	37631827	37631827	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:37631827G>T	ENST00000434837.2	-	2	1301	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MDGA1_ENST00000297153.7_Missense_Mutation_p.D41E|MDGA1_ENST00000505425.1_Missense_Mutation_p.D41E	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	41	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCTGATATTGTCCTCTTTCA	0.612000													21	77					1.50039e-11	4.01174e-11	0.012319	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208364	65208364	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:65208364C>T	ENST00000247226.7	+	14	2269	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S215F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S243F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S710F	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	710					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCAGCACTCTCCACCCGAGAC	0.567000													21	36					0	0	0.014323	0	0
LAMA4	3910	broad.mit.edu	37	6	112437103	112437103	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:112437103T>C	ENST00000230538.7	-	36	5472	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S	LAMA4_ENST00000522006.1_Missense_Mutation_p.N1685S|LAMA4_ENST00000389463.4_Missense_Mutation_p.N1685S|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1685S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1692	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTACTCCCCATTGACACTGTG	0.418000													27	58					0	0	0.006320	0	0
MYO5B	4645	broad.mit.edu	37	18	47432876	47432876	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:47432876C>T	ENST00000285039.7	-	19	2626	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	776	IQ 1.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGCCATCCCCGGACAGTTTT	0.592000													7	42					0	0	0.001984	0	0
EPPK1	83481	broad.mit.edu	37	8	144946505	144946505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:144946505G>A	ENST00000525985.1	-	2	988	c.917C>T	c.(916-918)aCc>aTc	p.T306I				P58107	EPIPL_HUMAN	epiplakin 1	306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGCTCGGTGGCAGCCTG	0.682000													29	147					0	0	0.003271	0	0
S100A10	6281	broad.mit.edu	37	1	151958577	151958577	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:151958577C>T	ENST00000368811.3	-	2	789	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.E44K	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	44					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACACTTACTTCCAAAAATCCA	0.418000													10	87					0	0	0.010729	0	0
PPARG	5468	broad.mit.edu	37	3	12458329	12458329	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:12458329C>T	ENST00000397026.2	+	8	1263	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	PPARG_ENST00000309576.6_Missense_Mutation_p.R288C|PPARG_ENST00000397012.2_Missense_Mutation_p.R288C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.R288C|PPARG_ENST00000287820.6_Missense_Mutation_p.R316C|PPARG_ENST00000397010.2_Missense_Mutation_p.R288C|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	316					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTGCCAGTTTCGCTCCGTGGA	0.478000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						111	265					0	0	0.014410	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279172	139279172	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:139279172C>T	ENST00000298532.2	-	13	1788	c.1420_splice	c.e13+1	p.G474_splice		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	474	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCAACTTACCGACACCATAT	0.353000													7	19					0	0	0.001984	0	0
OR10W1	81341	broad.mit.edu	37	11	58034422	58034422	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:58034422C>T	ENST00000395079.2	-	1	1310	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCTAGCTGTTCTGGGAAAGGC	0.478000													14	56					0	0	0.003163	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904753	73904753	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:73904753G>A	ENST00000342056.2	+	15	2870	c.2472G>A	c.(2470-2472)agG>agA	p.R824R	KCNQ5_ENST00000402622.2_Silent_p.R815R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000403813.2_Silent_p.R796R|KCNQ5_ENST00000370398.1_Silent_p.R805R|KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000355194.4_Silent_p.R805R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	805					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCTATGAGGAAAAGCTTTG	0.483000													13	51					0	0	0.002450	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959675	45959675	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr21:45959675G>A	ENST00000400375.1	-	1	403	c.359C>T	c.(358-360)tCa>tTa	p.S120L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	120	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						CTGGCAGCATGAAGAGGAATC	0.622000													13	41					0	0	0.003163	0	0
HSPA5	3309	broad.mit.edu	37	9	128000451	128000451	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:128000451A>T	ENST00000324460.6	-	7	1574	c.1371T>A	c.(1369-1371)aaT>aaA	p.N457K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	457					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CAGTTGGTTGATTATCAGAAG	0.393000										Prostate(1;0.17)			13	45					0	0	0.002450	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698712	17698712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:17698712G>A	ENST00000399080.2	-	1	994	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	324										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATAACATTTGGAAAAAATGTT	0.343000													12	31					0	0	0.002450	0	0
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:113860273C>T	ENST00000504030.2	+	9	1670	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	HTR3A_ENST00000355556.2_Missense_Mutation_p.R447W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415W|HTR3A_ENST00000299961.5_Missense_Mutation_p.R394W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R441W|HTR3A_ENST00000535865.1_Missense_Mutation_p.R153W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637000													24	56					0	0	0.003330	0	0
IQGAP3	128239	broad.mit.edu	37	1	156501015	156501015	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:156501015G>A	ENST00000361170.2	-	33	4138	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1376					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAACTGTATGATATCGGCCA	0.587000													13	62					0	0	0.002450	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838742	16838742	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:16838742G>A	ENST00000355661.3	-	11	1481	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	PLEKHA7_ENST00000448080.2_Silent_p.L491L|PLEKHA7_ENST00000531066.1_Silent_p.L491L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	491					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACTTGGCAGGTTTCGGGGA	0.632000													27	90					0	0	0.009535	0	0
SCN3A	6328	broad.mit.edu	37	2	165987886	165987886	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:165987886G>A	ENST00000360093.3	-	16	2924	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	SCN3A_ENST00000283254.7_Silent_p.I811I|SCN3A_ENST00000409101.3_Silent_p.I762I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	811						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCATGGCAATGATCTTGAGAA	0.388000													21	57					0	0	0.002780	0	0
LARP4B	23185	broad.mit.edu	37	10	890981	890981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:890981G>A	ENST00000316157.3	-	5	485	c.445C>T	c.(445-447)Caa>Taa	p.Q149*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	149							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGTCTGGTTGAGACTCATTT	0.378000													11	29					0	0	0.010729	0	0
ABCA12	26154	broad.mit.edu	37	2	215854087	215854087	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:215854087G>A	ENST00000272895.7	-	26	4014	c.3795C>T	c.(3793-3795)ttC>ttT	p.F1265F	ABCA12_ENST00000389661.4_Silent_p.F947F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1265					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGCAATAAGGAAATAAATGA	0.403000													6	30					0	0	0.001168	0	0
CPN2	1370	broad.mit.edu	37	3	194062482	194062482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:194062482G>A	ENST00000323830.3	-	2	1039	c.950C>T	c.(949-951)tCc>tTc	p.S317F	CPN2_ENST00000429275.1_Missense_Mutation_p.S317F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	317					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GAGCATGAGGGAACGCAGGTT	0.572000													11	26					0	0	0.010729	0	0
PREX2	80243	broad.mit.edu	37	8	69009415	69009415	+	Silent	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:69009415T>A	ENST00000288368.4	+	22	2809	c.2532T>A	c.(2530-2532)ggT>ggA	p.G844G	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	844					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCCAAAGGTTTCTTCAGCT	0.423000													5	58					0	0	0.001168	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899544	156899544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156899544C>T	ENST00000311946.7	+	6	1093	c.977C>T	c.(976-978)cCc>cTc	p.P326L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.P307L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	326						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CACCCGCTCCCCTACATCCTG	0.577000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	92					0	0	0.004878	0	0
MOK	5891	broad.mit.edu	37	14	102718264	102718264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:102718264G>A	ENST00000361847.2	-	5	583	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.H118Y|MOK_ENST00000524214.1_Missense_Mutation_p.H88Y	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	118	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										CTGTGAATATGATCCAGGGAC	0.323000													10	25					0	0	0.010729	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507410	74507410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:74507410C>T	ENST00000354431.4	-	7	1396	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R402Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402Q(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCATACTCCGCTCCAATCG	0.353000													11	26					0	0	0.010729	0	0
ACAN	176	broad.mit.edu	37	15	89402228	89402228	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:89402228G>A	ENST00000439576.2	+	12	6786	c.6412G>A	c.(6412-6414)Gaa>Aaa	p.E2138K	ACAN_ENST00000561243.1_Missense_Mutation_p.E2138K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2138K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2138K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2138					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCATTCCACGAAGCTAACCT	0.577000													20	52					0	0	0.010504	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262123	140262123	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140262123C>T	ENST00000289272.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.592000													35	154					0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179588856	179588856	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179588856G>A	ENST00000589042.1	-	73	21354	c.21130C>T	c.(21130-21132)Ccc>Tcc	p.P7044S	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P6727S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6727	Ig-like 52.						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)			GTGAAAGAGGGAGGAACTGCT	0.418000													7	11					0	0	0.003080	0	0
CD2AP	23607	broad.mit.edu	37	6	47576922	47576922	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:47576922C>T	ENST00000359314.5	+	16	2152	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	566					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCTGACTCCATTAGAAAT	0.343000													11	24					0	0	0.010729	0	0
OR4N2	390429	broad.mit.edu	37	14	20296402	20296402	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:20296402C>T	ENST00000315947.1	+	1	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAGGGCTTTCCCAGCTGACA	0.453000													19	23					0	0	0.014323	0	0
BMPER	168667	broad.mit.edu	37	7	34091542	34091542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:34091542C>T	ENST00000297161.2	+	9	1120	c.746C>T	c.(745-747)tCc>tTc	p.S249F	BMPER_ENST00000426693.1_Missense_Mutation_p.S249F|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	249	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GACAATGGATCCTCATTTCTG	0.463000													51	128					0	0	0.014410	0	0
BDP1	55814	broad.mit.edu	37	5	70782429	70782429	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:70782429C>T	ENST00000358731.4	+	9	1451	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	396	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGAAGAAATCCACCAAACCAC	0.318000													9	28					0	0	0.008291	0	0
ERBB4	2066	broad.mit.edu	37	2	212568876	212568876	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:212568876G>A	ENST00000342788.4	-	11	1552	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	ERBB4_ENST00000436443.1_Silent_p.F414F|ERBB4_ENST00000402597.1_Silent_p.F414F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	414					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAAAAACACTGAAGTCAGTCA	0.388000										TSP Lung(8;0.080)			21	55					0	0	0.003954	0	0
PCF11	51585	broad.mit.edu	37	11	82880555	82880555	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:82880555G>T	ENST00000298281.4	+	8	3630	c.3178G>T	c.(3178-3180)Ggt>Tgt	p.G1060C		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1060	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGGTCAGCCAGGTCCTAGATT	0.507000													11	32					0.000978159	0.00256063	0.010729	1	0
CAMKV	79012	broad.mit.edu	37	3	49899749	49899749	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:49899749C>T	ENST00000477224.1	-	2	551	c.73G>A	c.(73-75)Gat>Aat	p.D25N	CAMKV_ENST00000463537.1_Missense_Mutation_p.D25N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D25N|CAMKV_ENST00000296471.7_Missense_Mutation_p.D25N|CAMKV_ENST00000467248.1_Intron|CAMKV_ENST00000466940.1_Missense_Mutation_p.D25N|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	25	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTCCCAAATCATATCTGTCA	0.577000													8	30					0	0	0.003080	0	0
MACF1	23499	broad.mit.edu	37	1	39549971	39549971	+	Silent	SNP	G	G	A	rs78058438		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:39549971G>A	ENST00000567887.1	+	1	238	c.81G>A	c.(79-81)agG>agA	p.R27R	MACF1_ENST00000539005.1_Silent_p.R27R|MACF1_ENST00000545844.1_Silent_p.R27R|MACF1_ENST00000317713.7_Silent_p.R27R|MACF1_ENST00000484793.1_Silent_p.R27R|MACF1_ENST00000602421.1_Silent_p.R27R|MACF1_ENST00000372915.3_Silent_p.R27R|MACF1_ENST00000361689.2_Silent_p.R27R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	27	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCTTACAGGAGCGAGCGGT	0.617000													6	23					0	0	0.003080	0	0
DOCK4	9732	broad.mit.edu	37	7	111398733	111398733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:111398733G>A	ENST00000428084.1	-	41	4548	c.4276C>T	c.(4276-4278)Cgc>Tgc	p.R1426C	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1417C|DOCK4_ENST00000494651.2_Missense_Mutation_p.R300C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1417	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGGTCATAGCGGAATTTCCAG	0.438000													13	18					0	0	0.003163	0	0
ZBED4	9889	broad.mit.edu	37	22	50277928	50277928	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50277928C>G	ENST00000216268.4	+	2	1095	c.618C>G	c.(616-618)atC>atG	p.I206M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	206						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCACCCATCAAACTTGTCC	0.547000													12	28					0	0	0.001855	0	0
OR10G2	26534	broad.mit.edu	37	14	22102844	22102844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:22102844G>A	ENST00000542433.1	-	1	252	c.155C>T	c.(154-156)aCc>aTc	p.T52I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCCACATGGTGAGCAGAAT	0.542000													15	25					0	0	0.002450	0	0
RABL2B	11158	broad.mit.edu	37	22	51208364	51208364	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:51208364G>A	ENST00000395595.3	-	7	845	c.378C>T	c.(376-378)atC>atT	p.I126I	RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Silent_p.I126I|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000354869.3_Silent_p.I126I|RABL2B_ENST00000395598.3_Silent_p.I126I|RABL2B_ENST00000395593.3_Silent_p.I126I	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	126					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGATGCATGGGATCTCTGGCC	0.522000													10	30					0	0	0.010729	0	0
OR2F2	135948	broad.mit.edu	37	7	143632411	143632411	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:143632411C>T	ENST00000408955.2	+	1	153	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCCTGTTTTCCCTGTTCTTG	0.448000													70	86					0	0	0.014410	0	0
IL7R	3575	broad.mit.edu	37	5	35876087	35876087	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:35876087T>A	ENST00000303115.3	+	8	1008	c.879T>A	c.(877-879)aaT>aaA	p.N293K	IL7R_ENST00000343305.4_Missense_Mutation_p.I262N	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	293					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTGTGCAGAATTTAAATGTGA	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	32					0	0	0.009096	0	0
RAMP3	10268	broad.mit.edu	37	7	45216990	45216990	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:45216990G>A	ENST00000242249.4	+	2	179	c.141G>A	c.(139-141)atG>atA	p.M47I	RAMP3_ENST00000481345.1_Missense_Mutation_p.M47I|RAMP3_ENST00000496212.1_Missense_Mutation_p.M47I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	47					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGCAGACATGATGGGCAAGG	0.617000													12	58					0	0	0.013537	0	0
MKL1	57591	broad.mit.edu	37	22	40819558	40819558	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:40819558G>A	ENST00000396617.3	-	9	1199	c.609C>T	c.(607-609)tcC>tcT	p.S203S	MKL1_ENST00000407029.1_Silent_p.S203S|MKL1_ENST00000402042.1_Intron|MKL1_ENST00000355630.3_Silent_p.S203S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	203	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGTGGGGGTGGACTTGGCAG	0.572000			T	RBM15	acute megakaryocytic leukemia								14	35					0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181762858	181762858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:181762858C>T	ENST00000357570.5	+	45	6121	c.5809C>T	c.(5809-5811)Cct>Tct	p.P1937S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1986S|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1967S|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1986					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCTACCTTCCTTCGGACAC	0.507000													6	9					0	0	0.001984	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100318	121100318	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:121100318C>T	ENST00000273666.6	+	23	2869	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S	STXBP5L_ENST00000471454.1_Silent_p.S842S|STXBP5L_ENST00000497029.1_Silent_p.S840S|STXBP5L_ENST00000492541.1_Silent_p.S866S|STXBP5L_ENST00000472879.1_Silent_p.S842S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	866					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAATCATCTCCTTAAACCTAC	0.413000													21	89					0	0	0.014323	0	0
PGK2	5232	broad.mit.edu	37	6	49754580	49754580	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:49754580G>A	ENST00000304801.3	-	1	473	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	107					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGTTGGCACAGGCTTTCTCCA	0.507000													21	48					0	0	0.002780	0	0
HAO1	54363	broad.mit.edu	37	20	7895041	7895041	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:7895041C>T	ENST00000378789.3	-	3	366	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	105	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACTCAACATCATGCCCGTTC	0.517000													10	28					0	0	0.010729	0	0
OR4D5	219875	broad.mit.edu	37	11	123811257	123811257	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:123811257C>T	ENST00000307033.2	+	1	1008	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TATTGGTCCCCTGGAGCACAG	0.498000													10	40					0	0	0.008291	0	0
SERHL	94009	broad.mit.edu	37	22	42905114	42905114	+	RNA	SNP	C	C	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:42905114C>G	ENST00000359906.2	+	0	695					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						TCCTGTTGATCAAGTGAGTCT	0.577000													9	52					0	0	0.004482	0	0
ACE	1636	broad.mit.edu	37	17	61555443	61555443	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61555443T>C	ENST00000290866.4	+	2	425	c.401T>C	c.(400-402)cTg>cCg	p.L134P	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L134P|ACE_ENST00000538928.1_Missense_Mutation_p.L134P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	134	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCTGCCCCTGGCTAAGCGG	0.677000													4	8					0	0	0.000602	0	0
PPM1G	5496	broad.mit.edu	37	2	27610020	27610020	+	Silent	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27610020A>G	ENST00000344034.4	-	2	390	c.126T>C	c.(124-126)gcT>gcC	p.A42A	PPM1G_ENST00000350803.4_Silent_p.A42A	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	42					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TACAGTTGTGAGCATCCTAGG	0.438000													3	20					0	0	0.009096	0	0
UNC5D	137970	broad.mit.edu	37	8	35425736	35425736	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:35425736G>A	ENST00000287272.2	+	3	463	c.443G>A	c.(442-444)aGg>aAg	p.R148K	UNC5D_ENST00000404895.2_Missense_Mutation_p.R148K|UNC5D_ENST00000453357.2_Missense_Mutation_p.R143K|UNC5D_ENST00000416672.1_Missense_Mutation_p.R148K|UNC5D_ENST00000420357.1_Missense_Mutation_p.R148K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	148	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity	p.R143M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCAAGAGCAGGAAGGCCTCT	0.507000													20	53					0	0	0.010504	0	0
OR8B8	26493	broad.mit.edu	37	11	124310859	124310859	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:124310859C>T	ENST00000328064.2	-	1	195	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		AGCCCAGGTTCCCCACCACAG	0.488000													25	44					0	0	0.004656	0	0
FAM71B	153745	broad.mit.edu	37	5	156590262	156590262	+	Silent	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156590262T>A	ENST00000302938.4	-	2	1109	c.1014A>T	c.(1012-1014)tcA>tcT	p.S338S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	338						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATACCCTCTGAGGATATGT	0.572000													106	333					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78401099	78401099	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:78401099C>T	ENST00000397909.2	+	8	1954	c.1781C>T	c.(1780-1782)tCt>tTt	p.S594F	NAV3_ENST00000266692.7_Missense_Mutation_p.S594F|NAV3_ENST00000536525.2_Missense_Mutation_p.S594F|NAV3_ENST00000228327.6_Missense_Mutation_p.S594F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	594						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCTCCTTCTGGTTCCTGT	0.522000										HNSCC(70;0.22)			30	77					0	0	0.008361	0	0
C15orf39	56905	broad.mit.edu	37	15	75500361	75500361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:75500361C>T	ENST00000360639.2	+	2	2292	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	C15orf39_ENST00000394987.4_Missense_Mutation_p.R658C|C15orf39_ENST00000567617.1_Missense_Mutation_p.R658C			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	658										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGATCCTCCGTCCGGCACC	0.622000													17	45					0	0	0.006122	0	0
TBCE	6905	broad.mit.edu	37	1	235543451	235543451	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:235543451C>T	ENST00000543662.1	+	2	193	c.87C>T	c.(85-87)gtC>gtT	p.V29V	TBCE_ENST00000406207.1_Silent_p.V29V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.V29V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	29	CAP-Gly.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CTGGTGTTGTCCCTCCCGTGG	0.438000													8	15					0	0	0.006214	0	0
RBP3	5949	broad.mit.edu	37	10	48389649	48389649	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:48389649C>T	ENST00000224600.4	-	1	1342	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	410	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGGCCACCCCTGGTGAGTC	0.657000													10	18					0	0	0.010729	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443983	5443983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5443983G>A	ENST00000300778.4	+	1	643	c.553G>A	c.(553-555)Gat>Aat	p.D185N	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCACCAGGATATGATCCG	0.512000													46	108					0	0	0.014410	0	0
DLG4	1742	broad.mit.edu	37	17	7096426	7096426	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:7096426C>T	ENST00000399510.2	-	19	2685	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	DLG4_ENST00000302955.6_Silent_p.R565R|DLG4_ENST00000399506.2_Silent_p.R568R	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	568	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCCGCTTGGGCCGTGTCGTAT	0.532000													25	93					0	0	0.004656	0	0
ITGA5	3678	broad.mit.edu	37	12	54799034	54799034	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:54799034G>A	ENST00000293379.4	-	12	1402	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	381					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTGAGGGTAAGGGTGGGCGTG	0.637000													13	44					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9061148	9061148	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:9061148G>A	ENST00000397910.4	-	3	26501	c.26298C>T	c.(26296-26298)tcC>tcT	p.S8766S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8768	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTTCCGTGGAGATTTCTG	0.507000													20	53					0	0	0.003330	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709329	128709329	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:128709329C>T	ENST00000392665.2	-	2	954	c.810G>A	c.(808-810)caG>caA	p.Q270Q	KCNJ1_ENST00000392666.1_Silent_p.Q270Q|KCNJ1_ENST00000324036.3_Silent_p.Q270Q|KCNJ1_ENST00000392664.2_Silent_p.Q289Q|KCNJ1_ENST00000440599.2_Silent_p.Q270Q	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	289					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTCAAAGTCCTGCTGGAGAA	0.483000													7	25					0	0	0.004482	0	0
OR6C70	390327	broad.mit.edu	37	12	55863458	55863458	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:55863458G>A	ENST00000327335.4	-	1	464	c.465C>T	c.(463-465)ttC>ttT	p.F155F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TCAGTGGAGTGAAAATGATCA	0.368000													11	29					0	0	0.010729	0	0
MMP17	4326	broad.mit.edu	37	12	132329987	132329987	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:132329987C>T	ENST00000360564.1	+	8	1299	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Silent_p.F315F	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	399	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		AGATCGTCTTCTTTAAAGGTG	0.672000													5	18					0	0	0.000602	0	0
FKBP8	23770	broad.mit.edu	37	19	18648543	18648543	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:18648543C>T	ENST00000597960.2	-	6	933	c.813G>A	c.(811-813)ttG>ttA	p.L271L	FKBP8_ENST00000596558.1_Silent_p.L270L|FKBP8_ENST00000453489.2_Silent_p.L299L|FKBP8_ENST00000222308.3_Silent_p.L271L|FKBP8_ENST00000544835.2_Silent_p.L111L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	270					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTTCACCTTCAACTGCAGGA	0.642000													10	33					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13792187	13792187	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:13792187G>A	ENST00000265104.4	-	50	8468	c.8364C>T	c.(8362-8364)ttC>ttT	p.F2788F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2788	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACATAATGGAATTTTGCAG	0.443000									Kartagener syndrome				11	22					0	0	0.013537	0	0
HPR	3250	broad.mit.edu	37	16	72110817	72110817	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:72110817G>A	ENST00000540303.2	+	5	916	c.884G>A	c.(883-885)gGc>gAc	p.G295D	HPR_ENST00000228226.8_Missense_Mutation_p.G332D|HPR_ENST00000356967.5_Missense_Mutation_p.G295D|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	295	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ACCTGCTATGGCGATGCGGGC	0.557000													19	38					0	0	0.008871	0	0
SUN2	25777	broad.mit.edu	37	22	39135782	39135782	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:39135782G>A	ENST00000405510.1	-	14	1881	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	SUN2_ENST00000405018.1_Missense_Mutation_p.A529V|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.A497V|SUN2_ENST00000406622.1_Missense_Mutation_p.A508V|SUN2_ENST00000216064.4_Missense_Mutation_p.A508V	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	508					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CAGGGAGGCCGCGGCTTCCCT	0.612000													19	53					0	0	0.010504	0	0
ENTPD1	953	broad.mit.edu	37	10	97604314	97604314	+	Silent	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:97604314T>C	ENST00000371203.5	+	4	668	c.81T>C	c.(79-81)ggT>ggC	p.G27G	ENTPD1_ENST00000371207.3_Silent_p.G177G|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Silent_p.G165G|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.G27G|ENTPD1_ENST00000453258.2_Silent_p.G172G|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.G57G	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	165					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACTTCCAGGGTGCCAGGATCA	0.498000													35	79					0	0	0.004878	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260045	71260045	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:71260045C>T	ENST00000528743.2	+	1	580	c.342C>T	c.(340-342)ccC>ccT	p.P114P		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	114	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCTGTAAGCCCTGTTGCTCCT	0.617000													27	84					0	0	0.004656	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228284	140228284	+	Silent	SNP	C	C	T	rs71588635		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140228284C>T	ENST00000378122.3	+	1	928	c.204C>T	c.(202-204)tcC>tcT	p.S68S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S68S|PCDHA5_ENST00000529859.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGATTCCAAAGGCCGCG	0.637000													26	89					0	0	0.004656	0	0
KRT8	3856	broad.mit.edu	37	12	53291219	53291219	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53291219G>A	ENST00000552551.1	-	9	1877	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	KRT8_ENST00000552150.1_Missense_Mutation_p.P510L|KRT8_ENST00000546897.1_Missense_Mutation_p.P482L|KRT8_ENST00000293308.6_Missense_Mutation_p.P482L			P05787	K2C8_HUMAN	keratin 8	482	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCACTTGGGCAGGACGTC	0.637000													15	49					0	0	0.004990	0	0
OR1D2	4991	broad.mit.edu	37	17	2996197	2996197	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:2996197G>A	ENST00000331459.1	-	1	93	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	32					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TACATGGACAGGAACATCCAA	0.552000													29	54					0	0	0.007291	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:48346753C>T	ENST00000319856.4	+	1	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000													6	69					0	0	0.001168	0	0
RBFOX1	54715	broad.mit.edu	37	16	7714947	7714947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:7714947G>A	ENST00000340209.4	+	10	1219	c.922G>A	c.(922-924)Gga>Aga	p.G308R	RBFOX1_ENST00000547372.1_Missense_Mutation_p.G346R|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G303R|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G303R|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G346R|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G276R|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G320R|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G260R			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTACCAGGATGGATTTTATGG	0.438000													27	94					0	0	0.009535	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997014	62997014	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:62997014C>T	ENST00000306494.6	-	1	110	c.111G>A	c.(109-111)ctG>ctA	p.L37L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	37					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CGAAGTTCTCCAGCTGAGTTT	0.473000													14	63					0	0	0.001855	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045867	26045867	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:26045867C>A	ENST00000540144.1	+	1	229	c.229C>A	c.(229-231)Cag>Aag	p.Q77K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	77					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGAAATCGCCCAGGACTTCAA	0.617000													9	38					0.000673444	0.00176757	0.008291	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157834	26157834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:26157834G>A	ENST00000325250.1	+	2	919	c.732G>A	c.(730-732)atG>atA	p.M244I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	244	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGAAGGTCATGACCAAAGATT	0.512000													4	12					0	0	0.000602	0	0
FCAR	2204	broad.mit.edu	37	19	55401052	55401052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55401052C>T	ENST00000391723.3	+	4	577	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	FCAR_ENST00000391724.3_Silent_p.I195I|FCAR_ENST00000355524.3_Silent_p.I229I|FCAR_ENST00000345937.4_Silent_p.I133I|FCAR_ENST00000391726.3_Silent_p.I121I|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.I217I|FCAR_ENST00000353758.4_Silent_p.I120I|FCAR_ENST00000391725.3_Silent_p.I207I	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGAACTTGATCCGCATGGCCG	0.532000													63	307					0	0	0.014410	0	0
CIT	11113	broad.mit.edu	37	12	120135790	120135790	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:120135790G>A	ENST00000392521.2	-	45	5748	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S1856F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1856					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCCTGCTGAGGAGCGTGCCTG	0.527000													41	109					0	0	0.013114	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234338	54234338	+	RNA	SNP	T	T	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:54234338T>G	ENST00000385068.1	+	0	79					NR_030210.1																						TGGATTACGGTTTGAGAAAAA	0.478000													13	54					0	0	0.013537	0	0
OR52E6	390078	broad.mit.edu	37	11	5862975	5862975	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5862975G>A	ENST00000329322.5	-	1	152	c.153C>T	c.(151-153)atC>atT	p.I51I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.I55I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAGTTTGGATCACAAAGA	0.478000													16	47					0	0	0.006122	0	0
ASL	435	broad.mit.edu	37	7	65547372	65547372	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:65547372C>T	ENST00000304874.9	+	4	327	c.225C>T	c.(223-225)gcC>gcT	p.A75A	ASL_ENST00000380839.4_Silent_p.A75A|ASL_ENST00000395332.3_Silent_p.A75A|ASL_ENST00000395331.3_Silent_p.A75A	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	75					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	AGGAGTGGGCCCAGGGCACCT	0.617000													10	31					0	0	0.010729	0	0
ISL1	3670	broad.mit.edu	37	5	50685521	50685521	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:50685521G>A	ENST00000230658.7	+	4	1105	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	ISL1_ENST00000511384.1_Missense_Mutation_p.V174I|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	174					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCGGCCCCACGTCCACAAGCA	0.721000													9	19					0	0	0.008291	0	0
THSD7B	80731	broad.mit.edu	37	2	138413086	138413086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:138413086G>A	ENST00000409968.1	+	22	4139	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1293K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1324K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGACTGTGGGGAAGGAGTTCA	0.478000													5	11					0	0	0.001984	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83419362	83419362	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:83419362C>T	ENST00000262752.2	-	2	122	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E39K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	39					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCTCCCTCTTCCATTGGCTCA	0.299000													14	30					0	0	0.004007	0	0
DOPEY1	23033	broad.mit.edu	37	6	83838630	83838630	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:83838630C>T	ENST00000349129.2	+	16	2004	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P573S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P563S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	582					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATGAAAATCCTACTGAAGT	0.358000													13	29					0	0	0.001855	0	0
OR10H3	26532	broad.mit.edu	37	19	15852388	15852388	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:15852388C>T	ENST00000305892.1	+	1	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCATGTACCTCTTCTTGTGTG	0.507000													45	184					0	0	0.014410	0	0
NDST4	64579	broad.mit.edu	37	4	115858653	115858653	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:115858653C>T	ENST00000264363.2	-	5	1906	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	410	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTGGTATTCCATGTTCCTAA	0.433000													6	18					0	0	0.001168	0	0
BCL9	607	broad.mit.edu	37	1	147091450	147091450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:147091450C>T	ENST00000234739.3	+	8	2229	c.1489C>T	c.(1489-1491)Ctc>Ttc	p.L497F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	497	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCAGTGTTCCCTCCAGGACAT	0.587000			T	"""IGH@, IGL@"""	B-ALL								23	85					0	0	0.003954	0	0
ASTN2	23245	broad.mit.edu	37	9	119903635	119903635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:119903635C>T	ENST00000313400.4	-	4	1238	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.G380R			O75129	ASTN2_HUMAN	astrotactin 2	380						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTCCTCTTCCCTGCCGATGTG	0.577000													9	29					0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92087984	92087984	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:92087984G>A	ENST00000298047.6	+	1	2723	c.2706G>A	c.(2704-2706)ttG>ttA	p.L902L	FAT3_ENST00000525166.1_Silent_p.L752L|FAT3_ENST00000409404.2_Silent_p.L902L|FAT3_ENST00000541502.1_Silent_p.L902L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	902	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTATTCTTTGAAAATAGAAG	0.438000										TCGA Ovarian(4;0.039)			114	326					0	0	0.014410	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048123	4048123	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:4048123G>A	ENST00000322357.4	-	3	1660	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.T461M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	461					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGGCCCGTGTGCACGCG	0.647000													23	45					0	0	0.012319	0	0
LRRC18	474354	broad.mit.edu	37	10	50121815	50121815	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:50121815C>T	ENST00000374160.3	-	1	462	c.386G>A	c.(385-387)gGc>gAc	p.G129D	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.G129D|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	129						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTTCAAGCCTAGGTTCAC	0.602000													7	10					0	0	0.001984	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915071	80915071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:80915071G>A	ENST00000576599.1	-	10	1333	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.H306Y			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	306							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GAGTCCTCGTGGCAATAGAAG	0.632000													51	68					0	0	0.014410	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163695	32163695	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:32163695C>G	ENST00000375023.3	-	30	5669	c.5531G>C	c.(5530-5532)cGg>cCg	p.R1844P	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1844					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGACACCGTCCGTGCGCGCGG	0.731000													25	77					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13766132	13766132	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:13766132C>T	ENST00000265104.4	-	59	10158	c.10054G>A	c.(10054-10056)Gaa>Aaa	p.E3352K	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3352	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTAAGGATTCCTGCCAGGAG	0.448000									Kartagener syndrome				27	70					0	0	0.005443	0	0
ZNF529	57711	broad.mit.edu	37	19	37037968	37037968	+	Silent	SNP	T	T	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:37037968T>G	ENST00000334116.7	-	6	1787	c.1177A>C	c.(1177-1179)Aga>Cga	p.R393R	ZNF529_ENST00000591340.1_Silent_p.R498R	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					GTATGAATTCTCTGATGTTCT	0.398000													8	22					0	0	0.003080	0	0
DPH7	92715	broad.mit.edu	37	9	140458908	140458908	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:140458908G>A	ENST00000277540.2	-	8	1084	c.927C>T	c.(925-927)atC>atT	p.I309I	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		GGCAGTTGAGGATCTTAAAGC	0.627000													6	22					0	0	0.001168	0	0
HP	3240	broad.mit.edu	37	16	72094728	72094728	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:72094728G>A	ENST00000355906.5	+	7	1218	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	HP_ENST00000398131.2_Missense_Mutation_p.G328D|HP_ENST00000562526.1_3'UTR|HP_ENST00000570083.1_Missense_Mutation_p.G328D|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Missense_Mutation_p.G328D	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	387	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCTGAGTATGGTGTGTATGTG	0.527000													30	73					0	0	0.007291	0	0
COL4A3	1285	broad.mit.edu	37	2	228118856	228118856	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:228118856G>A	ENST00000396578.3	+	14	956	c.794G>A	c.(793-795)gGa>gAa	p.G265E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	265	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACAAGGGAGCAATGGGC	0.423000													17	61					0	0	0.010504	0	0
ADM2	79924	broad.mit.edu	37	22	50921076	50921076	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50921076G>A	ENST00000395738.2	+	2	483	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	ADM2_ENST00000395737.1_Missense_Mutation_p.R64Q|ADM2_ENST00000362068.2_5'UTR	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	64					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGCTTCACCGGGCCCTCCAG	0.706000													3	5					0	0	0.004672	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725195	140725195	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140725195T>G	ENST00000253812.6	+	1	1595	c.1595T>G	c.(1594-1596)gTg>gGg	p.V532G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTACTGGTGACAGCCAGC	0.572000													17	98					0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10299903	10299903	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10299903C>T	ENST00000403437.2	-	32	4589	c.4495G>A	c.(4495-4497)Gaa>Aaa	p.E1499K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1499					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTAGCGTTTCGAGTTGATCC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	23					0	0	0.003080	0	0
REG1B	5968	broad.mit.edu	37	2	79312666	79312666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:79312666G>A	ENST00000305089.3	-	5	465	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	129	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCACTGCTCGGGGATCCAGTG	0.562000													14	55					0	0	0.004990	0	0
IGSF21	84966	broad.mit.edu	37	1	18703297	18703297	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:18703297G>A	ENST00000251296.1	+	8	1488	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	369	Ig-like 2.			E -> G (in Ref. 1; BAC11542).		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)		CCAACAGAACGAAGTCTTCCC	0.657000													11	13					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179584174	179584174	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179584174C>T	ENST00000589042.1	-	83	24167	c.23943G>A	c.(23941-23943)cgG>cgA	p.R7981R	TTN_ENST00000591111.1_Silent_p.R7664R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R6737R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7664	Ig-like 62.						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)			GAGGCACAATCCGATCTATGT	0.473000													17	59					0	0	0.006122	0	0
BRINP1	1620	broad.mit.edu	37	9	121929537	121929537	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:121929537T>A	ENST00000265922.3	-	8	2572	c.2111A>T	c.(2110-2112)aAt>aTt	p.N704I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		704					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCCAGGCGATTAATTCGGTC	0.557000													11	61					0	0	0.010729	0	0
CADM3	57863	broad.mit.edu	37	1	159163260	159163260	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:159163260G>A	ENST00000368125.4	+	4	587	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CADM3_ENST00000368124.4_Missense_Mutation_p.E178K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	144	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTCATTACGGGAAAAAGACAC	0.537000													19	48					0	0	0.010504	0	0
GEM	2669	broad.mit.edu	37	8	95265294	95265294	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:95265294C>T	ENST00000297596.2	-	3	642	c.378G>A	c.(376-378)acG>acA	p.T126T	GEM_ENST00000396194.2_Silent_p.T126T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	126					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGAGTATAATCGTTGCACTTT	0.418000													32	49					0	0	0.004878	0	0
COL17A1	1308	broad.mit.edu	37	10	105800156	105800156	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:105800156G>T	ENST00000353479.5	-	40	3004	c.2714C>A	c.(2713-2715)tCc>tAc	p.S905Y	COL17A1_ENST00000369733.3_Missense_Mutation_p.S905Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	905	Triple-helical region.			S -> F (in Ref. 1; AAA35605 and 2; AAB51499).	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.S905F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGGGGCCGGAGAGGAAGGT	0.532000													23	44					6.21321e-17	1.67022e-16	0.002780	1	0
DISC1	27185	broad.mit.edu	37	1	231830097	231830097	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:231830097C>T	ENST00000439617.2	+	2	646	c.593C>T	c.(592-594)aCc>aTc	p.T198I	DISC1_ENST00000317586.4_Missense_Mutation_p.T198I|DISC1_ENST00000366636.4_Missense_Mutation_p.T198I|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.T198I|DISC1_ENST00000366633.3_Missense_Mutation_p.T198I|DISC1_ENST00000539444.1_Missense_Mutation_p.T198I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.T198I|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.T198I	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	198	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GTCCCCCCAACCCCTCCTGGC	0.612000													13	38					0	0	0.003163	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088240	17088240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:17088240C>T	ENST00000443236.1	-	15	1868	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	566						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTCCATTCTCCCTGACGTAG	0.592000													14	50					0	0	0.004990	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166099	140166099	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:140166099T>G	ENST00000504120.2	+	1	224	c.224T>G	c.(223-225)cTg>cGg	p.L75R	PCDHA1_ENST00000378133.3_Missense_Mutation_p.L75R|PCDHA1_ENST00000394633.3_Missense_Mutation_p.L75R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGACCTTCTGGAGGTAAAT	0.597000													20	61					0	0	0.012319	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869685	50869685	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50869685C>T	ENST00000359139.3	+	11	1603	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	PPP6R2_ENST00000395741.3_Silent_p.A404A|PPP6R2_ENST00000395744.3_Silent_p.A403A|PPP6R2_ENST00000216061.5_Silent_p.A403A	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	403						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCCACGCTGCCCGTGAGGAGA	0.577000													27	50					0	0	0.003954	0	0
NTN4	59277	broad.mit.edu	37	12	96131685	96131685	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:96131685G>A	ENST00000343702.4	-	3	1271	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.H275Y|NTN4_ENST00000344911.4_Missense_Mutation_p.H238Y|NTN4_ENST00000538383.1_Missense_Mutation_p.H238Y	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	275	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGAAGCCATGAACAGGTATG	0.453000													22	40					0	0	0.002780	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:24884614C>T	ENST00000382554.3	+	9	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCATTTTTCCCGCTGCATT	0.637000													21	32					0	0	0.008871	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	59					0	0	0.000602	0	0
PTEN	5728	broad.mit.edu	37	10	89711876	89711876	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:89711876G>A	ENST00000371953.3	+	6	1851	c.492_splice	c.e6-1	p.G165_splice		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	165	Phosphatase tensin-type.		G -> E (in CD).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|G -> V (in CD).		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.G165E(6)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.G165V(1)|p.G165del(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)		GTCCACCAGGGAGTAACTATT	0.368000		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)			17	34					0	0	0.006122	0	0
PRX	57716	broad.mit.edu	37	19	40901099	40901099	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:40901099C>T	ENST00000324001.7	-	7	3430	c.3160G>A	c.(3160-3162)Ggg>Agg	p.G1054R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1054					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCACCCTCCCATCCCAGCCC	0.612000													8	23					0	0	0.004482	0	0
ADAM29	11086	broad.mit.edu	37	4	175897457	175897457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:175897457G>A	ENST00000359240.3	+	5	1451	c.781G>A	c.(781-783)Gat>Aat	p.D261N	ADAM29_ENST00000404450.4_Missense_Mutation_p.D261N|ADAM29_ENST00000514159.1_Missense_Mutation_p.D261N|ADAM29_ENST00000445694.1_Missense_Mutation_p.D261N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	261	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAGTAGATGATGTAAGGAA	0.388000													25	45					0	0	0.003954	0	0
MYH4	4622	broad.mit.edu	37	17	10362600	10362600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10362600C>T	ENST00000255381.2	-	15	1665	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	519	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCAGCCAGGTCCATCCCGAAG	0.468000													14	56					0	0	0.006122	0	0
LPO	4025	broad.mit.edu	37	17	56326423	56326423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:56326423C>T	ENST00000262290.4	+	5	644	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	LPO_ENST00000543544.1_Missense_Mutation_p.P51S|LPO_ENST00000421678.2_Missense_Mutation_p.P27S|LPO_ENST00000582328.1_Missense_Mutation_p.P27S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	110					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTTTCAGATCCCAGCCTGGA	0.577000													33	142					0	0	0.004289	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr21:42080489G>A	ENST00000400454.1	-	2	729	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000													18	46					0	0	0.007413	0	0
AMHR2	269	broad.mit.edu	37	12	53818965	53818965	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53818965G>A	ENST00000257863.4	+	4	521	c.441G>A	c.(439-441)atG>atA	p.M147I	AMHR2_ENST00000379791.3_Missense_Mutation_p.M147I|AMHR2_ENST00000550311.1_Missense_Mutation_p.M147I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	147					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCATCTGGATGGCACTGGTGC	0.587000													25	67					0	0	0.009535	0	0
MYO18B	84700	broad.mit.edu	37	22	26168458	26168458	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:26168458C>T	ENST00000335473.7	+	7	2100	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L	MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	617	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGGGCCCTCGGTGCCTTCT	0.642000													5	26					0	0	0.000602	0	0
TMEM74	157753	broad.mit.edu	37	8	109797318	109797318	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:109797318G>A	ENST00000297459.3	-	2	188	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	4					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCAAGGTAGTGGAGCTCCATG	0.527000													6	54					0	0	0.001984	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95515008	95515008	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:95515008C>T	ENST00000432432.2	-	0	649					NR_040113.1																						CCACCATTTTCTCTTTCTTGC	0.303000													29	140					0	0	0.006230	0	0
HBE1	3046	broad.mit.edu	37	11	5291094	5291094	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:5291094C>T	ENST00000380237.1	-	3	371	c.27G>A	c.(25-27)aaG>aaA	p.K9K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.K9K			P02100	HBE_HUMAN	hemoglobin, epsilon 1	9					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACGGCAGCCTTCTCCTCAG	0.532000													14	43					0	0	0.004007	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417258	89417258	+	RNA	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:89417258G>A	ENST00000490686.1	-	0	77																											CCTTACCTGGGAACCAGAGCA	0.507000													7	169					0	0	0.004482	0	0
CLIC5	53405	broad.mit.edu	37	6	45870870	45870870	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:45870870G>A	ENST00000185206.6	-	6	1340	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLIC5_ENST00000339561.6_Silent_p.I237I	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	396	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGCCAACTCGATCTCACTGT	0.567000													14	34					0	0	0.002450	0	0
PAX9	5083	broad.mit.edu	37	14	37145435	37145435	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:37145435T>A	ENST00000554201.1	+	3	1113	c.233T>A	c.(232-234)tTg>tAg	p.L78*	PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.F268L|PAX9_ENST00000361487.6_Missense_Mutation_p.F268L			P55771	PAX9_HUMAN	paired box 9	0	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TGGGCAGTTTTGTGTCAGCAT	0.478000													23	34					0	0	0.004656	0	0
ZNF208	7757	broad.mit.edu	37	19	22156029	22156029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:22156029G>A	ENST00000397126.4	-	4	1955	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACCAGTATGAATTCTCTTA	0.358000													9	23					0	0	0.006214	0	0
DISP1	84976	broad.mit.edu	37	1	223116276	223116276	+	Silent	SNP	C	C	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:223116276C>A	ENST00000284476.6	+	2	275	c.111C>A	c.(109-111)gcC>gcA	p.A37A	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.A37A	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	37					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCATGCAGCCCAGCAGCTCA	0.498000													20	437					8.34094e-07	2.21245e-06	0.008871	1	0
LMTK2	22853	broad.mit.edu	37	7	97822385	97822385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:97822385C>T	ENST00000297293.5	+	11	2901	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	870					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGTTGAAATTCTCTCAACTGA	0.547000													14	29					0	0	0.001855	0	0
POP1	10940	broad.mit.edu	37	8	99168559	99168559	+	Missense_Mutation	SNP	C	C	T	rs149744031	byFrequency	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:99168559C>T	ENST00000401707.2	+	15	2420	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	POP1_ENST00000349693.3_Missense_Mutation_p.S780L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	780					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGTCAAGAATCGGCAGGGCCT	0.542000													41	88					0	0	0.013114	0	0
OR6F1	343169	broad.mit.edu	37	1	247875287	247875287	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:247875287G>A	ENST00000302084.2	-	1	818	c.771C>T	c.(769-771)ttC>ttT	p.F257F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GGACGTGAAGGAAAACTGTGG	0.527000													17	42					0	0	0.004007	0	0
AMER1	139285	broad.mit.edu	37	X	63410334	63410334	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:63410334G>A	ENST00000330258.3	-	2	3105	c.2833C>T	c.(2833-2835)Ccc>Tcc	p.P945S	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AGGGAAAGGGGACTGTCTCGG	0.592000													11	31					0	0	0.013537	0	0
TUBB3	10381	broad.mit.edu	37	16	90001825	90001825	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:90001825C>T	ENST00000304984.5	+	3	3045	c.750C>T	c.(748-750)tcC>tcT	p.S250S	TUBB3_ENST00000556922.1_Silent_p.S669S|TUBB3_ENST00000315491.7_Silent_p.S322S|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.S250S			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	322					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCGCATGTCCATGAAGGAGG	0.617000													21	49					0	0	0.010504	0	0
SVEP1	79987	broad.mit.edu	37	9	113169591	113169591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:113169591C>T	ENST00000401783.2	-	38	8625	c.8289G>A	c.(8287-8289)tgG>tgA	p.W2763*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W689*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2740*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2763	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGCACCACTCCACTTTCTAT	0.463000													21	66					0	0	0.008871	0	0
SCN1A	6323	broad.mit.edu	37	2	166848050	166848050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:166848050C>T	ENST00000423058.2	-	26	5752	c.5735G>A	c.(5734-5736)cGa>cAa	p.R1912Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.R1884Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1901Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1912Q|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTTGTTTTCGTTTTAAAGT	0.413000													12	47					0	0	0.013537	0	0
OR2A2	442361	broad.mit.edu	37	7	143807498	143807498	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:143807498C>T	ENST00000408979.2	+	1	892	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AATGCTGTCCCTGTTTCACAG	0.512000													34	65					0	0	0.011902	0	0
RAD51C	5889	broad.mit.edu	37	17	56787259	56787259	+	Missense_Mutation	SNP	C	C	T	rs28363311		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:56787259C>T	ENST00000337432.4	+	5	816	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	RAD51C_ENST00000583539.1_Missense_Mutation_p.R249C	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	249			R -> C (in dbSNP:rs28363311).		blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.R249C(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTCCATTTCGTCATGACCT	0.333000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				48	74					0	0	0.014410	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:151124224G>A	ENST00000370325.1	-	7	946	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_ENST00000370328.3_Missense_Mutation_p.S298F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	298					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)					GATCCAAAAGGAAACCCAGGA	0.512000													24	45					0	0	0.002780	0	0
DISC1	27185	broad.mit.edu	37	1	231830098	231830098	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:231830098C>T	ENST00000439617.2	+	2	647	c.594C>T	c.(592-594)acC>acT	p.T198T	DISC1_ENST00000317586.4_Silent_p.T198T|DISC1_ENST00000366636.4_Silent_p.T198T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Silent_p.T198T|DISC1_ENST00000366633.3_Silent_p.T198T|DISC1_ENST00000539444.1_Silent_p.T198T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.T198T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.T198T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	198	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCCCCCCAACCCCTCCTGGCT	0.612000													12	37					0	0	0.002450	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926642	106926642	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:106926642C>T	ENST00000434710.1	-	0	82																											GTCCAAACTCCATGGTGCGTT	0.498000													22	48					0	0	0.003330	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436782	99436782	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:99436782G>A	ENST00000354829.2	+	3	308	c.205G>A	c.(205-207)Gga>Aga	p.G69R	CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000417625.1_Silent_p.T109T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000421837.2_Missense_Mutation_p.G69R|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G69R|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G69R|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	69			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TGAAAAATACGGAGAAATGTG	0.368000													14	54					0	0	0.002450	0	0
KRT1	3848	broad.mit.edu	37	12	53072496	53072496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53072496C>T	ENST00000252244.3	-	2	694	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	212	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GCAGCAGCTCCCATTTTGTTT	0.468000													10	43					0	0	0.008291	0	0
SYMPK	8189	broad.mit.edu	37	19	46355638	46355638	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:46355638G>A	ENST00000245934.7	-	5	475	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	77	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGAATGCGATGATCTCCTGCC	0.527000													28	60					0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38825334	38825334	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:38825334C>T	ENST00000359357.3	+	40	5377	c.5123C>T	c.(5122-5124)tCa>tTa	p.S1708L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S1925L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1708L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACACGATTCAGAAGAGGCT	0.348000													8	36					0	0	0.006214	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333993	28333993	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:28333993C>T	ENST00000377255.3	+	7	1845	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	ZKSCAN3_ENST00000341464.5_Silent_p.G368G|ZKSCAN3_ENST00000252211.2_Silent_p.G516G	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	516					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTGGAAAAGGCTTCACCCGAA	0.433000													16	39					0	0	0.003163	0	0
ARSH	347527	broad.mit.edu	37	X	2933366	2933366	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:2933366C>T	ENST00000381130.2	+	4	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	232						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATGAAATTATCCAGCAGCCAA	0.428000													6	18					0	0	0.001984	0	0
SSFA2	6744	broad.mit.edu	37	2	182780777	182780777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:182780777C>T	ENST00000431877.2	+	11	2589	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S	SSFA2_ENST00000409136.1_Missense_Mutation_p.P313S|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804S|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804S|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502000													7	20					0	0	0.004482	0	0
ROCK1	6093	broad.mit.edu	37	18	18586524	18586524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:18586524G>T	ENST00000399799.1	-	16	2613	c.1673C>A	c.(1672-1674)tCg>tAg	p.S558*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	558	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.S558L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTGTGTCCGATTCTGTCCT	0.358000													19	55					3.32936e-07	8.85468e-07	0.006122	1	0
TAOK3	51347	broad.mit.edu	37	12	118588822	118588822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:118588822G>A	ENST00000392533.3	-	21	3167	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	TAOK3_ENST00000419821.2_Missense_Mutation_p.P893S|TAOK3_ENST00000543709.1_Intron|TAOK3_ENST00000536979.1_Missense_Mutation_p.P88S|TAOK3_ENST00000537952.1_Missense_Mutation_p.P433S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	893					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTTAGGAAAATCTAAT	0.338000													18	57					0	0	0.010504	0	0
NLRP13	126204	broad.mit.edu	37	19	56443602	56443602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:56443602G>A	ENST00000588751.1	-	1	100	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.Q26*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	26	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTGATACTGATCCAGGGCC	0.552000													16	52					0	0	0.007413	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814813	92814813	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:92814813C>T	ENST00000378487.2	-	3	280	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CLLU1OS_ENST00000538965.1_Silent_p.G93G	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	93										large_intestine(1)|lung(7)	8						CTTCCTTCTTCCCATCATCAT	0.428000													48	171					0	0	0.014410	0	0
RALGDS	5900	broad.mit.edu	37	9	135985749	135985749	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:135985749G>A	ENST00000393160.3	-	3	610	c.257C>T	c.(256-258)aCc>aTc	p.T86I	RALGDS_ENST00000393157.3_Missense_Mutation_p.T140I|RALGDS_ENST00000372047.3_Missense_Mutation_p.T141I|RALGDS_ENST00000372050.3_Missense_Mutation_p.T141I|RALGDS_ENST00000542690.1_Missense_Mutation_p.T212I|RALGDS_ENST00000372062.3_Missense_Mutation_p.T124I	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	141					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CAGGAAGATGGTGACGTAGGA	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								13	28					0	0	0.003163	0	0
KCNC4	3749	broad.mit.edu	37	1	110765869	110765869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:110765869C>T	ENST00000369787.3	+	2	989	c.962C>T	c.(961-963)gCc>gTc	p.A321V	KCNC4_ENST00000438661.2_Missense_Mutation_p.A321V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A321V|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	321					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACTTTGTGGCCATCCTGCCC	0.627000													12	33					0	0	0.010729	0	0
LRP1B	53353	broad.mit.edu	37	2	141739753	141739753	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:141739753G>T	ENST00000389484.3	-	18	3834	c.2863C>A	c.(2863-2865)Cag>Aag	p.Q955K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	955	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTGTCTGGTCACCACAG	0.468000										TSP Lung(27;0.18)			8	42					0.000157383	0.000414167	0.003080	1	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:98810890G>A	ENST00000477737.1	+	12	1876	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E558K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E408K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	558	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000													46	129					0	0	0.014410	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121708	90121708	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:90121708C>T	ENST00000483379.1	+	0	232																											TGCTCTGGTTCCCAGGTAAGG	0.498000													18	75					0	0	0.014323	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127842	45127842	+	RNA	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:45127842T>C	ENST00000575173.1	-	0	418																											TCCCCAACAATGTGAGAAGGC	0.527000													39	207					0	0	0.006230	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640113	176640113	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:176640113A>G	ENST00000367662.3	+	4	3163	c.1999A>G	c.(1999-2001)Atg>Gtg	p.M667V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.M667V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	667	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TAGGGCATACATGAGTGTGAA	0.483000													44	140					0	0	0.014410	0	0
COL13A1	1305	broad.mit.edu	37	10	71665557	71665557	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:71665557C>T	ENST00000356340.3	+	16	1466	c.930C>T	c.(928-930)atC>atT	p.I310I	COL13A1_ENST00000520133.1_Silent_p.I259I|COL13A1_ENST00000398978.3_Silent_p.I310I|COL13A1_ENST00000398968.3_Silent_p.I291I|COL13A1_ENST00000517713.1_Silent_p.I288I|COL13A1_ENST00000398969.3_Silent_p.I253I|COL13A1_ENST00000398973.3_Silent_p.I310I|COL13A1_ENST00000522165.1_Silent_p.I291I|COL13A1_ENST00000398964.3_Silent_p.I281I|COL13A1_ENST00000520267.1_Silent_p.I253I|COL13A1_ENST00000357811.3_Silent_p.I288I|COL13A1_ENST00000398974.3_Silent_p.I298I|COL13A1_ENST00000398966.3_Silent_p.I288I|COL13A1_ENST00000398971.3_Silent_p.I310I|COL13A1_ENST00000354547.3_Silent_p.I288I|COL13A1_ENST00000398972.3_Silent_p.I310I			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	310	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACCCAGGGATCCAGGGCTACC	0.552000													4	9					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													6	57					0	0	0.004482	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664987	16664987	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:16664987G>A	ENST00000443444.2	+	13	3761	c.3621G>A	c.(3619-3621)agG>agA	p.R1207R	CCDC144A_ENST00000399273.1_Silent_p.R1207R|CCDC144A_ENST00000360524.8_Silent_p.R1207R|CCDC144A_ENST00000456009.1_Silent_p.R973R|RP11-219A15.1_ENST00000448331.3_Silent_p.R1207R			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1207																	AAAGAGCAAGGAAGGAGATAG	0.328000													7	47					0	0	0.004482	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316099	73316099	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:73316099G>A	ENST00000258098.6	-	2	1016	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	259					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGGCTGAGGACAGGGTGCT	0.637000													11	32					0	0	0.013537	0	0
WDR59	79726	broad.mit.edu	37	16	74927577	74927577	+	Splice_Site	SNP	A	A	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:74927577A>C	ENST00000262144.6	-	19	2130	c.2000_splice	c.e19+1	p.I667_splice		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	667										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTACTTACATGTACAGCTC	0.423000													9	20					0	0	0.008291	0	0
TBL2	26608	broad.mit.edu	37	7	72985206	72985206	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:72985206G>A	ENST00000305632.5	-	7	1216	c.975C>T	c.(973-975)cgC>cgT	p.R325R	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.R289R	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	325										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTCTTCAAAGCGGCCTGTCT	0.577000													38	87					0	0	0.007835	0	0
MAP3K3	4215	broad.mit.edu	37	17	61730009	61730009	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61730009A>G	ENST00000361357.3	+	5	671	c.353A>G	c.(352-354)aAc>aGc	p.N118S	MAP3K3_ENST00000361733.3_Missense_Mutation_p.N87S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N87S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.N118S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.N118S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	87	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATTACATGAACAATGAGGTG	0.443000													4	16					0	0	0.009096	0	0
ANKS1A	23294	broad.mit.edu	37	6	34952961	34952961	+	Missense_Mutation	SNP	C	C	T	rs144301550	by1000genomes	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:34952961C>T	ENST00000360359.3	+	8	1253	c.1115C>T	c.(1114-1116)tCg>tTg	p.S372L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	372						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTGCCATTCGTTGGACAGC	0.512000													12	34					0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10440988	10440988	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:10440988G>A	ENST00000245503.5	-	15	1965	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I527I|MYH2_ENST00000532183.1_Silent_p.I527I|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	527	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACCTTCTCGATGAGCTCGA	0.428000													21	74					0	0	0.005443	0	0
TAF2	6873	broad.mit.edu	37	8	120774830	120774830	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:120774830G>A	ENST00000378164.2	-	19	2681	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	795					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTGCACGATAATAGTTA	0.318000													17	19					0	0	0.007413	0	0
CCDC63	160762	broad.mit.edu	37	12	111319097	111319097	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:111319097G>A	ENST00000308208.5	+	7	1092	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	CCDC63_ENST00000552694.1_Missense_Mutation_p.E205K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E244K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	284								p.E284K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAAAGGGAGGAAGGTACACC	0.502000													3	15					0	0	0.004672	0	0
MTUS1	57509	broad.mit.edu	37	8	17581343	17581343	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:17581343C>T	ENST00000262102.6	-	4	2512		c.e4-1		MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTAGGCTTTCCTTGGGGTTTA	0.423000													20	54					0	0	0.008871	0	0
ACE	1636	broad.mit.edu	37	17	61571304	61571304	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:61571304T>C	ENST00000577647.1	+	10	1481	c.1436T>C	c.(1435-1437)aTg>aCg	p.M479T	ACE_ENST00000490216.2_Missense_Mutation_p.M479T|ACE_ENST00000428043.1_Missense_Mutation_p.M1053T|ACE_ENST00000421982.2_Missense_Mutation_p.M299T|ACE_ENST00000290863.6_Missense_Mutation_p.M479T|ACE_ENST00000413513.3_Missense_Mutation_p.M479T|ACE_ENST00000290866.4_Missense_Mutation_p.M1053T			P12821	ACE_HUMAN	angiotensin I converting enzyme	1053	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACTTTCTGATGAAGATGGCC	0.552000													16	46					0	0	0.010504	0	0
DNAH9	1770	broad.mit.edu	37	17	11556228	11556228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:11556228C>T	ENST00000262442.3	+	14	2572	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S835F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	835	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAAGGGAATCCCTTCTTTCT	0.378000													8	33					0	0	0.006214	0	0
AUTS2	26053	broad.mit.edu	37	7	70229864	70229864	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:70229864C>T	ENST00000342771.4	+	8	1662	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	AUTS2_ENST00000406775.2_Silent_p.T447T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		tcacacccaccctccagcccc	0.652000													9	11					0	0	0.004482	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901934	186901934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:186901934C>T	ENST00000367466.3	+	8	750	c.598C>T	c.(598-600)Cga>Tga	p.R200*	PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.R140*	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	200	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGGGGGTTTCCGAGCCATGGT	0.458000													31	100					0	0	0.012213	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957823	120957823	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:120957823C>T	ENST00000273666.6	+	13	1461	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P397L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	397					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTAGTTTTCCAATCTTTGAA	0.308000													7	26					0	0	0.003080	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119627	38119627	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:38119627G>A	ENST00000406386.3	+	7	1319	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	355					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)					GATAACCCCAGAACCTCTTCT	0.582000													24	82					0	0	0.003330	0	0
PDK3	5165	broad.mit.edu	37	X	24546235	24546235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:24546235C>T	ENST00000441463.2	+	9	895	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	PDK3_ENST00000379162.4_Missense_Mutation_p.R299C	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	299	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R299C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAAATAGATCGTCTTTTTAA	0.423000													7	30					0	0	0.003080	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261547	54261547	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:54261547C>T	ENST00000408621.1	+	0	62					NR_031696.1																						GAAATCGCTTCCCTTTGGAGT	0.448000													12	58					0	0	0.013537	0	0
TRA2B	6434	broad.mit.edu	37	3	185638958	185638958	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:185638958C>A	ENST00000453386.2	-	6	931	c.656G>T	c.(655-657)cGg>cTg	p.R219L	TRA2B_ENST00000382191.4_Missense_Mutation_p.R119L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	219	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.R219L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAGTAATCCCGACGGCGAGA	0.418000													8	376					0.00307968	0.00802	0.003080	1	0
AKAP6	9472	broad.mit.edu	37	14	33291332	33291332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:33291332G>A	ENST00000280979.4	+	13	4483	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1438					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTGTAAATGGAAAAGTTGGA	0.368000													7	17					0	0	0.004482	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604234	124604234	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:124604234C>T	ENST00000368417.1	+	2	198	c.138C>T	c.(136-138)atC>atT	p.I46I	NKAIN2_ENST00000368416.1_Silent_p.I46I|NKAIN2_ENST00000546092.1_Silent_p.I46I|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Silent_p.I31I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	46						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATTATTATCGTCATTCTTG	0.348000													15	37					0	0	0.003163	0	0
OR13C4	138804	broad.mit.edu	37	9	107289106	107289106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:107289106G>A	ENST00000277216.3	-	1	384	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TATCTCAGAGGGTTACAGATG	0.448000													18	53					0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134989122	134989122	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:134989122G>A	ENST00000535938.1	+	8	941	c.774G>A	c.(772-774)atG>atA	p.M258I	SAGE1_ENST00000370709.3_Missense_Mutation_p.M258I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M258I|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	258										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGGAGAAGATGGAAAAGGGCC	0.473000													19	59					0	0	0.007413	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979209	111979209	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:111979209G>A	ENST00000374566.3	-	16	2143	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	542						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTTGTAAGGGACTTGCTGC	0.567000													24	94					0	0	0.005443	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962840	73962840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:73962840C>T	ENST00000373468.1	-	3	2203	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E518K			Q5QGS0	K2022_HUMAN	KIAA2022	518					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCATCTTCCTCTTTGGAA	0.378000													7	12					0	0	0.006214	0	0
C15orf27	123591	broad.mit.edu	37	15	76452494	76452494	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:76452494C>T	ENST00000388942.3	+	5	717	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	147						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCATTCTGTCCGTGTTCTTCT	0.507000													49	152					0	0	0.014410	0	0
MROH7	374977	broad.mit.edu	37	1	55161093	55161093	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:55161093A>G	ENST00000414150.2	+	17	3172	c.2894A>G	c.(2893-2895)tAc>tGc	p.Y965C	MROH7_ENST00000421030.2_Missense_Mutation_p.Y965C|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.Y483C|MROH7_ENST00000409996.1_Missense_Mutation_p.Y533C|MROH7_ENST00000395690.2_Missense_Mutation_p.Y965C|MROH7_ENST00000339553.5_Missense_Mutation_p.Y965C					maestro heat-like repeat family member 7																		CGCATCCTCTACCTGCTCATC	0.662000													3	7					0	0	0.009096	0	0
ZNF418	147686	broad.mit.edu	37	19	58437835	58437835	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:58437835C>G	ENST00000396147.1	-	4	2005	c.1714G>C	c.(1714-1716)Ggg>Cgg	p.G572R	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.G572R|ZNF418_ENST00000599852.1_Missense_Mutation_p.G487R|ZNF418_ENST00000425570.3_Missense_Mutation_p.G593R	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AAGAATTTCCCACATTCTCTG	0.443000													16	31					0	0	0.004007	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			36	73					0	0	0.004289	0	0
FAM71B	153745	broad.mit.edu	37	5	156590260	156590260	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156590260T>C	ENST00000302938.4	-	2	1111	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	339						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTAATACCCTCTGAGGATAT	0.567000													103	335					0	0	0.014410	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499837	90499837	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:90499837G>A	ENST00000325643.5	+	4	501	c.435G>A	c.(433-435)agG>agA	p.R145R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCCACCTGAGGAAGCTCGCTG	0.672000													9	10					0	0	0.006214	0	0
ZNF251	90987	broad.mit.edu	37	8	145947274	145947274	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:145947274C>T	ENST00000292562.7	-	5	2046	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TAGGGCTTTTCCCCAGCATGC	0.433000													32	44					0	0	0.012213	0	0
PTPRH	5794	broad.mit.edu	37	19	55715188	55715188	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55715188C>T	ENST00000376350.3	-	5	870	c.848G>A	c.(847-849)gGa>gAa	p.G283E	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	283	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTATTTACTCCGTCTTTCTC	0.488000													21	70					0	0	0.014323	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833840	101833840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:101833840G>A	ENST00000263468.8	+	6	2344	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D493N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	692							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTCCAGGGAGGATTCTATCTC	0.388000													19	60					0	0	0.008871	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747054	81747054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:81747054G>A	ENST00000550584.2	-	16	2133	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	PPFIA2_ENST00000407050.4_Missense_Mutation_p.P539L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P180L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P514L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P595L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P595L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P460L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	539										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTTTCAAAAGGGTGGCTGCT	0.393000													13	38					0	0	0.004007	0	0
DENND4A	10260	broad.mit.edu	37	15	65968786	65968786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:65968786C>T	ENST00000443035.3	-	24	4578	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E1412K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACAAACCTTCCAAGGATGCA	0.378000													9	21					0	0	0.006214	0	0
DRAM1	55332	broad.mit.edu	37	12	102295101	102295101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:102295101G>A	ENST00000258534.8	+	3	671	c.232G>A	c.(232-234)Gta>Ata	p.V78I	DRAM1_ENST00000544152.1_Missense_Mutation_p.V78I	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	78					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ATACAAAATAGTACAGAAGCA	0.393000													13	20					0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													7	51					0	0	0.004482	0	0
ADAM10	102	broad.mit.edu	37	15	58889714	58889714	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:58889714G>A	ENST00000402627.1	-	4	217	c.158C>T	c.(157-159)cCt>cTt	p.P53L	ADAM10_ENST00000396140.2_3'UTR|ADAM10_ENST00000260408.3_3'UTR|ADAM10_ENST00000561288.1_Missense_Mutation_p.P20L			O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	0					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCCCATTGTAGGCACTAGGAA	0.458000													6	35					0	0	0.001168	0	0
GPNMB	10457	broad.mit.edu	37	7	23293870	23293870	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:23293870C>T	ENST00000258733.4	+	3	601	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000381990.2_Silent_p.F102F|GPNMB_ENST00000409458.3_Silent_p.F102F|GPNMB_ENST00000453162.2_Silent_p.F102F			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	102					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACCTGATATTCCCTAGATGCC	0.473000													44	95					0	0	0.011902	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748441	68748441	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:68748441C>T	ENST00000309106.3	-	1	14	c.15G>A	c.(13-15)ttG>ttA	p.L5L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	5						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACTGCTATTCAAAGTCTGGT	0.562000													12	42					0	0	0.002450	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:57925811G>A	ENST00000574161.1	+	8	924	c.804_splice	c.e8-1	p.E269_splice	MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		269					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000													17	54					0	0	0.006122	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459793	107459793	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:107459793G>A	ENST00000409382.3	-	2	1251	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S214F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S214F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	214					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCATTTTGGAAGAGACGTT	0.637000													10	23					0	0	0.008291	0	0
TGM3	7053	broad.mit.edu	37	20	2297783	2297783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:2297783C>T	ENST00000381458.5	+	6	802	c.739C>T	c.(739-741)Cca>Tca	p.P247S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	247					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGCCGGGACCCAAGGAGCTG	0.547000													11	66					0	0	0.008291	0	0
C5orf42	65250	broad.mit.edu	37	5	37183400	37183400	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:37183400G>A	ENST00000274258.7	-	26	5113	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1628L|C5orf42_ENST00000508244.1_Missense_Mutation_p.S1628L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1628										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGATTTTTCTGATTCATAGGA	0.348000													6	21					0	0	0.001168	0	0
MYOCD	93649	broad.mit.edu	37	17	12626201	12626201	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:12626201G>A	ENST00000425538.1	+	5	491	c.291G>A	c.(289-291)atG>atA	p.M97I	MYOCD_ENST00000395988.1_Start_Codon_SNP_p.M1I|MYOCD_ENST00000343344.4_Missense_Mutation_p.M97I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	97					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGCTCAGATGAAGCTGAAAA	0.443000													25	98					0	0	0.005443	0	0
ITGB8	3696	broad.mit.edu	37	7	20421418	20421418	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:20421418C>T	ENST00000222573.3	+	6	1554	c.870C>T	c.(868-870)ctC>ctT	p.L290L	ITGB8_ENST00000537992.1_Silent_p.L155L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	290	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.L290L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGTCTCATCTCGCTCTTGATA	0.418000													27	38					0	0	0.005443	0	0
CCDC38	120935	broad.mit.edu	37	12	96311023	96311023	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:96311023G>A	ENST00000344280.3	-	4	745	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	63										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATTCTGGATGAAAAAGTAGT	0.373000													7	31					0	0	0.003080	0	0
MARCH6	10299	broad.mit.edu	37	5	10415637	10415637	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:10415637G>A	ENST00000274140.5	+	21	2136	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	MARCH6_ENST00000449913.2_Silent_p.G620G|MARCH6_ENST00000510792.1_Silent_p.G366G|MARCH6_ENST00000503788.1_Silent_p.G563G	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	668					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGGACGGGGACTGCCAAAA	0.463000													29	81					0	0	0.008361	0	0
PCBP2	5094	broad.mit.edu	37	12	53861171	53861171	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:53861171C>T	ENST00000541275.1	+	13	1430	c.881C>T	c.(880-882)tCg>tTg	p.S294L	PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000437231.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAACAAACTTCGTTATCCAGC	0.428000													4	15					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179528362	179528362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179528362G>A	ENST00000589042.1	-	171	36748	c.36524C>T	c.(36523-36525)cCt>cTt	p.P12175L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10323	Ig-like 81.						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)			ACCTTTAACAGGTGGGACTTC	0.383000													62	170					0	0	0.014410	0	0
VIL1	7429	broad.mit.edu	37	2	219305465	219305465	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:219305465G>A	ENST00000248444.5	+	19	2338	c.2250G>A	c.(2248-2250)gtG>gtA	p.V750V	VIL1_ENST00000392114.2_Silent_p.V439V	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	750	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCAAAGTGGACGTGTTCA	0.542000													25	52					0	0	0.006320	0	0
SAMD9	54809	broad.mit.edu	37	7	92733974	92733974	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:92733974C>T	ENST00000379958.2	-	3	1706	c.1437G>A	c.(1435-1437)acG>acA	p.T479T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	479						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)			GAGTAGAAATCGTCTCATTTG	0.393000													30	46					0	0	0.012213	0	0
ASS1	445	broad.mit.edu	37	9	133342128	133342128	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:133342128G>A	ENST00000372394.1	+	7	918	c.437G>A	c.(436-438)aGg>aAg	p.R146K	ASS1_ENST00000352480.5_Missense_Mutation_p.R146K|ASS1_ENST00000372393.3_Missense_Mutation_p.R146K|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	146					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCTCCCTGGAGGATGCCTGAA	0.597000													8	20					0	0	0.006214	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998241	72998241	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:72998241C>T	ENST00000322038.5	+	2	1328	c.744C>T	c.(742-744)tcC>tcT	p.S248S	TSHZ1_ENST00000580243.1_Silent_p.S293S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGAAGCGCTCCCTGATGGAGA	0.567000													19	28					0	0	0.007413	0	0
RBM25	58517	broad.mit.edu	37	14	73566427	73566427	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:73566427G>A	ENST00000261973.7	+	9	1121	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	RBM25_ENST00000525321.1_Missense_Mutation_p.R279Q|RBM25_ENST00000540173.1_Missense_Mutation_p.R279Q|RBM25_ENST00000526754.1_Missense_Mutation_p.R279Q|RBM25_ENST00000527432.1_Missense_Mutation_p.R279Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	279					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGATATCTCGAGAGATCAGC	0.363000													23	41					0	0	0.003330	0	0
OR6C74	254783	broad.mit.edu	37	12	55641155	55641155	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:55641155C>T	ENST00000343870.4	+	1	174	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTTTCTTCTCCTTTTTTTCA	0.373000													15	58					0	0	0.004007	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	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				25	26					0	0	0.004656	0	0
DSG1	1828	broad.mit.edu	37	18	28906969	28906969	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:28906969G>A	ENST00000257192.4	+	3	428		c.e3+1			NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1						calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATCGCCAAAGTAGGTATCAA	0.413000													10	49					0	0	0.010729	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406690	33406690	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:33406690C>T	ENST00000418600.2	+	10	1771	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S498F|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S557F|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	557	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTGGTCAACTCCCACTGGTGA	0.562000													23	82					0	0	0.004656	0	0
DNAJC13	23317	broad.mit.edu	37	3	132165331	132165331	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:132165331C>T	ENST00000260818.6	+	3	329	c.81C>T	c.(79-81)gtC>gtT	p.V27V	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	27							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATAAGCGTGTCTTTTCAGTTG	0.294000													11	28					0	0	0.002450	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127858	45127858	+	RNA	SNP	T	T	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:45127858T>G	ENST00000575173.1	-	0	418																											AAGGCTCATTTCTCATGTTAT	0.512000													38	201					0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:9069754G>A	ENST00000397910.4	-	3	17895	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5900	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						TCTGAGTGTGGAAATCTCTGA	0.517000													26	75					0	0	0.008361	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777798	110777798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:110777798G>A	ENST00000368919.3	-	2	542	c.476C>T	c.(475-477)cCc>cTc	p.P159L	SLC22A16_ENST00000439654.1_Missense_Mutation_p.P159L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P125L|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.P159L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	159					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATAAATAGGGGCTGGATCAG	0.443000													18	46					0	0	0.006122	0	0
MUC3A	4584	broad.mit.edu	37	7	100549633	100549633	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:100549633G>A	ENST00000379458.4	+	2	214	c.214G>A	c.(214-216)Gaa>Aaa	p.72_72insK	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGGCCACAGGGAAAATGCACC	0.577000													8	120					0	0	0.013537	0	0
NUP188	23511	broad.mit.edu	37	9	131735486	131735486	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:131735486C>T	ENST00000372577.2	+	12	1182	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	387					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTCTCTTTCGTTCTGACCT	0.502000													9	36					0	0	0.006214	0	0
GAD1	2571	broad.mit.edu	37	2	171715347	171715347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:171715347C>T	ENST00000358196.3	+	16	2105	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	519					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGGTATATTCCACAAAGCCT	0.428000													9	39					0	0	0.010729	0	0
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:36365501C>T	ENST00000221891.4	+	9	1344	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Silent_p.I378I|APLP1_ENST00000537454.2_Silent_p.I345I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	384					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGCCCTTATCAACGACCAGC	0.662000													21	74					0	0	0.004656	0	0
TENM4	26011	broad.mit.edu	37	11	78399181	78399181	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:78399181G>A	ENST00000278550.7	-	29	5640	c.5178C>T	c.(5176-5178)gtC>gtT	p.V1726V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCTCTACCTGGACATGCACTG	0.547000													39	108					0	0	0.005524	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246117	145246117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:145246117C>T	ENST00000377976.1	-	2	510	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	171										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AAAGGTCTATCGTGCTGGTCC	0.512000													18	82					0	0	0.007413	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535284	90535284	+	RNA	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:90535284G>A	ENST00000602681.1	+	0	1188																											ATGAGCCTATGGAAGATGCTG	0.577000													41	116					0	0	0.014410	0	0
TAOK3	51347	broad.mit.edu	37	12	118588821	118588821	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:118588821G>A	ENST00000392533.3	-	21	3168	c.2678C>T	c.(2677-2679)cCt>cTt	p.P893L	TAOK3_ENST00000419821.2_Missense_Mutation_p.P893L|TAOK3_ENST00000543709.1_Intron|TAOK3_ENST00000536979.1_Missense_Mutation_p.P88L|TAOK3_ENST00000537952.1_Missense_Mutation_p.P433L	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	893					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTCCTTAGGAAAATCTAA	0.338000													18	57					0	0	0.010504	0	0
ZNF676	163223	broad.mit.edu	37	19	22362910	22362910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:22362910C>T	ENST00000397121.2	-	3	1926	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.418000													7	43					0	0	0.004482	0	0
C2orf16	84226	broad.mit.edu	37	2	27801614	27801614	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27801614G>A	ENST00000408964.2	+	1	2226	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	725										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TACAAGTAGGGACTGACTTCT	0.433000													17	51					0	0	0.004990	0	0
PREX2	80243	broad.mit.edu	37	8	69104649	69104649	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:69104649G>C	ENST00000288368.4	+	37	4770	c.4493G>C	c.(4492-4494)tGt>tCt	p.C1498S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1498					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAGCTGCCTGTGCAAACACA	0.527000													3	31					0	0	0.004672	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869686	50869686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50869686C>T	ENST00000359139.3	+	11	1604	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	PPP6R2_ENST00000395741.3_Missense_Mutation_p.R405C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R404C|PPP6R2_ENST00000216061.5_Missense_Mutation_p.R404C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	404						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCACGCTGCCCGTGAGGAGAG	0.572000													27	45					0	0	0.003954	0	0
TMEM92	162461	broad.mit.edu	37	17	48356327	48356327	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:48356327C>T	ENST00000300433.3	+	5	446	c.336C>T	c.(334-336)tcC>tcT	p.S112S	TMEM92_ENST00000507382.1_Silent_p.S112S|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	112	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TCAGAGTATCCCTTTCTGCGC	0.652000													5	29					0	0	0.000602	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484004	60484004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:60484004G>A	ENST00000450662.2	+	9	879	c.808G>A	c.(808-810)Gat>Aat	p.D270N	EFCAB3_ENST00000305286.3_Missense_Mutation_p.D218N	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	218							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GAAAGAAAAGGATTTATTTAA	0.383000													6	29					0	0	0.001984	0	0
LOC440040	440040	broad.mit.edu	37	11	49597787	49597787	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:49597787C>T	ENST00000527477.1	+	0	391																											AGCTGGAACTCCTGTCCTAAA	0.473000													6	7					0	0	0.001984	0	0
OR4C13	283092	broad.mit.edu	37	11	49974628	49974628	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:49974628C>T	ENST00000555099.1	+	1	686	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGCGTGGTCATACTGTACT	0.488000													14	61					0	0	0.003163	0	0
PYDC2	152138	broad.mit.edu	37	3	191178959	191178959	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:191178959C>A	ENST00000518817.1	+	1	8	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	3	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGATGGCATCTTCTGCAGAG	0.453000													17	58					8.10497e-08	2.16133e-07	0.010504	1	0
CXCR4	7852	broad.mit.edu	37	2	136873378	136873378	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:136873378G>A	ENST00000409817.1	-	1	435	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CXCR4_ENST00000241393.3_Silent_p.F40F|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	40					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGGTGGGCAGGAAGATTTTAT	0.453000													29	56					0	0	0.006320	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180943	19180943	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:19180943A>C	ENST00000375371.3	-	3	1042	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	341					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGGGCCCCACTCGCGGAAC	0.647000													11	28					0	0	0.008291	0	0
SCAND3	114821	broad.mit.edu	37	6	28543318	28543318	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:28543318C>T	ENST00000452236.2	-	3	1781	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	388	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATCTGTACTCCCCATCAGGAT	0.343000													14	47					0	0	0.001855	0	0
FBXO40	51725	broad.mit.edu	37	3	121342139	121342139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:121342139G>A	ENST00000338040.4	+	3	2277	c.1863G>A	c.(1861-1863)tgG>tgA	p.W621*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	621	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTTGCAATGGAAGAAAAAGA	0.458000													12	43					0	0	0.013537	0	0
TTYH2	94015	broad.mit.edu	37	17	72256272	72256272	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:72256272C>T	ENST00000441391.2	+	8	1778	c.566C>T	c.(565-567)tCt>tTt	p.S189F	TTYH2_ENST00000529107.1_Missense_Mutation_p.S489F|TTYH2_ENST00000269346.4_Missense_Mutation_p.S510F|CTD-2514K5.4_ENST00000583018.1_RNA	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	510						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGCAGTACTCTCCCAGCATG	0.582000													41	133					0	0	0.011902	0	0
PAX9	5083	broad.mit.edu	37	14	37145436	37145436	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr14:37145436G>A	ENST00000361487.6	+	4	1030	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	PAX9_ENST00000554201.1_Silent_p.L78L|PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.V269M			P55771	PAX9_HUMAN	paired box 9	269					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGGCAGTTTTGTGTCAGCATC	0.483000													24	35					0	0	0.005443	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658823	113658823	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:113658823C>T	ENST00000358160.4	+	16	2274	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	GRAMD1C_ENST00000472026.1_Silent_p.L427L|GRAMD1C_ENST00000452134.2_Silent_p.L323L|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.L389L	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	594						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCTCCGCCTCCAAGAAGAGA	0.378000													20	32					0	0	0.012319	0	0
IGF2	3481	broad.mit.edu	37	11	2156627	2156627	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:2156627A>G	ENST00000416167.2	-	2	1293	c.127T>C	c.(127-129)Ttc>Ctc	p.F43L	IGF2_ENST00000434045.2_Missense_Mutation_p.F99L|IGF2_ENST00000381392.1_Missense_Mutation_p.F43L|IGF2_ENST00000381389.1_Missense_Mutation_p.F43L|IGF2_ENST00000418738.2_Missense_Mutation_p.F43L|IGF2_ENST00000337883.6_Missense_Mutation_p.F43L|IGF2_ENST00000381406.4_Missense_Mutation_p.F43L|IGF2_ENST00000381395.1_Missense_Mutation_p.F43L|IGF2_ENST00000300632.5_Missense_Mutation_p.F43L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	43	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCACAGACGAACTGGAGGGTG	0.632000													6	14					0	0	0.001168	0	0
LARP1B	55132	broad.mit.edu	37	4	129043225	129043225	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:129043225C>T	ENST00000326639.6	+	11	1617	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	LARP1B_ENST00000427266.1_Missense_Mutation_p.T469I|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.T422I|LARP1B_ENST00000441387.1_Missense_Mutation_p.T469I|LARP1B_ENST00000512292.1_Missense_Mutation_p.T469I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	469							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CGAACAGGCACCCACATGTCT	0.373000													11	28					0	0	0.010729	0	0
PCSK4	54760	broad.mit.edu	37	19	1487004	1487004	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:1487004C>T	ENST00000300954.5	-	8	977	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	306	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCAGTTGTCGTAGTGCAGG	0.706000													15	40					0	0	0.003163	0	0
NRP2	8828	broad.mit.edu	37	2	206608069	206608069	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:206608069C>T	ENST00000360409.3	+	9	2225	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	NRP2_ENST00000272849.3_Silent_p.I478I|NRP2_ENST00000357118.4_Silent_p.I478I|NRP2_ENST00000357785.5_Silent_p.I478I|NRP2_ENST00000355117.4_Silent_p.I478I|NRP2_ENST00000417189.1_Silent_p.I478I|NRP2_ENST00000540841.1_Silent_p.I478I|NRP2_ENST00000540178.1_Silent_p.I478I|NRP2_ENST00000412873.2_Silent_p.I478I	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	478	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCTCGAATCCCTCAGGCCC	0.617000													19	55					0	0	0.006122	0	0
PRRT3	285368	broad.mit.edu	37	3	9991656	9991656	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:9991656C>T	ENST00000412055.1	-	2	273	c.144G>A	c.(142-144)aaG>aaA	p.K48K	PRRT3_ENST00000411976.2_Silent_p.K48K|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	48						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCACAGAGCCCTTGGGGTGGG	0.632000													11	36					0	0	0.010729	0	0
BIRC3	330	broad.mit.edu	37	11	102207729	102207729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:102207729C>T	ENST00000263464.3	+	9	4461	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	BIRC3_ENST00000532808.1_Missense_Mutation_p.P571S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	571					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGTGTTTATTCCTTGTGGTCA	0.383000			T	MALT1	MALT								8	25					0	0	0.003080	0	0
RP1L1	94137	broad.mit.edu	37	8	10467849	10467849	+	Silent	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:10467849T>C	ENST00000382483.3	-	4	3982	c.3759A>G	c.(3757-3759)caA>caG	p.Q1253Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1253					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACACTGCTGTTGGTTTTCCA	0.557000													15	43					0	0	0.003163	0	0
VWC2	375567	broad.mit.edu	37	7	49842344	49842344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:49842344G>A	ENST00000340652.3	+	3	1290	c.734G>A	c.(733-735)gGt>gAt	p.G245D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	245	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAAGCCAACGGTGAGGTGCTA	0.522000													32	82					0	0	0.010818	0	0
SGIP1	84251	broad.mit.edu	37	1	67194951	67194951	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:67194951A>T	ENST00000371037.4	+	20	1824	c.1747A>T	c.(1747-1749)Atc>Ttc	p.I583F	SGIP1_ENST00000371035.3_Missense_Mutation_p.I373F|SGIP1_ENST00000371036.3_Missense_Mutation_p.I385F|SGIP1_ENST00000371039.1_Missense_Mutation_p.I386F|SGIP1_ENST00000237247.6_Missense_Mutation_p.I614F|SGIP1_ENST00000435165.2_Missense_Mutation_p.I88F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	583					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGCCAGATGTATCGTTAAGAT	0.423000													9	22					0	0	0.008291	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132517	48132517	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:48132517C>T	ENST00000405493.2	-	25	2565	c.2356G>A	c.(2356-2358)Gga>Aga	p.G786R	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.G786R|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.G719R|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.G786R|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.G828R|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.G828R	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	786					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.G786R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTGTGGTTTCCCTCATGAATG	0.478000													20	74					0	0	0.003330	0	0
FGG	2266	broad.mit.edu	37	4	155530802	155530802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:155530802C>T	ENST00000404648.3	-	6	885	c.646G>A	c.(646-648)Gga>Aga	p.G216R	FGG_ENST00000407946.1_Missense_Mutation_p.G224R|FGG_ENST00000405164.1_Missense_Mutation_p.G224R|FGG_ENST00000336098.3_Missense_Mutation_p.G216R	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	216	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACAGTCCATCCATTTCCAGAC	0.388000													20	23					0	0	0.003330	0	0
DSC1	1823	broad.mit.edu	37	18	28725676	28725676	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:28725676C>T	ENST00000257197.3	-	7	1098	c.837G>A	c.(835-837)ctG>ctA	p.L279L	DSC1_ENST00000257198.5_Silent_p.L279L|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	279	Cadherin 2.				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)			TTTTATATTTCAGACGAGTAT	0.408000													16	49					0	0	0.004990	0	0
KLK2	3817	broad.mit.edu	37	19	51379954	51379954	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:51379954G>A	ENST00000325321.3	+	3	658	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KLK2_ENST00000358049.4_Missense_Mutation_p.E145K|KLK2_ENST00000391810.2_Missense_Mutation_p.E43K			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	145	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCCACCCAGGAGCCAGCACT	0.617000			T	ETV4	prostate								11	16					0	0	0.010729	0	0
IGFN1	91156	broad.mit.edu	37	1	201195139	201195139	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:201195139C>T	ENST00000335211.4	+	22	10804	c.10674C>T	c.(10672-10674)ctC>ctT	p.L3558L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTCACCCTCCTGGGCATCC	0.662000													10	34					0	0	0.008291	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141834	64141834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:64141834G>A	ENST00000545618.1	-	3	636	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	ZC4H2_ENST00000374839.3_Missense_Mutation_p.R30C|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.R30C|ZC4H2_ENST00000337990.2_Missense_Mutation_p.R7C			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	30							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCTTCAAACGAGCCTTGATC	0.483000													13	34					0	0	0.002450	0	0
MMP7	4316	broad.mit.edu	37	11	102401358	102401358	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:102401358C>T	ENST00000260227.4	-	1	126	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	25					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ACTCATGCCTCCCGCCTCCTG	0.547000													14	33					0	0	0.004990	0	0
MYOCD	93649	broad.mit.edu	37	17	12639507	12639507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:12639507G>A	ENST00000425538.1	+	6	645	c.445G>A	c.(445-447)Gat>Aat	p.D149N	MYOCD_ENST00000395988.1_Missense_Mutation_p.D53N|MYOCD_ENST00000343344.4_Missense_Mutation_p.D149N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	149					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAAATCCACGGATGCTTTTGC	0.532000													52	140					0	0	0.014410	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257443	84257443	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:84257443G>A	ENST00000324537.5	+	11	1274	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	SH3GL3_ENST00000434347.1_Missense_Mutation_p.R261Q|SH3GL3_ENST00000535412.1_Missense_Mutation_p.R253Q|SH3GL3_ENST00000427482.2_Missense_Mutation_p.R253Q			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCCCCAGACGAGAATACAAG	0.458000													11	37					0	0	0.008291	0	0
NR2F1	7025	broad.mit.edu	37	5	92923685	92923685	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:92923685G>A	ENST00000327111.3	+	2	2213	c.526G>A	c.(526-528)Ggg>Agg	p.G176R		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	176					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACTCACCAACGGGGACCCCCT	0.607000													15	37					0	0	0.002450	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331168	55331168	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55331168G>A	ENST00000391728.4	+	4	389	c.355_splice	c.e4-1	p.G119_splice	KIR3DL1_ENST00000326542.7_Splice_Site_p.G119_splice|KIR3DL1_ENST00000358178.4_Splice_Site_p.G24_splice|KIR3DL1_ENST00000402254.2_Splice_Site_p.G119_splice|KIR3DL1_ENST00000541392.1_Splice_Site_p.G119_splice|KIR3DL1_ENST00000538269.1_Splice_Site_p.G119_splice	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCTTTCTAGGAAACCACAGA	0.502000													16	42					0	0	0.009535	0	0
RGS5	8490	broad.mit.edu	37	1	163117255	163117255	+	Silent	SNP	C	C	T	rs148613695		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:163117255C>T	ENST00000313961.5	-	5	700	c.423G>A	c.(421-423)aaG>aaA	p.K141K	RGS5_ENST00000530507.1_Silent_p.K145K|RGS5_ENST00000367903.3_Silent_p.K161K|RGS5_ENST00000527988.1_Silent_p.K33K	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	141	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CCACCAGGTTCTTCATTGTGA	0.473000													10	41					0	0	0.008291	0	0
CPED1	79974	broad.mit.edu	37	7	120906863	120906863	+	Splice_Site	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:120906863G>T	ENST00000310396.5	+	20	3100		c.e20+1			NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTTGAAGAGGTAAATGTCTG	0.348000													19	25					6.49762e-13	1.74199e-12	0.006122	1	0
MIR522	574495	broad.mit.edu	37	19	54254479	54254479	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:54254479C>T	ENST00000385071.1	+	0	15					NR_030217.1																						AGGCTGTGTCCCTCTAGAGGG	0.408000													37	53					0	0	0.008740	0	0
LIPN	643418	broad.mit.edu	37	10	90526048	90526048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:90526048G>A	ENST00000404459.1	+	4	448	c.448G>A	c.(448-450)Gat>Aat	p.D150N		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	150					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GGCCAAATATGATCTCCCAGG	0.333000													18	58					0	0	0.010504	0	0
ROR2	4920	broad.mit.edu	37	9	94486933	94486933	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:94486933C>T	ENST00000375708.3	-	9	2041	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D475N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	615	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						GTGGCCAGGTCCTTGTGAACC	0.592000													17	68					0	0	0.008871	0	0
FGF9	2254	broad.mit.edu	37	13	22275499	22275499	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr13:22275499C>T	ENST00000382353.5	+	3	1082	c.552C>T	c.(550-552)ttC>ttT	p.F184F	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	184					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACCAGAAATTCACACATTTTT	0.433000													13	23					0	0	0.013537	0	0
FBXW5	54461	broad.mit.edu	37	9	139835775	139835775	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:139835775G>A	ENST00000325285.3	-	8	1464	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	462							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCGCGGTGCGCACGCAGAGC	0.672000													7	22					0	0	0.003080	0	0
GJA8	2703	broad.mit.edu	37	1	147380868	147380868	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:147380868A>C	ENST00000240986.4	+	2	839	c.786A>C	c.(784-786)aaA>aaC	p.K262N	GJA8_ENST00000369235.1_Missense_Mutation_p.K262N	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	262					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCATCCAGAAAGCCAAGGGCT	0.557000													7	42					0	0	0.001984	0	0
CPSF6	11052	broad.mit.edu	37	12	69652823	69652823	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:69652823C>T	ENST00000435070.2	+	6	1258	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	CPSF6_ENST00000456847.3_Missense_Mutation_p.P310L|CPSF6_ENST00000266679.8_Missense_Mutation_p.P420L|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	383	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAACAGATCCATATGGGCGA	0.512000													19	46					0	0	0.008871	0	0
AOAH	313	broad.mit.edu	37	7	36677509	36677509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:36677509C>T	ENST00000431169.1	-	5	698	c.398G>A	c.(397-399)tGg>tAg	p.W133*	AOAH_ENST00000258749.5_Nonsense_Mutation_p.W133*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.W101*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	133					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAAATTTCCATGTCTCCTA	0.363000													5	38					0	0	0.001168	0	0
HTR2C	3358	broad.mit.edu	37	X	114141517	114141517	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:114141517G>A	ENST00000276198.1	+	6	1644	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	HTR2C_ENST00000371951.1_Missense_Mutation_p.E306K|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	306					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TATCAACAATGAAAGAAAAGC	0.443000													31	57					0	0	0.007291	0	0
TGM6	343641	broad.mit.edu	37	20	2380983	2380983	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:2380983C>T	ENST00000202625.2	+	7	943	c.882C>T	c.(880-882)gtC>gtT	p.V294V	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.V294V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	294					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V294V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCACACGGGTCGTGTCCAACT	0.617000													21	36					0	0	0.012319	0	0
FBXO24	26261	broad.mit.edu	37	7	100189321	100189321	+	Silent	SNP	A	A	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:100189321A>T	ENST00000241071.6	+	4	676	c.354A>T	c.(352-354)ggA>ggT	p.G118G	FBXO24_ENST00000468962.1_Silent_p.G106G|FBXO24_ENST00000427939.2_Silent_p.G156G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.G104G|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.G104G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	118						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGCATTTGGAGGCCGCCGCC	0.577000													26	67					0	0	0.006320	0	0
RECK	8434	broad.mit.edu	37	9	36083538	36083538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:36083538C>T	ENST00000377966.3	+	8	1182	c.616C>T	c.(616-618)Cca>Tca	p.P206S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	206	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCAATCTTATCCAATGAGGAA	0.348000													6	14					0	0	0.001984	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998240	72998240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr18:72998240C>T	ENST00000322038.5	+	2	1327	c.743C>T	c.(742-744)tCc>tTc	p.S248F	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S293F	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGAAGCGCTCCCTGATGGAG	0.572000													19	26					0	0	0.007413	0	0
CMYA5	202333	broad.mit.edu	37	5	79030721	79030721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:79030721G>A	ENST00000446378.2	+	2	6164	c.6133G>A	c.(6133-6135)Gaa>Aaa	p.E2045K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2045						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTACCTCCTGAAAGATTCTT	0.438000													19	39					0	0	0.014323	0	0
ROCK2	9475	broad.mit.edu	37	2	11426678	11426678	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:11426678C>A	ENST00000315872.6	-	3	759	c.311G>T	c.(310-312)gGt>gTt	p.G104V	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	104	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTGCACTTCACCAAAAGCACC	0.343000													20	59					5.49717e-05	0.000145428	0.003330	1	0
TTN	7273	broad.mit.edu	37	2	179457686	179457686	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179457686C>T	ENST00000589042.1	-	300	59384	c.59160G>A	c.(59158-59160)caG>caA	p.Q19720Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q18079Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.Q10847Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Q10655Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.Q10780Q|TTN_ENST00000342992.6_Silent_p.Q17152Q|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18079							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)			CTCCAACTTTCTGGTACTCAA	0.448000													52	149					0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	T	C	rs111331725	by1000genomes	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:29628261T>C	ENST00000278882.3	+	6	643	c.263T>C	c.(262-264)tTt>tCt	p.F88S	FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363000													4	56					0	0	0.009096	0	0
ABCB4	5244	broad.mit.edu	37	7	87047888	87047888	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:87047888T>A	ENST00000265723.4	-	20	2554	c.2443A>T	c.(2443-2445)Aca>Tca	p.T815S	ABCB4_ENST00000358400.3_Missense_Mutation_p.T815S|ABCB4_ENST00000545634.1_Missense_Mutation_p.T815S|ABCB4_ENST00000453593.1_Missense_Mutation_p.T815S|ABCB4_ENST00000359206.3_Missense_Mutation_p.T815S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	815	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCAAGTCTTGTAGAAAGTGCA	0.373000													18	44					0	0	0.008871	0	0
SEC14L5	9717	broad.mit.edu	37	16	5061172	5061172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:5061172G>A	ENST00000251170.7	+	15	2057	c.1877G>A	c.(1876-1878)tGc>tAc	p.C626Y	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	626	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGCGTGGCCTGCAGCCTCCCG	0.647000													5	5					0	0	0.001168	0	0
MBL2	4153	broad.mit.edu	37	10	54531368	54531368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:54531368G>A	ENST00000373968.3	-	1	92	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	10					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTCAGGAGAAGGAGAGGGAGT	0.498000													3	8					0	0	0.004672	0	0
ANO4	121601	broad.mit.edu	37	12	101520699	101520699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:101520699C>T	ENST00000392979.3	+	26	2975	c.2614C>T	c.(2614-2616)Cca>Tca	p.P872S	ANO4_ENST00000550015.1_Missense_Mutation_p.P427S|ANO4_ENST00000392977.3_Missense_Mutation_p.P907S|ANO4_ENST00000299222.9_Missense_Mutation_p.P427S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	907						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATATCTGATCCCAGACCTCCC	0.443000										HNSCC(74;0.22)			5	26					0	0	0.000602	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147424	62147424	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr12:62147424C>T	ENST00000416284.3	-	4	1947	c.363G>A	c.(361-363)ggG>ggA	p.G121G	FAM19A2_ENST00000550003.1_Silent_p.G24G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Silent_p.G121G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	121						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGACTTTATTCCCAGAGGAAC	0.433000													14	36					0	0	0.004007	0	0
KCNK2	3776	broad.mit.edu	37	1	215298016	215298016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:215298016G>A	ENST00000444842.2	+	3	548	c.398G>A	c.(397-399)gGa>gAa	p.G133E	KCNK2_ENST00000391894.2_Missense_Mutation_p.G118E|KCNK2_ENST00000391895.2_Missense_Mutation_p.G129E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	133							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATACCGTTAGGAAACACCTCC	0.383000													28	70					0	0	0.005443	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869886	22869886	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:22869886C>T	ENST00000302097.3	-	2	321	c.69G>A	c.(67-69)agG>agA	p.R23R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CATCCTCCTCCCTTTGTTTGG	0.383000													15	63					0	0	0.004007	0	0
EPPK1	83481	broad.mit.edu	37	8	144943375	144943375	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:144943375C>T	ENST00000525985.1	-	2	4118	c.4047G>A	c.(4045-4047)caG>caA	p.Q1349Q				P58107	EPIPL_HUMAN	epiplakin 1	1349						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCTCGTTCTGTGGCACGA	0.701000													7	38					0	0	0.001984	0	0
GPM6A	2823	broad.mit.edu	37	4	176594872	176594872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr4:176594872C>T	ENST00000280187.7	-	4	391	c.346G>A	c.(346-348)Gat>Aat	p.D116N	GPM6A_ENST00000393658.2_Missense_Mutation_p.D116N|GPM6A_ENST00000515090.1_Missense_Mutation_p.D109N|GPM6A_ENST00000506894.1_Missense_Mutation_p.D105N	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	116						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTTTGAAATCCCCATAGAGA	0.438000													6	20					0	0	0.001984	0	0
ZNF232	7775	broad.mit.edu	37	17	5009481	5009481	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:5009481G>A	ENST00000250076.3	-	5	1627	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.H316Y	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTCCAGAATGAACTCTCTGG	0.413000													28	70					0	0	0.006320	0	0
WWC1	23286	broad.mit.edu	37	5	167882460	167882460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:167882460C>T	ENST00000265293.4	+	19	3260	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Nonsense_Mutation_p.R920*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	920	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCCATTTCTTCGAGGGAGCAC	0.642000													33	91					0	0	0.003271	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469681	156469681	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr5:156469681G>A	ENST00000339252.3	-	5	1326	c.794C>T	c.(793-795)aCc>aTc	p.T265I	HAVCR1_ENST00000544197.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T265I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	260					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTGTCACGGTGTCATTCCC	0.353000													67	239					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179396030	179396030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:179396030C>T	ENST00000589042.1	-	358	105536	c.105312G>A	c.(105310-105312)atG>atA	p.M35104I	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M33463I|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M26231I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M26039I|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M26164I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M32536I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33463							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)			CAGCACTTTTCATTTCTGCAG	0.438000													31	89					0	0	0.007291	0	0
FSD1	79187	broad.mit.edu	37	19	4318373	4318373	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:4318373C>T	ENST00000221856.6	+	9	977	c.830C>T	c.(829-831)tCc>tTc	p.S277F	FSD1_ENST00000598010.1_Intron|FSD1_ENST00000597590.1_Missense_Mutation_p.S277F	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	277	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCACATCCCACCAGAAC	0.612000													9	30					0	0	0.006214	0	0
HECW1	23072	broad.mit.edu	37	7	43594324	43594324	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:43594324C>T	ENST00000395891.1	+	29	5249	c.4644C>T	c.(4642-4644)ctC>ctT	p.L1548L	HECW1_ENST00000453890.1_Silent_p.L1514L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1548	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGCAGCCCTCCGTGGGAGCA	0.572000													10	27					0	0	0.013537	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr3:169099072C>T	ENST00000494292.1	-	2	375	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	93							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						GGTCCATATTCCTAGTCCTGC	0.483000													24	72					0	0	0.002780	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722087	50722087	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:50722087G>A	ENST00000449103.1	-	15	2654	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	PLXNB2_ENST00000359337.4_Silent_p.I838I|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	838	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACAGAGATCCTCTGGA	0.642000													5	17					0	0	0.000602	0	0
TSIX	9383	broad.mit.edu	37	X	73044503	73044503	+	RNA	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:73044503C>T	ENST00000604411.1	+	0	32464				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCAAATTTTTCATTTACAAGT	0.333000													8	14					0	0	0.003080	0	0
APOB	338	broad.mit.edu	37	2	21235442	21235442	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:21235442G>A	ENST00000233242.1	-	26	4425	c.4298C>T	c.(4297-4299)tCg>tTg	p.S1433L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1433					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S1433L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGATATTCGAATCTAGAAA	0.368000													112	379					0	0	0.014410	0	0
OGDH	4967	broad.mit.edu	37	7	44746846	44746846	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:44746846C>T	ENST00000222673.5	+	21	2697	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	OGDH_ENST00000439616.2_Silent_p.I735I|OGDH_ENST00000447398.1_Silent_p.I896I|OGDH_ENST00000444676.1_Silent_p.I900I|OGDH_ENST00000449767.1_Silent_p.I881I|OGDH_ENST00000543843.1_Silent_p.I836I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	885					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGCGGGTGATCCCAGAAGATG	0.562000													16	39					0	0	0.007413	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364127	23364127	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:23364127C>T	ENST00000343070.2	+	3	493	c.317C>T	c.(316-318)tCc>tTc	p.S106F	SCNN1B_ENST00000568085.1_Missense_Mutation_p.S106F|SCNN1B_ENST00000307331.5_Missense_Mutation_p.S151F|SCNN1B_ENST00000568923.1_Missense_Mutation_p.S106F|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	106					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCAGGTATTCCAAAATCAAG	0.498000													20	36					0	0	0.014323	0	0
ATG9B	285973	broad.mit.edu	37	7	150715841	150715841	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:150715841G>A	ENST00000605938.1	-	6	1659	c.1584C>T	c.(1582-1584)gcC>gcT	p.A528A	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.A528A|ATG9B_ENST00000444312.1_Intron	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	528					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGGCGGGCCAGCAGCG	0.746000													4	8					0	0	0.000602	0	0
FAM83A	84985	broad.mit.edu	37	8	124206317	124206317	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:124206317G>A	ENST00000518448.1	+	4	2716	c.702G>A	c.(700-702)agG>agA	p.R234R	FAM83A_ENST00000318462.6_Silent_p.R234R|FAM83A_ENST00000536633.1_Silent_p.R234R|FAM83A_ENST00000546351.1_Silent_p.R178R|FAM83A_ENST00000276699.6_Silent_p.R234R|FAM83A_ENST00000522648.1_Silent_p.R178R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	234										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCAGGCAGGAAATTCGCTG	0.473000													14	59					0	0	0.002450	0	0
BSPRY	54836	broad.mit.edu	37	9	116131915	116131915	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:116131915C>T	ENST00000374183.4	+	6	741	c.702C>T	c.(700-702)atC>atT	p.I234I	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	234	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ACATACGGATCGATGAGAGGA	0.562000													17	44					0	0	0.012319	0	0
S100A10	6281	broad.mit.edu	37	1	151958578	151958578	+	Silent	SNP	C	C	T	rs151104998		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:151958578C>T	ENST00000368811.3	-	2	788	c.129G>A	c.(127-129)ttG>ttA	p.L43L	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Silent_p.L43L	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	43					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTTACTTCCAAAAATCCAG	0.413000													12	88					0	0	0.002450	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473699	134473699	+	Splice_Site	SNP	T	T	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:134473699T>A	ENST00000372195.1	-	13	2238		c.e13-2		RAPGEF1_ENST00000372190.3_Splice_Site|RAPGEF1_ENST00000372189.3_Splice_Site			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1						activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTTGGGGCCCTGCGGGGAGAA	0.602000													3	14					0	0	0.004672	0	0
GPR20	2843	broad.mit.edu	37	8	142367222	142367222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:142367222G>A	ENST00000377741.3	-	2	892	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	268						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGCATGTCGGGCCACAGCGCC	0.652000													33	20					0	0	0.012213	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794562	15794562	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:15794562C>T	ENST00000550308.1	+	7	1287	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	CYP4F12_ENST00000324632.9_Silent_p.L303L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGATGTGCTTCTGCTGAGCAA	0.438000													25	86					0	0	0.006320	0	0
CA4	762	broad.mit.edu	37	17	58235079	58235079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:58235079G>A	ENST00000300900.4	+	5	542	c.443G>A	c.(442-444)gGg>gAg	p.G148E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	148					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAAGAGAAGGGGACATCGAGG	0.587000													12	58					0	0	0.013537	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606832	84606832	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:84606832C>T	ENST00000344803.2	+	4	1494	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCAGCACATCCATCAGCAGCC	0.453000													4	40					0	0	0.000602	0	0
MYOM2	9172	broad.mit.edu	37	8	2048769	2048769	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:2048769C>T	ENST00000262113.4	+	20	2685	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_ENST00000523438.1_Silent_p.F273F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	848	Fibronectin type-III 5.				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)		CTGGATATTTCGTGGACTTCA	0.542000													9	25					0	0	0.006214	0	0
RELN	5649	broad.mit.edu	37	7	103292135	103292135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:103292135G>A	ENST00000424685.2	-	15	2024	c.1865C>T	c.(1864-1866)aCt>aTt	p.T622I	RELN_ENST00000343529.5_Missense_Mutation_p.T622I|RELN_ENST00000428762.1_Missense_Mutation_p.T622I			P78509	RELN_HUMAN	reelin	622					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGTAGACAGTGCTGTGGGG	0.463000													34	44					0	0	0.004878	0	0
TRPC6	7225	broad.mit.edu	37	11	101347111	101347111	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:101347111C>T	ENST00000344327.3	-	6	2089	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	TRPC6_ENST00000348423.4_Silent_p.Q439Q|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Silent_p.Q500Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	555					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAATGATGCTCTGGGCTTTGG	0.393000													6	30					0	0	0.001168	0	0
PTPRH	5794	broad.mit.edu	37	19	55716753	55716753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr19:55716753G>A	ENST00000376350.3	-	4	582	c.560C>T	c.(559-561)tCc>tTc	p.S187F	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	187	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACCCACATGGAAAACGCATA	0.507000													26	81					0	0	0.004656	0	0
PLCG1	5335	broad.mit.edu	37	20	39792045	39792045	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr20:39792045G>A	ENST00000373272.2	+	9	1222	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	PLCG1_ENST00000373271.1_Missense_Mutation_p.V273M|PLCG1_ENST00000244007.3_Missense_Mutation_p.V273M	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	273					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCGCCTCCAGGTGCAGGAGTT	0.582000													14	48					0	0	0.004007	0	0
HFM1	164045	broad.mit.edu	37	1	91816303	91816303	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:91816303G>A	ENST00000370425.3	-	18	2296	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S412F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	733							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACCATAATGAGATGGATTTTT	0.348000													9	20					0	0	0.004482	0	0
TRIM62	55223	broad.mit.edu	37	1	33625297	33625297	+	Silent	SNP	C	C	G			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:33625297C>G	ENST00000291416.5	-	3	986	c.753G>C	c.(751-753)ctG>ctC	p.L251L	TRIM62_ENST00000543586.1_Silent_p.L130L|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	251						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				ACCGCTCGGACAGTGAGGCCA	0.682000													6	21					0	0	0.001168	0	0
BTBD16	118663	broad.mit.edu	37	10	124043405	124043405	+	Silent	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:124043405T>C	ENST00000368994.2	+	4	461	c.210T>C	c.(208-210)aaT>aaC	p.N70N	BTBD16_ENST00000260723.4_Silent_p.N69N			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	69										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCTTTGAGAATTTCAAGAACA	0.378000													4	10					0	0	0.001168	0	0
ZNF716	441234	broad.mit.edu	37	7	57510015	57510015	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:57510015C>T	ENST00000420713.1	+	1	133	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GACCGGGACCCCCTGGAAGCC	0.567000													19	24					0	0	0.003954	0	0
FZD1	8321	broad.mit.edu	37	7	90895683	90895683	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:90895683C>T	ENST00000287934.2	+	1	1901	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	496					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCCCCTCTTCGTGTACCTGT	0.622000													46	120					0	0	0.014410	0	0
TCN2	6948	broad.mit.edu	37	22	31011344	31011344	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr22:31011344C>T	ENST00000215838.3	+	5	1131	c.637C>T	c.(637-639)Cct>Tct	p.P213S	TCN2_ENST00000405742.3_Missense_Mutation_p.P209S|TCN2_ENST00000407817.3_Missense_Mutation_p.P186S			P20062	TCO2_HUMAN	transcobalamin II	213					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557000													14	47					0	0	0.002450	0	0
CNGA2	1260	broad.mit.edu	37	X	150911705	150911705	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chrX:150911705G>A	ENST00000329903.4	+	6	763	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	244					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCCTGAGGTGCGCTT	0.532000													28	57					0	0	0.006320	0	0
CFB	629	broad.mit.edu	37	6	31896656	31896656	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr6:31896656G>A	ENST00000477310.1	+	3	433	c.404G>A	c.(403-405)gGc>gAc	p.G135D	C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.G135D|CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.G135D|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	149	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGCCCCAACGGCATGTGGGAT	0.622000													70	223					0	0	0.014410	0	0
QRICH2	84074	broad.mit.edu	37	17	74273322	74273322	+	Silent	SNP	G	G	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:74273322G>T	ENST00000262765.5	-	16	4868	c.4689C>A	c.(4687-4689)acC>acA	p.T1563T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1563							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTAGGGGTAGGTGAGGGTGT	0.612000													24	111					4.43304e-23	1.19489e-22	0.006320	1	0
GTF3C2	2976	broad.mit.edu	37	2	27552143	27552143	+	Silent	SNP	G	G	A			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:27552143G>A	ENST00000359541.2	-	14	2313	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	GTF3C2_ENST00000264720.3_Silent_p.F628F			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	628						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGACAAGGAAATGGCTGT	0.488000													83	224					0	0	0.014410	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212554	81212554	+	Silent	SNP	C	C	T			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr15:81212554C>T	ENST00000394685.3	+	15	2336	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.L639L|KIAA1199_ENST00000356249.5_Silent_p.L639L			Q8WUJ3	K1199_HUMAN	KIAA1199	639										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACCCTCCTCCCCTCGGACC	0.557000													8	39					0	0	0.006214	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508607	95508607	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr8:95508607G>C	ENST00000297591.5	-	18	4407	c.4332C>G	c.(4330-4332)agC>agG	p.S1444R	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1444					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCTTCTTTGCTTTGTAGAA	0.388000													11	35					0	0	0.010729	0	0
TNR	7143	broad.mit.edu	37	1	175334205	175334205	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr1:175334205T>C	ENST00000367674.1	-	12	3236	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S	TNR_ENST00000263525.2_Missense_Mutation_p.N843S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	843	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCACAAGGTTCACAATATA	0.567000													20	63					0	0	0.008871	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316089	73316092	+	Frame_Shift_Del	DEL	GCTG	GCTG	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:73316089_73316092delGCTG	ENST00000258098.6	-	2	1023_1026	c.783_786delCAGC	c.(781-786)gcfs	p.AS261fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	261					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAAGCTCCCGCTGGCTGAGGACA	0.647													8	37	---	---	---	---					
SLC35F5	80255	broad.mit.edu	37	2	114500277	114500277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr2:114500277delA	ENST00000245680.2	-	7	1155	c.742delT	c.(742-744)gcfs	p.C248fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	248					transport	integral to membrane		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343													8	87	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													6	12	---	---	---	---					
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													2	4	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107602665	107602666	+	Frame_Shift_Ins	INS	-	-	C	rs2246841	byFrequency	TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr9:107602665_107602666insC	ENST00000374736.3	-	9	1342_1343	c.948_949insG	c.(946-951)ggtgaafs	p.E317fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	317					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATCTTCAGCCCCCCTCCCT	0.515													8	37	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													8	62	---	---	---	---					
POLA2	23649	broad.mit.edu	37	11	65057338	65057340	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr11:65057338_65057340delAAG	ENST00000265465.3	+	13	1770_1772	c.1239_1241delAAG	c.(1237-1242)aca>ac	p.TR413del	POLA2_ENST00000541089.1_In_Frame_Del_p.TR205del	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	413					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTGAAGGCACAAGAAGGTCAGAT	0.404													5	7	---	---	---	---					
CLEC16A	23274	broad.mit.edu	37	16	11272268	11272269	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr16:11272268_11272269delCT	ENST00000409790.1	+	24	3113_3114	c.2883_2884delCT	c.(2881-2886)gactfs	p.DS961fs	CLEC16A_ENST00000381822.2_Frame_Shift_Del_p.DS48fs	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	961								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGAAGCAGACTCTAAGCCCAG	0.604													29	56	---	---	---	---					
CASC3	22794	broad.mit.edu	37	17	38324121	38324121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A1Q4-06A-11D-A196-08	TCGA-D3-A1Q4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d11fd9e-86e8-4e08-96cb-9ca66a7fa283	4ac9b47d-a5ec-4d70-aafe-e556cbd8322c	g.chr17:38324121delT	ENST00000264645.7	+	10	1896	c.1670delT	c.(1669-1671)acfs	p.I557fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	557	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGGGACCAATCTATACCCAT	0.517													27	132	---	---	---	---					
