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
TTN	7273	broad.mit.edu	37	2	179529447	179529447	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179529447C>T	ENST00000589042.1	-	167	36360	c.36136G>A	c.(36136-36138)Gaa>Aaa	p.E12046K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10194	Ig-like 80.						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)			GGGACAATTTCTTGGAGAGCT	0.393000													8	22					0	0	0.004482	0	0
CPE	1363	broad.mit.edu	37	4	166385634	166385634	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166385634G>A	ENST00000402744.4	+	2	680	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	134					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTATGCAACGAATACCAGAA	0.473000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	13					0	0	0.004007	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657436	139657436	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:139657436C>T	ENST00000263552.6	+	12	1233	c.695C>T	c.(694-696)tCa>tTa	p.S232L	TBXAS1_ENST00000411653.1_Missense_Mutation_p.S231L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S231L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S277L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S164L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S231L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S232L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S232L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S278L	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	231					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTTCAAGTATCATTTCCATCC	0.453000													25	34					0	0	0.005443	0	0
VIT	5212	broad.mit.edu	37	2	37036010	37036010	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:37036010C>T	ENST00000379242.3	+	15	2087	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	VIT_ENST00000404084.1_Silent_p.F532F|VIT_ENST00000497382.1_Silent_p.F249F|VIT_ENST00000379241.3_Silent_p.F558F|VIT_ENST00000401530.1_Silent_p.F559F|VIT_ENST00000389975.3_Silent_p.F580F	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	580	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCATCAACTTCGCCCTGGAGC	0.577000													15	30					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9064313	9064313	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9064313G>A	ENST00000397910.4	-	3	23336	c.23133C>T	c.(23131-23133)ccC>ccT	p.P7711P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7711P(2)|p.P3344P(1)		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						GGGGAGAGGGGGGGATATGTG	0.537000													24	36					0	0	0.003330	0	0
GRHL2	79977	broad.mit.edu	37	8	102570809	102570809	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:102570809C>T	ENST00000251808.3	+	4	785	c.447C>T	c.(445-447)atC>atT	p.I149I	GRHL2_ENST00000395927.1_Silent_p.I133I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	149						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCTCTGCCATCATCCCGGTGT	0.527000													12	38					0	0	0.000978	0	0
PTGFR	5737	broad.mit.edu	37	1	79002215	79002215	+	Missense_Mutation	SNP	G	G	A	rs151178719		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:79002215G>A	ENST00000370757.3	+	3	1160	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	PTGFR_ENST00000370758.1_Missense_Mutation_p.R308Q|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	308					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTCTTCTACGAAAGGCTGTC	0.388000													21	47					0	0	0.001882	0	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489264	99489264	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:99489264C>T	ENST00000602289.1	+	0	253																											CCCTGATGGCCTTACAGAGAA	0.478000													15	4					0	0	0.003163	0	0
OR52R1	119695	broad.mit.edu	37	11	4825646	4825646	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4825646C>G	ENST00000380382.1	-	1	201	c.202G>C	c.(202-204)Gat>Cat	p.D68H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAACGCAATCTACTCTCTGC	0.433000													7	24					0	0	0.004482	0	0
ALPK2	115701	broad.mit.edu	37	18	56247653	56247653	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:56247653C>A	ENST00000361673.3	-	4	568	c.355G>T	c.(355-357)Gat>Tat	p.D119Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	119							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCCTGTCATCTTCCAGGTTA	0.428000													19	115					1.50039e-11	1.80174e-11	0.001882	1	0
EGLN2	112398	broad.mit.edu	37	19	41307069	41307069	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41307069C>T	ENST00000593726.1	+	1	1620	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.L198L|EGLN2_ENST00000406058.2_Silent_p.L198L			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	198					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGACAGCTTCCTGGGGGCAGC	0.692000													40	76					0	0	0.003214	0	0
OPRK1	4986	broad.mit.edu	37	8	54141976	54141976	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:54141976G>A	ENST00000265572.3	-	4	1321	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R253W|OPRK1_ENST00000520287.1_Missense_Mutation_p.R342W	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	342					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CAGAAGTCCCGGAAACACCGC	0.493000													6	14					0	0	0.001168	0	0
SCRN2	90507	broad.mit.edu	37	17	45918102	45918102	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:45918102G>A	ENST00000407215.3	-	2	189	c.108C>T	c.(106-108)ccC>ccT	p.P36P	SCRN2_ENST00000584123.1_Silent_p.P44P|SCRN2_ENST00000290216.9_Silent_p.P36P			Q96FV2	SCRN2_HUMAN	secernin 2	36					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCTCGTCCCGGGGTCGGTCCG	0.642000													19	16					0	0	0.007413	0	0
EAPP	55837	broad.mit.edu	37	14	35005309	35005309	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:35005309G>A	ENST00000250454.3	-	2	328	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	83					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCAGTTCCCAGAGAGGATAAC	0.363000													5	6					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38996005	38996005	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38996005C>T	ENST00000355481.4	+	53	8498	c.8367C>T	c.(8365-8367)ccC>ccT	p.P2789P	RYR1_ENST00000360985.3_Silent_p.P2789P|RYR1_ENST00000359596.3_Silent_p.P2789P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2789	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACCCACCCCATGCTGAGGC	0.557000													6	10					0	0	0.001168	0	0
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602000										HNSCC(67;0.2)			18	18					0	0	0.001882	0	0
XPO4	64328	broad.mit.edu	37	13	21373389	21373389	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:21373389G>A	ENST00000400602.2	-	16	2272	c.2237C>T	c.(2236-2238)cCt>cTt	p.P746L	XPO4_ENST00000255305.6_Missense_Mutation_p.P746L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	746					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCTCTGCACAGGACTTGACAA	0.438000													48	128					0	0	0.003610	0	0
SCIMP	388325	broad.mit.edu	37	17	5114157	5114157	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:5114157T>G	ENST00000574081.1	-	5	481	c.377A>C	c.(376-378)gAg>gCg	p.E126A	RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.E119A|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	126						integral to membrane											ATCTTCAGGCTCAATGTAGCT	0.413000													25	27					0	0	0.003954	0	0
KIF4B	285643	broad.mit.edu	37	5	154395651	154395651	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154395651G>A	ENST00000435029.4	+	1	2392	c.2232G>A	c.(2230-2232)agG>agA	p.R744R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	744	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCGAGTGAGGAATTGGCTTG	0.478000													13	14					0	0	0.001855	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841613	208841613	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:208841613G>A	ENST00000457206.1	-	3	1735	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	PLEKHM3_ENST00000389247.4_Silent_p.L436L|PLEKHM3_ENST00000427836.2_Silent_p.L436L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	436	PH 2.				intracellular signal transduction		metal ion binding	p.L436L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCAGCTCGGAGGCGAAGGA	0.547000													17	25					0	0	0.004990	0	0
XIST	7503	broad.mit.edu	37	X	73069151	73069151	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73069151G>A	ENST00000429829.1	-	0	3437					NR_001564.2																						TCCAACAAAAGACGGGTTGTC	0.438000													18	15					0	0	0.001523	0	0
LGI1	9211	broad.mit.edu	37	10	95556941	95556941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95556941C>T	ENST00000371418.4	+	8	1315	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S304L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	352					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCTGACAGTTCAAAAGCTGGT	0.373000													12	24					0	0	0.001368	0	0
FRY	10129	broad.mit.edu	37	13	32776087	32776087	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:32776087C>T	ENST00000380250.3	+	30	4252	c.3756C>T	c.(3754-3756)ccC>ccT	p.P1252P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAACTATCCCTTCGACATAG	0.393000													10	51					0	0	0.000978	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35932273	35932273	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35932273G>A	ENST00000325722.3	-	7	1371	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	379	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAATCACTTTGAATTCATACA	0.438000													19	36					0	0	0.002299	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:130762527G>A	ENST00000392429.1	+	2	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_ENST00000545622.1_Silent_p.R320R|TMEM200A_ENST00000296978.3_Silent_p.R320R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000													12	9					0	0	0.000978	0	0
GLDN	342035	broad.mit.edu	37	15	51689759	51689759	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:51689759C>T	ENST00000335449.6	+	6	837	c.781C>T	c.(781-783)Cct>Tct	p.P261S	GLDN_ENST00000396399.2_Missense_Mutation_p.P137S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	261	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCCAAAGGCCCTCGGCAGCC	0.637000													11	28					0	0	0.008291	0	0
MAP10	54627	broad.mit.edu	37	1	232943069	232943069	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:232943069T>A	ENST00000418460.1	+	1	2427	c.2300T>A	c.(2299-2301)aTt>aAt	p.I767N		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GCAAATTCCATTATTCCAGAA	0.348000													32	97					0	0	0.006230	0	0
DTNBP1	84062	broad.mit.edu	37	6	15651588	15651588	+	Silent	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:15651588A>C	ENST00000338950.5	-	3	222	c.117T>G	c.(115-117)gtT>gtG	p.V39V	DTNBP1_ENST00000344537.5_Silent_p.V39V|DTNBP1_ENST00000355917.3_Silent_p.V39V	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	39					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAAAAATGGAACAGTCCTGC	0.323000									Hermansky-Pudlak syndrome				25	93					0	0	0.005443	0	0
ZNF462	58499	broad.mit.edu	37	9	109690269	109690269	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:109690269C>T	ENST00000277225.5	+	3	4365	c.4076C>T	c.(4075-4077)tCt>tTt	p.S1359F	ZNF462_ENST00000441147.2_Missense_Mutation_p.S204F|ZNF462_ENST00000457913.1_Missense_Mutation_p.S1359F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1359					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCCCCTCCCTCTCTCACAATG	0.507000													27	11					0	0	0.005443	0	0
SDK1	221935	broad.mit.edu	37	7	4014170	4014170	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:4014170G>A	ENST00000404826.2	+	13	2126	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	SDK1_ENST00000389531.3_Missense_Mutation_p.E663K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	663	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCCGGCTGGAAGTGATGTG	0.562000													5	15					0	0	0.000602	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299400	117299400	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:117299400T>A	ENST00000321322.6	-	33	5987	c.5986A>T	c.(5986-5988)Acc>Tcc	p.T1996S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T1726S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1936	Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTGGTAGGTTCGAGCCAGG	0.667000													9	7					0	0	0.006214	0	0
DOCK8	81704	broad.mit.edu	37	9	340242	340242	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:340242C>T	ENST00000432829.2	+	14	1712	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	DOCK8_ENST00000453981.1_Missense_Mutation_p.P534S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P466S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	534	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAACCCTTTCCTGAAAACCG	0.468000													29	21					0	0	0.007291	0	0
RASEF	158158	broad.mit.edu	37	9	85677354	85677354	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:85677354G>A	ENST00000376447.3	-	1	689	c.429C>T	c.(427-429)ccC>ccT	p.P143P	RASEF_ENST00000340717.4_Silent_p.P143P	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	143					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTCGCACCTGGGAATGAACT	0.672000													12	14					0	0	0.001855	0	0
FSHR	2492	broad.mit.edu	37	2	49381436	49381436	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:49381436G>A	ENST00000406846.2	-	1	240	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FSHR_ENST00000346173.3_Missense_Mutation_p.P41S|FSHR_ENST00000304421.4_Missense_Mutation_p.P41S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	41	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGTCAGAAGGAATCTCTGTC	0.478000									Gonadal Dysgenesis, 46 XX				8	27					0	0	0.004482	0	0
CXorf22	170063	broad.mit.edu	37	X	35974253	35974253	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:35974253A>G	ENST00000297866.5	+	8	1416	c.1350A>G	c.(1348-1350)aaA>aaG	p.K450K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	450										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACCACTTTAAAAAAACTGCAA	0.353000													9	14					0	0	0.004482	0	0
DNAH2	146754	broad.mit.edu	37	17	7719992	7719992	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7719992G>A	ENST00000572933.1	+	64	11293	c.9833G>A	c.(9832-9834)cGa>cAa	p.R3278Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3278Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3278					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGCTGGAGCGAGCTGGGATG	0.542000													31	37					0	0	0.002096	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128651	126128651	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126128651G>A	ENST00000299308.3	+	6	1460	c.1452G>A	c.(1450-1452)gtG>gtA	p.V484V	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	484						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTTTTGTGAATGGGAAGG	0.468000													12	27					0	0	0.001855	0	0
C2orf42	54980	broad.mit.edu	37	2	70408972	70408972	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:70408972G>A	ENST00000264434.2	-	3	525	c.146C>T	c.(145-147)aCc>aTc	p.T49I	C2orf42_ENST00000420306.1_Missense_Mutation_p.T49I|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	49										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCGGAATATGGTTCCACATGT	0.512000													19	36					0	0	0.007413	0	0
PIAS3	10401	broad.mit.edu	37	1	145578693	145578693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:145578693C>T	ENST00000393045.2	+	3	589	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	PIAS3_ENST00000369298.1_Nonsense_Mutation_p.Q132*|PIAS3_ENST00000369299.3_Nonsense_Mutation_p.Q158*	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	167	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTCACACCCCAGCAAGTGCA	0.522000													58	36					0	0	0.003610	0	0
AP1M1	8907	broad.mit.edu	37	19	16314426	16314426	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16314426C>T	ENST00000291439.3	+	2	648	c.199_splice	c.e2+1	p.L67_splice	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Splice_Site_p.L67_splice|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Splice_Site_p.L67_splice	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	67					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACCTGTATCGTATCCCTTT	0.597000													30	35					0	0	0.002836	0	0
CLVS1	157807	broad.mit.edu	37	8	62366700	62366700	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:62366700G>A	ENST00000519846.1	+	5	1103	c.630_splice	c.e5-1	p.D211_splice	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Splice_Site_p.D211_splice			Q8IUQ0	CLVS1_HUMAN	clavesin 1	211	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCTGCCCCAGGACAGCTTTCC	0.498000													36	111					0	0	0.006999	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628733	8628733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8628733C>T	ENST00000382073.3	+	5	568	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	128	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	p.Q128K(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					tttcattgtccagcagctgaa	0.363000													6	21					0	0	0.001168	0	0
CHD8	57680	broad.mit.edu	37	14	21871805	21871805	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21871805G>A	ENST00000399982.2	-	16	3389	c.3325C>T	c.(3325-3327)Cta>Tta	p.L1109L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Silent_p.L1109L|CHD8_ENST00000430710.3_Silent_p.L830L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1109					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCTGTTAGGATTTTTTCT	0.388000													4	2					0	0	0.000248	0	0
ALMS1	7840	broad.mit.edu	37	2	73651716	73651716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:73651716C>T	ENST00000264448.6	+	5	1034	c.923C>T	c.(922-924)tCt>tTt	p.S308F	ALMS1_ENST00000409009.1_Missense_Mutation_p.S266F|ALMS1_ENST00000377715.1_Missense_Mutation_p.S308F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	308					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTGTTGGGTCTCAGTGCCCT	0.433000													10	25					0	0	0.008291	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839204	93839204	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:93839204G>A	ENST00000315765.9	+	17	2961	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	985	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATAATGAACGAAGATACAAT	0.338000													11	5					0	0	0.001368	0	0
C2orf80	389073	broad.mit.edu	37	2	209046021	209046021	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:209046021G>A	ENST00000341287.4	-	5	410	c.215C>T	c.(214-216)cCa>cTa	p.P72L	C2orf80_ENST00000451346.1_Missense_Mutation_p.P53L|C2orf80_ENST00000453017.1_Missense_Mutation_p.P72L	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	72										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCCATGGAGTGGTATTTTCCT	0.353000													17	26					0	0	0.006122	0	0
SPATA16	83893	broad.mit.edu	37	3	172642095	172642095	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:172642095G>A	ENST00000351008.3	-	8	1424	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	414					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CAGACCGAAAGGTGTTTTATG	0.333000													27	24					0	0	0.008361	0	0
ATP9A	10079	broad.mit.edu	37	20	50235535	50235535	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:50235535C>T	ENST00000338821.5	-	20	2427	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	ATP9A_ENST00000311637.5_Silent_p.R585R|ATP9A_ENST00000402822.1_Silent_p.R600R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	721					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AATCATGCTTCCTGCGGAAGG	0.612000													40	10					0	0	0.002852	0	0
CCNB3	85417	broad.mit.edu	37	X	50094635	50094635	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:50094635C>T	ENST00000376042.1	+	13	4419	c.4121C>T	c.(4120-4122)gCc>gTc	p.A1374V	CCNB3_ENST00000376038.1_Missense_Mutation_p.A270V|CCNB3_ENST00000348603.2_Missense_Mutation_p.A270V|CCNB3_ENST00000276014.7_Missense_Mutation_p.A1374V			Q8WWL7	CCNB3_HUMAN	cyclin B3	1374					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAATCCCTGCCTTGGATATG	0.483000													13	22					0	0	0.002450	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215473	21215473	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:21215473G>A	ENST00000342679.4	+	10	1043	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236Q|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCATCCTGCGGTTCCCTTAC	0.672000													7	30					0	0	0.003080	0	0
OR52K2	119774	broad.mit.edu	37	11	4471197	4471197	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4471197G>A	ENST00000325719.4	+	1	673	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTATTGTGGTGTTGGACCT	0.502000													51	29					0	0	0.003610	0	0
RBL1	5933	broad.mit.edu	37	20	35683995	35683995	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:35683995C>T	ENST00000373664.3	-	11	1494	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	RBL1_ENST00000344359.3_Missense_Mutation_p.M476I	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	476	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTTCCTGAACCATTACAGTCT	0.388000													17	25					0	0	0.006122	0	0
RECQL	5965	broad.mit.edu	37	12	21636367	21636367	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21636367G>C	ENST00000444129.2	-	6	1111	c.643C>G	c.(643-645)Cga>Gga	p.R215G	RECQL_ENST00000421138.2_Missense_Mutation_p.R215G	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	215	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGCAATTCGAGTAAATCTC	0.383000								Other identified genes with known or suspected DNA repair function					19	17					0	0	0.001882	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													17	26					0	0	0.006122	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001489	149001489	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:149001489C>T	ENST00000333677.6	+	9	1362	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	400	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCACTCAACTCGCTGCTAGTG	0.587000													14	28					0	0	0.002450	0	0
UGT8	7368	broad.mit.edu	37	4	115544722	115544722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:115544722C>T	ENST00000310836.6	+	2	1208	c.686C>T	c.(685-687)tCc>tTc	p.S229F	UGT8_ENST00000394511.3_Missense_Mutation_p.S229F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	229					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCAGAGAAGTCCATGTATGAT	0.453000													12	43					0	0	0.000978	0	0
TLR1	7096	broad.mit.edu	37	4	38799722	38799722	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:38799722G>A	ENST00000308979.2	-	4	1004	c.731C>T	c.(730-732)cCa>cTa	p.P244L	TLR1_ENST00000502213.2_Missense_Mutation_p.P244L	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	244					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATAACTTTGGATTTGTTTG	0.338000													4	8					0	0	0.000248	0	0
RETNLB	84666	broad.mit.edu	37	3	108475946	108475946	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:108475946G>A	ENST00000295755.6	-	1	285	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	29					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TATCCATAACGGAGTCTAAGG	0.512000													13	8					0	0	0.001368	0	0
COQ7	10229	broad.mit.edu	37	16	19083279	19083279	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19083279C>T	ENST00000321998.5	+	2	169	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	COQ7_ENST00000569127.1_Missense_Mutation_p.R12C|COQ7_ENST00000568985.1_Missense_Mutation_p.R35C|COQ7_ENST00000544894.2_5'UTR	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	35					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TGTCAGATTTCGCAGTTCAGG	0.428000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	47					0	0	0.004878	0	0
NEB	4703	broad.mit.edu	37	2	152359377	152359377	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:152359377C>T	ENST00000397345.3	-	167	24060	c.23858G>A	c.(23857-23859)gGg>gAg	p.G7953E	NEB_ENST00000498015.2_Intron|NEB_ENST00000172853.10_Missense_Mutation_p.G6252E|NEB_ENST00000427231.2_Missense_Mutation_p.G7953E|NEB_ENST00000397336.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.G7953E|NEB_ENST00000409198.1_Missense_Mutation_p.G6252E|NEB_ENST00000509223.2_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.G7953E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTCCTTTCCCCAAATTTTC	0.418000													8	10					0	0	0.008291	0	0
KRI1	65095	broad.mit.edu	37	19	10670361	10670361	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10670361G>A	ENST00000312962.6	-	11	988	c.969C>T	c.(967-969)atC>atT	p.I323I	KRI1_ENST00000361821.5_Silent_p.I319I	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	323	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGGAGGACGCGATGCTGCGTG	0.617000													14	20					0	0	0.003163	0	0
SCN7A	6332	broad.mit.edu	37	2	167262832	167262832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167262832C>T	ENST00000409855.1	-	25	4433	c.4307G>A	c.(4306-4308)tGg>tAg	p.W1436*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1436					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATCCCATCCCAACCAGCAAA	0.393000													40	92					0	0	0.002222	0	0
FAM193A	8603	broad.mit.edu	37	4	2648459	2648459	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:2648459C>T	ENST00000324666.5	+	5	689	c.338C>T	c.(337-339)aCc>aTc	p.T113I	FAM193A_ENST00000502458.1_Missense_Mutation_p.T113I|FAM193A_ENST00000505311.1_Missense_Mutation_p.T113I|FAM193A_ENST00000382839.3_Missense_Mutation_p.T113I|FAM193A_ENST00000545951.1_Missense_Mutation_p.T113I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	113										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACATACAGTACCTTGCTGCAG	0.567000													45	12					0	0	0.002852	0	0
PTPN14	5784	broad.mit.edu	37	1	214556954	214556954	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:214556954G>A	ENST00000366956.5	-	13	2438	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	748					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACTCAGGCGGGGGCTTGTTGG	0.657000													18	49					0	0	0.006122	0	0
ANGPT1	284	broad.mit.edu	37	8	108264104	108264104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:108264104C>T	ENST00000520734.1	-	8	1161	c.876G>A	c.(874-876)atG>atA	p.M292I	ANGPT1_ENST00000520052.1_Missense_Mutation_p.M291I|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	492	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAGGTCGAATCATCATAGTTG	0.413000													12	34					0	0	0.003163	0	0
PPEF1	5475	broad.mit.edu	37	X	18824656	18824656	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:18824656C>T	ENST00000361511.4	+	15	1881	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.R410C|PPEF1_ENST00000349874.5_Missense_Mutation_p.R401C|PPEF1_ENST00000544635.1_Missense_Mutation_p.R398C	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	463					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCAGCCTCTTCGCCAAAGGTG	0.478000													35	44					0	0	0.003755	0	0
SYNE2	23224	broad.mit.edu	37	14	64574244	64574244	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:64574244C>T	ENST00000357395.3	+	66	12827	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	SYNE2_ENST00000394768.2_Silent_p.S561S|SYNE2_ENST00000554584.1_Silent_p.S4191S|SYNE2_ENST00000555002.1_Silent_p.S810S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.S4176S|SYNE2_ENST00000358025.3_Silent_p.S4176S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4176					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGATAATTCCATGGCACAAA	0.458000													34	96					0	0	0.003755	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542000													6	10					0	0	0.003080	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726896	31726896	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31726896C>T	ENST00000493662.2	+	16	1456	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	MSH5_ENST00000534153.4_Missense_Mutation_p.P467L|MSH5_ENST00000375703.3_Missense_Mutation_p.P450L|MSH5_ENST00000375750.3_Missense_Mutation_p.P450L|MSH5_ENST00000375740.3_Missense_Mutation_p.P467L|MSH5_ENST00000395853.1_Missense_Mutation_p.P124L|MSH5_ENST00000375742.3_Missense_Mutation_p.P467L|MSH5_ENST00000431848.2_Missense_Mutation_p.P149L|MSH5_ENST00000375755.3_Missense_Mutation_p.P450L																							CTTTCTATTCCCCGCCTGCCT	0.498000													150	425					0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79400700	79400700	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:79400700T>C	ENST00000264895.6	+	56	8711	c.8271T>C	c.(8269-8271)ctT>ctC	p.L2757L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2752	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTCATGCTTATTGATGACA	0.507000													12	31					0	0	0.003163	0	0
FEN1	2237	broad.mit.edu	37	11	61563189	61563189	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:61563189C>T	ENST00000305885.2	+	2	769	c.356C>T	c.(355-357)gCc>gTc	p.A119V	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	119					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGCTGGGGCCGAGCAGGAG	0.587000								Editing and processing nucleases					21	10					0	0	0.001523	0	0
EBF1	1879	broad.mit.edu	37	5	158223377	158223377	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:158223377G>A	ENST00000313708.6	-	9	1167	c.885C>T	c.(883-885)ttC>ttT	p.F295F	EBF1_ENST00000517373.1_Silent_p.F287F|EBF1_ENST00000380654.4_Silent_p.F264F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	295	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATGGTACCGAATATGACCT	0.433000			T	HMGA2	lipoma								16	10					0	0	0.006122	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969462	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:240969462C>T	ENST00000366565.1	-	15	1628	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	RGS7_ENST00000366564.1_Missense_Mutation_p.R416Q|RGS7_ENST00000446183.2_Missense_Mutation_p.R332Q|RGS7_ENST00000366562.4_Missense_Mutation_p.R416Q|RGS7_ENST00000401882.1_Missense_Mutation_p.R363Q|RGS7_ENST00000407727.1_Missense_Mutation_p.R416Q|RGS7_ENST00000366563.1_Missense_Mutation_p.R416Q|RGS7_ENST00000331110.7_Missense_Mutation_p.R390Q|RGS7_ENST00000348120.2_Missense_Mutation_p.R363Q	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	416	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAATGTGTATCGTCCAGGTTC	0.453000													23	60					0	0	0.004656	0	0
FLG	2312	broad.mit.edu	37	1	152284360	152284360	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152284360C>T	ENST00000368799.1	-	3	3037	c.3002G>A	c.(3001-3003)aGc>aAc	p.S1001N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1001	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGGAGCTGTCTGCAGA	0.562000									Ichthyosis				93	268					0	0	0.003610	0	0
GKN2	200504	broad.mit.edu	37	2	69173470	69173470	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69173470G>A	ENST00000481498.1	-	5	456	c.438C>T	c.(436-438)atC>atT	p.I146I	GKN2_ENST00000328895.4_Silent_p.I146I			Q86XP6	GKN2_HUMAN	gastrokine 2	146	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TATACAAAGGGATATGTTTGC	0.448000													42	60					0	0	0.003610	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028341	142028341	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142028341G>A	ENST00000390353.2	+	0	132																											GTGTCACTCAGACCCCAAAAT	0.522000													23	56					0	0	0.001882	0	0
ANK3	288	broad.mit.edu	37	10	61833542	61833542	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61833542G>A	ENST00000280772.1	-	37	7288	c.7097C>T	c.(7096-7098)tCc>tTc	p.S2366F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2366					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCTCCCCGGGATAAGTCTTT	0.388000													25	26					0	0	0.006320	0	0
TRIP12	9320	broad.mit.edu	37	2	230632389	230632389	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:230632389G>A	ENST00000283943.5	-	41	6038	c.5860C>T	c.(5860-5862)Ccc>Tcc	p.P1954S	TRIP12_ENST00000389045.3_Missense_Mutation_p.P1684S|TRIP12_ENST00000389044.4_Missense_Mutation_p.P2002S	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1954	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATTACAGAGGGCAAGAAGTCA	0.408000													23	41					0	0	0.003330	0	0
HDAC6	10013	broad.mit.edu	37	X	48674977	48674977	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48674977C>T	ENST00000334136.5	+	19	1906	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	HDAC6_ENST00000376619.2_Silent_p.F576F|HDAC6_ENST00000444343.2_Silent_p.F590F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	576	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGTACCTTCGCCTGTGCAC	0.602000													18	13					0	0	0.008871	0	0
CBL	867	broad.mit.edu	37	11	119149279	119149279	+	Silent	SNP	C	C	T	rs148368481		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119149279C>T	ENST00000264033.4	+	9	1663	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	429	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.I429_F434del(1)|p.I429I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGAACCCATCGTGGTAGATC	0.473000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				29	16					0	0	0.008361	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446429	169446429	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446429G>A	ENST00000236137.5	-	2	1007	c.771C>T	c.(769-771)atC>atT	p.I257I	SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	257					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TATTTAGAGGGATTTTTGACT	0.488000													15	97					0	0	0.007413	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822720	26822720	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26822720G>A	ENST00000444914.3	+	10	1923	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	SLC13A2_ENST00000545060.1_Silent_p.Q409Q|SLC13A2_ENST00000537681.1_Silent_p.Q381Q|SLC13A2_ENST00000314669.5_Silent_p.Q452Q	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	452						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCCACTGCAGAGTGTGCCAG	0.622000													23	40					0	0	0.002780	0	0
TRMU	55687	broad.mit.edu	37	22	46748035	46748035	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:46748035C>T	ENST00000290846.4	+	6	1009	c.669C>T	c.(667-669)ttC>ttT	p.F223F	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Silent_p.F223F	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	223						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GCATGTGTTTCATCGGGAAGA	0.567000													62	161					0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30500600	30500600	+	Missense_Mutation	SNP	G	G	A	rs35543036		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:30500600G>A	ENST00000356798.6	+	11	1286	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	ITGAL_ENST00000358164.5_Missense_Mutation_p.G286E|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	369					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGGCAGTAGGAGCCAAGGAC	0.607000													22	38					0	0	0.002299	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672856	10672856	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:10672856C>T	ENST00000302079.6	-	50	7647	c.7648G>A	c.(7648-7650)Gat>Aat	p.D2550N	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D570N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.D405N|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2613N|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2638N			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2613						integral to membrane	ion channel activity										ATGGTAATATCCATGAAATTA	0.353000													9	6					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11597737	11597737	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:11597737C>T	ENST00000262442.3	+	22	4913	c.4845C>T	c.(4843-4845)atC>atT	p.I1615I	DNAH9_ENST00000454412.2_Silent_p.I1615I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1615	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)		TGTTAGACATCCTTTCCAACG	0.567000													6	17					0	0	0.001168	0	0
CACNB1	782	broad.mit.edu	37	17	37340360	37340360	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:37340360G>A	ENST00000394303.3	-	10	1029	c.822C>T	c.(820-822)tcC>tcT	p.S274S	CACNB1_ENST00000394310.3_Silent_p.S274S|CACNB1_ENST00000344140.5_Silent_p.S319S	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	274					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTTAGCCAGGGAAATATCTG	0.582000													14	17					0	0	0.004990	0	0
GABRA4	2557	broad.mit.edu	37	4	46994956	46994956	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:46994956C>T	ENST00000264318.3	-	2	1076	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTGGGGATTCGTTTAAACTG	0.448000													15	19					0	0	0.003163	0	0
LAIR1	3903	broad.mit.edu	37	19	54867598	54867598	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54867598C>T	ENST00000391743.3	-	8	908	c.628G>A	c.(628-630)Gga>Aga	p.G210R	LAIR1_ENST00000391742.2_Missense_Mutation_p.G228R|LAIR1_ENST00000348231.4_Missense_Mutation_p.G211R|LAIR1_ENST00000313038.6_Missense_Mutation_p.G221R|LAIR1_ENST00000474878.1_Missense_Mutation_p.G210R|LAIR1_ENST00000434277.2_Missense_Mutation_p.G227R|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	228						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCAGGAAGTCCATTGACTGTG	0.488000													20	53					0	0	0.002299	0	0
METTL17	64745	broad.mit.edu	37	14	21465017	21465017	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21465017C>T	ENST00000339374.6	+	14	1572	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	METTL17_ENST00000556670.2_Missense_Mutation_p.P438S|METTL17_ENST00000382985.4_Missense_Mutation_p.S471F|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	447					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGCGTTTCCTCCATCTACGGC	0.527000													18	14					0	0	0.007413	0	0
TLL1	7092	broad.mit.edu	37	4	166999163	166999163	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166999163C>T	ENST00000061240.2	+	18	3070	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L	TLL1_ENST00000507499.1_Missense_Mutation_p.P831L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	808	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGCGCCACTCCTGGCCACCGA	0.473000													10	11					0	0	0.006214	0	0
TDRD3	81550	broad.mit.edu	37	13	61103108	61103108	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:61103108C>T	ENST00000196169.3	+	11	2258	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	TDRD3_ENST00000535286.1_Silent_p.F583F|TDRD3_ENST00000377881.2_Silent_p.F490F|TDRD3_ENST00000377894.2_Silent_p.F490F	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	490					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTAATAGTTTCATTGGTGTTC	0.348000													6	10					0	0	0.001168	0	0
GBGT1	26301	broad.mit.edu	37	9	136029372	136029372	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:136029372C>T	ENST00000372043.3	-	7	902	c.617G>A	c.(616-618)gGa>gAa	p.G206E	GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372040.3_Silent_p.R212R|GBGT1_ENST00000540636.1_Silent_p.R195R	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCCACGGGTTCCGAAACACCA	0.612000													29	16					0	0	0.008361	0	0
COL4A4	1286	broad.mit.edu	37	2	227924164	227924164	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227924164C>T	ENST00000396625.3	-	28	2547	c.2340G>A	c.(2338-2340)ggG>ggA	p.G780G	COL4A4_ENST00000329662.7_Silent_p.G780G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	780	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCCTTTTATCCCTGGCACTC	0.567000													44	73					0	0	0.003610	0	0
COL19A1	1310	broad.mit.edu	37	6	70890237	70890237	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:70890237C>T	ENST00000322773.4	+	43	2803	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P523S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	901	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCAGGAGTTCCAGGGGAACC	0.453000													19	38					0	0	0.003330	0	0
TGM1	7051	broad.mit.edu	37	14	24724431	24724431	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:24724431C>T	ENST00000206765.6	-	12	1797	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	TGM1_ENST00000544573.1_Silent_p.E116E	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	558					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGCTGCTGTCTCTACTGCCT	0.622000													13	35					0	0	0.001855	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967404	106967404	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106967404C>T	ENST00000390622.2	-	0	350																											TGGAAAAAATCCCTTCCTCAG	0.547000													20	23					0	0	0.001523	0	0
ATP2B2	491	broad.mit.edu	37	3	10442734	10442734	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:10442734G>A	ENST00000397077.1	-	7	1259	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ATP2B2_ENST00000352432.4_Silent_p.F228F|ATP2B2_ENST00000383800.4_Silent_p.F228F|ATP2B2_ENST00000360273.2_Silent_p.F228F|ATP2B2_ENST00000343816.4_Silent_p.F228F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	228					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCTGGATGAAGAGGCCGT	0.577000													17	6					0	0	0.004990	0	0
PROM2	150696	broad.mit.edu	37	2	95954033	95954033	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:95954033G>A	ENST00000317620.9	+	21	2452	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	PROM2_ENST00000542147.1_Missense_Mutation_p.M724I|PROM2_ENST00000403131.2_Missense_Mutation_p.M773I|PROM2_ENST00000317668.4_Missense_Mutation_p.M773I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	773						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGTGTGACATGATGGCTGACC	0.642000													30	50					0	0	0.002096	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090447	238090447	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:238090447C>T	ENST00000450451.1	+	0	1953					NR_027247.2																						TGCTGCTGATCGAGGCCTGCC	0.577000													7	26					0	0	0.001984	0	0
CAMK1D	57118	broad.mit.edu	37	10	12866523	12866523	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:12866523G>A	ENST00000378847.3	+	9	1230	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	CAMK1D_ENST00000378845.1_Missense_Mutation_p.R298Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	298	Autoinhibitory domain (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R298Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GCCCAGATCCGGAAAAACTTT	0.502000													45	49					0	0	0.003610	0	0
TAS2R4	50832	broad.mit.edu	37	7	141479077	141479077	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141479077C>T	ENST00000247881.2	+	1	836	c.789C>T	c.(787-789)tcC>tcT	p.S263S	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	263					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGACCAAATCCATTTGTCTGA	0.408000													32	45					0	0	0.002836	0	0
MUM1	84939	broad.mit.edu	37	19	1360408	1360408	+	Missense_Mutation	SNP	C	C	T	rs117812723	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1360408C>T	ENST00000311401.5	+	5	670	c.284C>T	c.(283-285)tCg>tTg	p.S95L	MUM1_ENST00000415183.3_Missense_Mutation_p.S164L|MUM1_ENST00000591806.1_Missense_Mutation_p.S164L|MUM1_ENST00000344663.3_Missense_Mutation_p.S164L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	163					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCAAGTTCGTTCACTTGT	0.557000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	20					0	0	0.001368	0	0
DCC	1630	broad.mit.edu	37	18	50731608	50731608	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:50731608A>T	ENST00000442544.2	+	10	2212	c.1596A>T	c.(1594-1596)gaA>gaT	p.E532D	DCC_ENST00000581580.1_Missense_Mutation_p.E187D|DCC_ENST00000412726.1_Missense_Mutation_p.E380D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	532	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGCCAGTAGAAAACCTGCAAG	0.388000													12	107					0	0	0.000978	0	0
SCN5A	6331	broad.mit.edu	37	3	38646229	38646229	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:38646229G>A	ENST00000413689.1	-	11	1702	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	SCN5A_ENST00000414099.2_Silent_p.P503P|SCN5A_ENST00000333535.4_Silent_p.P503P|SCN5A_ENST00000450102.2_Silent_p.P503P|SCN5A_ENST00000449557.2_Silent_p.P503P|SCN5A_ENST00000443581.1_Silent_p.P503P|SCN5A_ENST00000425664.1_Silent_p.P503P|SCN5A_ENST00000451551.2_Silent_p.P503P|SCN5A_ENST00000423572.2_Silent_p.P503P|SCN5A_ENST00000455624.2_Silent_p.P503P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	503					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCATTGCTCTGGGACCATCTT	0.537000													9	8					0	0	0.006214	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333303	227333303	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:227333303T>A	ENST00000366769.3	-	8	2321	c.1030A>T	c.(1030-1032)Agt>Tgt	p.S344C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S344C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S344C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S344C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S344C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S344C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S344C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	344	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S344C(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAATTCCACTGAAAAATGGG	0.368000													24	66					0	0	0.004656	0	0
MYH1	4619	broad.mit.edu	37	17	10419317	10419317	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10419317C>T	ENST00000226207.5	-	5	525	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	144	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTTTTGCCTCGGTAGGCTGT	0.512000													51	63					0	0	0.003610	0	0
ZNF528	84436	broad.mit.edu	37	19	52919895	52919895	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52919895G>A	ENST00000360465.3	+	7	2216	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATCACCATAGAATTCACATT	0.423000													13	27					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179655479	179655479	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179655479C>T	ENST00000589042.1	-	11	1980	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E586K|TTN_ENST00000360870.5_Missense_Mutation_p.E586K|TTN_ENST00000342992.6_Missense_Mutation_p.E586K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	586							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)			GTGGTAGTTTCTTCTTGAGCT	0.423000													29	50					0	0	0.008361	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574378	140574378	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140574378C>T	ENST00000239446.4	+	1	2437	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGCTACCAGTATGAGG	0.622000													33	55					0	0	0.002836	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220149	13220149	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13220149C>T	ENST00000197268.8	+	7	1181	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	354						integral to membrane		p.S354*(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGAGACAGCTCACCACCTTCT	0.468000													21	31					0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9073021	9073021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9073021C>T	ENST00000397910.4	-	3	14628	c.14425G>A	c.(14425-14427)Gat>Aat	p.D4809N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4811	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						GATATGTCATCCAAAGTGTTG	0.463000													20	30					0	0	0.002299	0	0
OGDHL	55753	broad.mit.edu	37	10	50953880	50953880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:50953880C>T	ENST00000374103.4	-	11	1525	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	OGDHL_ENST00000419399.1_Nonsense_Mutation_p.W423*|OGDHL_ENST00000432695.1_Nonsense_Mutation_p.W271*	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	480					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGTGTTTCTCCATTCGGCTG	0.587000													9	27					0	0	0.004482	0	0
C6	729	broad.mit.edu	37	5	41142959	41142959	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:41142959C>T	ENST00000263413.3	-	18	3037	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	C6_ENST00000337836.5_Missense_Mutation_p.E925K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	925	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCAGTATTTCCATCTTCCTG	0.418000													19	37					0	0	0.002780	0	0
CADPS	8618	broad.mit.edu	37	3	62423808	62423808	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:62423808C>T	ENST00000383710.4	-	28	4097	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	CADPS_ENST00000357948.3_Missense_Mutation_p.E1171K|CADPS_ENST00000283269.9_Missense_Mutation_p.E1211K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1250	Mediates targeting and association with DCVs (By similarity).			E -> G (in Ref. 1; AAM61861 and 5; CAD38751).	exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1211K(1)|p.E1250K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TACATCTCCTCATTGACCTTA	0.453000													8	31					0	0	0.003080	0	0
CNNM4	26504	broad.mit.edu	37	2	97475042	97475042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:97475042C>T	ENST00000540067.1	+	7	1112	c.665C>T	c.(664-666)tCc>tTc	p.S222F	CNNM4_ENST00000377075.2_Intron			Q6P4Q7	CNNM4_HUMAN	cyclin M4	0	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATGAACTCATCCCTTCCTCAT	0.582000													6	8					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216061779	216061779	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216061779C>T	ENST00000366943.2	-	41	8598	c.8212G>A	c.(8212-8214)Gat>Aat	p.D2738N	USH2A_ENST00000307340.3_Missense_Mutation_p.D2738N|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2738	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGACTGCATCGGGTTCCAGC	0.502000										HNSCC(13;0.011)			13	29					0	0	0.001855	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460438	32460438	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:32460438G>A	ENST00000395900.1	+	0	1316				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ATGCAGAGGCGAGGACAGCCC	0.532000													8	11					0	0	0.003080	0	0
LRRC30	339291	broad.mit.edu	37	18	7231687	7231687	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:7231687C>T	ENST00000383467.2	+	1	565	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	184										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTGTGTTCTCCCTGAAGGAA	0.552000													55	20					0	0	0.003610	0	0
DUSP12	11266	broad.mit.edu	37	1	161719773	161719773	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:161719773C>T	ENST00000367943.4	+	1	214	c.182C>T	c.(181-183)tCg>tTg	p.S61L	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	61					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGTGGACTCGGAGGAGCCC	0.647000													10	41					0	0	0.006214	0	0
TET3	200424	broad.mit.edu	37	2	74274556	74274556	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:74274556C>T	ENST00000409262.3	+	1	1107	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	369							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCCCCATCCCCTGTACTTC	0.657000													9	9					0	0	0.008291	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735169	12735169	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12735169G>A	ENST00000380682.1	+	15	3097	c.2591G>A	c.(2590-2592)gGa>gAa	p.G864E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	864					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGAGAAGGGACTGGATAAT	0.542000													12	41					0	0	0.001855	0	0
THSD7B	80731	broad.mit.edu	37	2	137852488	137852488	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:137852488C>T	ENST00000409968.1	+	4	1174	c.996C>T	c.(994-996)atC>atT	p.I332I	THSD7B_ENST00000413152.2_Silent_p.I301I|THSD7B_ENST00000543459.1_Silent_p.I191I|THSD7B_ENST00000272643.3_Silent_p.I332I					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)		AGTCCTGCATCATGCCCAAAG	0.488000													31	44					0	0	0.002096	0	0
MYO3B	140469	broad.mit.edu	37	2	171092559	171092559	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:171092559C>T	ENST00000334231.6	+	7	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.S221F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S221F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	221	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACGTCTGGTCCTTGGGGATC	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	51					0	0	0.001786	0	0
ZNF610	162963	broad.mit.edu	37	19	52869116	52869116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52869116C>T	ENST00000601151.1	+	5	808	c.356C>T	c.(355-357)tCa>tTa	p.S119L	ZNF610_ENST00000403906.3_Missense_Mutation_p.S162L|ZNF610_ENST00000327920.8_Missense_Mutation_p.S162L|ZNF610_ENST00000321287.8_Missense_Mutation_p.S162L	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCCTCAGTTTCACCACTTCAA	0.343000													19	47					0	0	0.008871	0	0
RNF213	57674	broad.mit.edu	37	17	78264460	78264460	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78264460A>T	ENST00000582970.1	+	7	1347	c.1204A>T	c.(1204-1206)Atc>Ttc	p.I402F	RNF213_ENST00000456466.1_Missense_Mutation_p.I402F|RNF213_ENST00000319921.4_Missense_Mutation_p.I402F|RNF213_ENST00000508628.2_Missense_Mutation_p.I451F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	402										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAAGTCTTCATCAGAGGAGG	0.517000													14	29					0	0	0.001855	0	0
PLCE1	51196	broad.mit.edu	37	10	96044656	96044656	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:96044656G>A	ENST00000260766.3	+	22	5603	c.4969G>A	c.(4969-4971)Gaa>Aaa	p.E1657K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1349K|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1349K|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1657K|PLCE1-AS1_ENST00000425267.3_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1657					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAATAAAAAGGAAAGCAGACA	0.338000													13	12					0	0	0.001855	0	0
PTPRT	11122	broad.mit.edu	37	20	40710649	40710649	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:40710649C>T	ENST00000373198.3	-	31	4446	c.4211G>A	c.(4210-4212)gGa>gAa	p.G1404E	PTPRT_ENST00000373187.1_Missense_Mutation_p.G1382E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1392E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1381E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1385E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1372E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1391E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1382	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTACGGCCTCCCCCATTTCT	0.493000													11	63					0	0	0.000978	0	0
OR1B1	347169	broad.mit.edu	37	9	125391730	125391730	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:125391730G>A	ENST00000304833.3	-	1	122	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGAAGAAGAGGAGAGTGTAG	0.507000													18	9					0	0	0.007413	0	0
WARS	7453	broad.mit.edu	37	14	100820025	100820025	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:100820025C>T	ENST00000355338.2	-	6	1342	c.725_splice	c.e6+1	p.G242_splice	WARS_ENST00000358655.4_Splice_Site_p.G201_splice|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Splice_Site_p.G201_splice|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Splice_Site_p.G242_splice|WARS_ENST00000392882.2_Splice_Site_p.G242_splice|WARS_ENST00000556645.1_Splice_Site_p.G201_splice	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	242					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCTCCTTACCCCATGTAGTCC	0.458000													13	13					0	0	0.002450	0	0
ZIK1	284307	broad.mit.edu	37	19	58101380	58101380	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58101380T>C	ENST00000597850.1	+	4	416	c.199_splice	c.e4-1	p.G67_splice	ZIK1_ENST00000307468.4_Splice_Site_p.V12_splice|ZIK1_ENST00000599456.1_Splice_Site_p.G12_splice|ZIK1_ENST00000536878.2_Splice_Site_p.G54_splice	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTTTCAGGTTGTGGCCATG	0.443000													8	12					0	0	0.003080	0	0
GLP2R	9340	broad.mit.edu	37	17	9792876	9792876	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:9792876G>A	ENST00000262441.5	+	13	2029	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	GLP2R_ENST00000574745.1_Missense_Mutation_p.A326T	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	506					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCTACATCTAGCCATGCGAGG	0.622000													21	38					0	0	0.003954	0	0
FAM9C	171484	broad.mit.edu	37	X	13057999	13057999	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:13057999C>T	ENST00000333995.3	-	6	496	c.366G>A	c.(364-366)ccG>ccA	p.P122P	FAM9C_ENST00000380625.3_Silent_p.P122P|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	122						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CAAGGACATTCGGCAACTTCA	0.363000													18	48					0	0	0.002299	0	0
MYLK3	91807	broad.mit.edu	37	16	46766493	46766493	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:46766493C>T	ENST00000394809.4	-	4	1204	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	MYLK3_ENST00000536476.1_Silent_p.E22E	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	363					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTGCTGGAGCCTCTGTGGTGA	0.647000													13	3					0	0	0.001855	0	0
NFIA	4774	broad.mit.edu	37	1	61872334	61872334	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:61872334C>G	ENST00000403491.3	+	9	1839	c.1355C>G	c.(1354-1356)cCg>cGg	p.P452R	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.P409R|NFIA_ENST00000371185.2_Missense_Mutation_p.P430R|NFIA_ENST00000371187.3_Missense_Mutation_p.P452R|NFIA_ENST00000371189.4_Missense_Mutation_p.P497R|NFIA_ENST00000357977.5_Missense_Mutation_p.P100R|NFIA_ENST00000371191.1_Missense_Mutation_p.P475R|NFIA_ENST00000371184.2_Missense_Mutation_p.P323R|NFIA_ENST00000407417.3_Missense_Mutation_p.P444R	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	452					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTGCCTCTGCCGGTGCCAGAC	0.622000													7	8					0	0	0.001984	0	0
MBL2	4153	broad.mit.edu	37	10	54530430	54530430	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:54530430C>T	ENST00000373968.3	-	2	368	c.304_splice	c.e2+1	p.D102_splice	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	102					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						GGGTCCTTACCCGGACTTTTT	0.557000													12	52					0	0	0.001368	0	0
CDH23	64072	broad.mit.edu	37	10	73553033	73553033	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:73553033C>T	ENST00000224721.6	+	47	6368	c.6363C>T	c.(6361-6363)ttC>ttT	p.F2121F		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2116	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGACCGCTTCCTCATTCATC	0.577000													11	18					0	0	0.008291	0	0
HAND2	9464	broad.mit.edu	37	4	174449922	174449922	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:174449922C>T	ENST00000359562.4	-	1	1458	c.519G>A	c.(517-519)aaG>aaA	p.K173K	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	173					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCACGTCGGTCTTCTTGATCT	0.642000													15	15					0	0	0.002450	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998893	27998893	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:27998893G>A	ENST00000441525.1	-	1	673	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	187										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TACTGCAGGCGGAAACGCTGC	0.557000													7	7					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179427557	179427557	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179427557T>C	ENST00000589042.1	-	326	83526	c.83302A>G	c.(83302-83304)Agt>Ggt	p.S27768G	TTN_ENST00000342175.6_Missense_Mutation_p.S18895G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26127G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25200G|TTN_ENST00000460472.2_Missense_Mutation_p.S18703G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18828G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26127	Fibronectin type-III 102.						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)			ACAGGGGCACTTGGTGAGTCA	0.403000													4	11					0	0	0.000248	0	0
TPSG1	25823	broad.mit.edu	37	16	1272209	1272209	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1272209C>T	ENST00000234798.4	-	5	648	c.644G>A	c.(643-645)gGg>gAg	p.G215E		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	215	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GCAGGCATCCCCGGGGCCCCG	0.692000													19	27					0	0	0.006122	0	0
GIT2	9815	broad.mit.edu	37	12	110426860	110426860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:110426860C>T	ENST00000360185.4	-	4	477	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	GIT2_ENST00000320063.9_Missense_Mutation_p.E105K|GIT2_ENST00000343646.5_Missense_Mutation_p.E105K|GIT2_ENST00000361006.5_Missense_Mutation_p.E105K|GIT2_ENST00000356259.4_Missense_Mutation_p.E105K|GIT2_ENST00000553118.1_Missense_Mutation_p.E105K|GIT2_ENST00000551209.1_Missense_Mutation_p.E105K|GIT2_ENST00000457474.2_Missense_Mutation_p.E105K|GIT2_ENST00000354574.4_Missense_Mutation_p.E105K|GIT2_ENST00000355312.3_Missense_Mutation_p.E105K|GIT2_ENST00000547815.1_Missense_Mutation_p.E105K|GIT2_ENST00000338373.5_Missense_Mutation_p.E105K			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	105	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGATGAATTCCGCTTTATTG	0.438000													26	96					0	0	0.005443	0	0
CD96	10225	broad.mit.edu	37	3	111298075	111298075	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111298075G>A	ENST00000352690.4	+	4	985	c.745G>A	c.(745-747)Gtt>Att	p.V249I	CD96_ENST00000283285.5_Missense_Mutation_p.V265I|CD96_ENST00000438817.2_Missense_Mutation_p.V249I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	265					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CACAGTCAAGGTTTTTGGTAA	0.502000									Opitz Trigonocephaly syndrome				25	25					0	0	0.005443	0	0
RRN3P2	653390	broad.mit.edu	37	16	29115513	29115513	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29115513C>T	ENST00000564580.1	+	0	1448				CTB-134H23.3_ENST00000562618.1_RNA																							AGCACACTCTCGGAATCTCCT	0.468000													8	23					0	0	0.004482	0	0
ATR	545	broad.mit.edu	37	3	142281947	142281947	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:142281947G>A	ENST00000350721.4	-	4	418	c.297C>T	c.(295-297)ttC>ttT	p.F99F	ATR_ENST00000383101.3_Silent_p.F99F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	99					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATTACTGAATTCTTTGA	0.313000								Other conserved DNA damage response genes					48	33					0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3328487	3328487	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:3328487G>A	ENST00000378398.3	+	10	1811	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	PRDM16_ENST00000442529.2_Missense_Mutation_p.E576K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E576K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E577K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E576K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E577K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E576K|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	576					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGCGGGGCCCGAGGAGAAGTT	0.662000			T	EVI1	"""MDS, AML"""								16	27					0	0	0.003163	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142437	41142437	+	Silent	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:41142437T>A	ENST00000361677.1	+	4	972	c.960T>A	c.(958-960)ccT>ccA	p.P320P		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	320										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCAGAACGCCTCCAGGAAACA	0.532000													24	41					0	0	0.003954	0	0
RPTOR	57521	broad.mit.edu	37	17	78933890	78933890	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78933890G>A	ENST00000306801.3	+	30	3852	c.3490G>A	c.(3490-3492)Ggc>Agc	p.G1164S	RPTOR_ENST00000544334.2_Missense_Mutation_p.G1006S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1164					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CATCCCTACGGGCGCAGACAG	0.642000													7	15					0	0	0.004482	0	0
ADCY8	114	broad.mit.edu	37	8	132002703	132002703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:132002703G>A	ENST00000286355.5	-	2	3138	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A349V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	349					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCAGGAAAGCTTGGCGCTG	0.517000										HNSCC(32;0.087)			47	52					0	0	0.003610	0	0
LRBA	987	broad.mit.edu	37	4	151827463	151827463	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:151827463A>T	ENST00000535741.1	-	12	2061	c.1588T>A	c.(1588-1590)Tat>Aat	p.Y530N	LRBA_ENST00000510413.1_Missense_Mutation_p.Y530N|LRBA_ENST00000357115.3_Missense_Mutation_p.Y530N|LRBA_ENST00000507224.1_Missense_Mutation_p.Y530N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	530						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCAAGGCTATATCCTATTACC	0.363000													47	37					0	0	0.003610	0	0
SOGA1	140710	broad.mit.edu	37	20	35467683	35467683	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:35467683G>A	ENST00000237536.4	-	2	1190	c.849C>T	c.(847-849)ctC>ctT	p.L283L	SOGA1_ENST00000357779.3_Silent_p.L45L|SOGA1_ENST00000279034.5_Silent_p.L45L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	45										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGGCGGCACGGAGACTGCGGC	0.662000													75	40					0	0	0.003610	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:192701141G>A	ENST00000304141.4	-	2	1115	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000													57	146					0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11741077	11741077	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:11741077A>G	ENST00000381486.2	+	16	2785	c.2485A>G	c.(2485-2487)Atc>Gtc	p.I829V	GREB1_ENST00000234142.5_Missense_Mutation_p.I829V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	829				I -> S (in Ref. 1; AAG39036).		integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACACCCTCATCAGCCCCTA	0.572000													21	38					0	0	0.003954	0	0
PSAP	5660	broad.mit.edu	37	10	73590882	73590882	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:73590882C>T	ENST00000394936.3	-	4	523		c.e4+1		PSAP_ENST00000394934.1_Splice_Site			P07602	SAP_HUMAN	prosaposin						glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCATCACTTACCATTTCTCCT	0.488000													24	26					0	0	0.008361	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884543	228884543	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:228884543C>T	ENST00000392056.3	-	7	1073	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D343N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	343						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAATAAGCATCTTTTGGAATA	0.413000													31	49					0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13829721	13829721	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13829721G>A	ENST00000265104.4	-	38	6446	c.6342C>T	c.(6340-6342)atC>atT	p.I2114I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2114	AAA 1 (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)					TCACCCTTATGATAATCTGAC	0.473000									Kartagener syndrome				20	38					0	0	0.002780	0	0
OPTC	26254	broad.mit.edu	37	1	203472695	203472695	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:203472695C>T	ENST00000367222.2	+	7	962	c.846C>T	c.(844-846)acC>acT	p.T282T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	282						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATAGAGACCATGCAGAGAG	0.557000													19	49					0	0	0.001523	0	0
CHL1	10752	broad.mit.edu	37	3	369855	369855	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:369855C>T	ENST00000256509.2	+	5	845	c.203C>T	c.(202-204)tCg>tTg	p.S68L	CHL1_ENST00000397491.2_Missense_Mutation_p.S68L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	68	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S68L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGATTTTCGTGGACTAAG	0.338000													28	21					0	0	0.008361	0	0
BAI3	577	broad.mit.edu	37	6	70092801	70092801	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:70092801C>T	ENST00000370598.1	+	31	5175	c.4354C>T	c.(4354-4356)Cgg>Tgg	p.R1452W	BAI3_ENST00000238918.8_Missense_Mutation_p.R658W|BAI3_ENST00000546190.1_Missense_Mutation_p.R416W	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1452W(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACAGATTTCGGGATATACC	0.383000													9	10					0	0	0.000978	0	0
ACAD11	84129	broad.mit.edu	37	3	132347190	132347190	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:132347190G>A	ENST00000264990.6	-	8	2035	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	ACAD11_ENST00000355458.3_Missense_Mutation_p.S355F|ACAD11_ENST00000481970.2_Missense_Mutation_p.S355F|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTACCGTTTGGAGAGTTGTAG	0.373000													18	27					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38718300	38718300	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:38718300A>G	ENST00000359357.3	+	7	945	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E	DNAH8_ENST00000441566.1_Missense_Mutation_p.K231E|DNAH8_ENST00000449981.2_Missense_Mutation_p.K448E					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						AAATGAATCCAAAGATAATGT	0.313000													15	42					0	0	0.008871	0	0
C2orf54	79919	broad.mit.edu	37	2	241831031	241831031	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:241831031C>T	ENST00000307486.8	-	2	315	c.217G>A	c.(217-219)Gga>Aga	p.G73R	C2orf54_ENST00000388934.4_Missense_Mutation_p.G222R|C2orf54_ENST00000402775.2_Missense_Mutation_p.G54R			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	222										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TCAGGGAATCCGGGCATCTGC	0.657000													29	37					0	0	0.005443	0	0
KMT2C	58508	broad.mit.edu	37	7	151877015	151877015	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:151877015G>A	ENST00000355193.2	-	37	7564	c.7346C>T	c.(7345-7347)cCt>cTt	p.P2449L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2449L					lysine (K)-specific methyltransferase 2C																		TCCTAAAGGAGGGGCAACAGG	0.502000													23	30					0	0	0.003330	0	0
PRPH2	5961	broad.mit.edu	37	6	42689950	42689950	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:42689950C>T	ENST00000230381.5	-	1	362	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	41					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTTCAATCTTCAGGAACAGTC	0.498000													33	62					0	0	0.001786	0	0
GABRA1	2554	broad.mit.edu	37	5	161300147	161300147	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:161300147C>T	ENST00000428797.2	+	6	635	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	GABRA1_ENST00000420560.1_Missense_Mutation_p.R94C|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94C|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94C|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94C|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94C	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R94C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGTATTTTTCCGTCAAAGCTG	0.373000													27	49					0	0	0.008361	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561343	55561343	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:55561343C>T	ENST00000436346.1	-	15	3455	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E872K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E872K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E872K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	872					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATACCAATTTCTTTGGATAGG	0.308000													14	26					0	0	0.002450	0	0
GNAI2	2771	broad.mit.edu	37	3	50293647	50293647	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:50293647T>A	ENST00000313601.6	+	5	872	c.488T>A	c.(487-489)aTt>aAt	p.I163N	GNAI2_ENST00000422163.1_Missense_Mutation_p.I147N|GNAI2_ENST00000440628.1_Missense_Mutation_p.I111N|GNAI2_ENST00000266027.5_Missense_Mutation_p.I147N|GNAI2_ENST00000451956.1_Missense_Mutation_p.I126N|GNAI2_ENST00000536647.1_Missense_Mutation_p.I82N|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	163					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTGGAGCGTATTGCACAGAGT	0.602000													8	18					0	0	0.003080	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432355	107432355	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107432355G>A	ENST00000340010.5	-	4	486	c.302C>T	c.(301-303)cCc>cTc	p.P101L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P66L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	101					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAGACTGGGGGAATGTCGAC	0.458000													23	37					0	0	0.002299	0	0
MLLT10	8028	broad.mit.edu	37	10	21903788	21903788	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:21903788G>A	ENST00000377072.3	+	7	886	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	MLLT10_ENST00000446906.2_Missense_Mutation_p.E180K|MLLT10_ENST00000307729.7_Missense_Mutation_p.E180K|MLLT10_ENST00000377059.3_Missense_Mutation_p.E180K	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	180	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCTTTGTGAAGAAGAAGGTAA	0.323000			T	"""MLL, PICALM, CDK6"""	AL								9	24					0	0	0.000978	0	0
PAPPA	5069	broad.mit.edu	37	9	118969825	118969825	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:118969825G>A	ENST00000328252.3	+	3	1938	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	523	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTCAGAGGAGGAGTTGGCAG	0.443000													24	14					0	0	0.003330	0	0
IGSF10	285313	broad.mit.edu	37	3	151171355	151171355	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:151171355A>G	ENST00000282466.3	-	3	531	c.532T>C	c.(532-534)Tac>Cac	p.Y178H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	178					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCTGGAGGTAGCTCAAAGAG	0.438000													6	21					0	0	0.001984	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167364	140167364	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140167364C>T	ENST00000504120.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W	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)			GCTGGTGGAACGGCGGGTGGG	0.672000													33	49					0	0	0.008740	0	0
JAZF1	221895	broad.mit.edu	37	7	27880369	27880369	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:27880369C>T	ENST00000283928.5	-	4	668	c.503G>A	c.(502-504)gGg>gAg	p.G168E	TAX1BP1_ENST00000488564.1_3'UTR|JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	168					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CTTCTCTTCCCCTCCATTCAT	0.527000			T	SUZ12	endometrial stromal tumours								180	275					0	0	0.003610	0	0
OR6B3	150681	broad.mit.edu	37	2	240984529	240984529	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:240984529C>T	ENST00000319423.4	-	1	960	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E321*(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGATGAAGTTCCAGAAGACTA	0.423000													33	60					0	0	0.002836	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703864	156703864	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156703864C>T	ENST00000368216.4	+	6	1330	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	234						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCCACAGCCCTGTGTGAGGA	0.607000													19	62					0	0	0.008871	0	0
ABCC10	89845	broad.mit.edu	37	6	43412002	43412002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:43412002C>T	ENST00000244533.3	+	10	2875	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	ABCC10_ENST00000372530.4_Missense_Mutation_p.A867V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	867						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGGAGGGCGCCGTGGCCTTG	0.587000													11	20					0	0	0.000978	0	0
NLRP3	114548	broad.mit.edu	37	1	247582221	247582221	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:247582221C>T	ENST00000366497.2	+	2	905	c.125C>T	c.(124-126)cCg>cTg	p.P42L	NLRP3_ENST00000348069.2_Missense_Mutation_p.P42L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P42L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P42L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P42L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P42L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCCCCCTCCCGAGGGGTCAG	0.557000													7	34					0	0	0.001984	0	0
NBPF1	55672	broad.mit.edu	37	1	16893737	16893737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:16893737G>A	ENST00000430580.2	-	25	3663	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	926	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTTCTGTAGGGCTGGCATGAG	0.478000													30	1054					0	0	0.005443	0	0
MR1	3140	broad.mit.edu	37	1	181022797	181022797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:181022797G>A	ENST00000367580.5	+	5	974	c.969G>A	c.(967-969)tgG>tgA	p.W323*	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Nonsense_Mutation_p.W231*|MR1_ENST00000367579.3_Nonsense_Mutation_p.W278*|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	323					antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TTCTAGTCTGGAGAAGAAGGC	0.522000													31	88					0	0	0.003271	0	0
CCDC178	374864	broad.mit.edu	37	18	30926233	30926233	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:30926233C>T	ENST00000383096.3	-	9	782	c.600G>A	c.(598-600)atG>atA	p.M200I	CCDC178_ENST00000583930.1_Missense_Mutation_p.M200I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.M200I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M200I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M200I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M200I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M200I					coiled-coil domain containing 178																		AGTCAATTTTCATGTTAATCA	0.383000													10	40					0	0	0.008291	0	0
CPS1	1373	broad.mit.edu	37	2	211473172	211473172	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:211473172C>T	ENST00000233072.5	+	19	2476	c.2280C>T	c.(2278-2280)gcC>gcT	p.A760A	CPS1_ENST00000430249.2_Silent_p.A766A|CPS1_ENST00000451903.2_Silent_p.A309A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	760					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGACATCAGCCTGTTTTGAAC	0.448000													29	46					0	0	0.008361	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576430	33576430	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:33576430G>A	ENST00000504830.1	-	19	4036	c.3701C>T	c.(3700-3702)cCc>cTc	p.P1234L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1149L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1234	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCAACTCTGGGTGTCCCAGT	0.572000										HNSCC(64;0.19)			30	43					0	0	0.006320	0	0
PDHA2	5161	broad.mit.edu	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:96762199C>T	ENST00000295266.4	+	1	961	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R300C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGTCAGTTATCGTACACGAGA	0.433000													7	21					0	0	0.004482	0	0
LVRN	206338	broad.mit.edu	37	5	115320281	115320281	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115320281G>A	ENST00000357872.4	+	3	977	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		285					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTCTGAAAAAGAAGATGTGAA	0.363000													9	12					0	0	0.000978	0	0
CDH8	1006	broad.mit.edu	37	16	61687532	61687532	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687532C>T	ENST00000577390.1	-	12	3334	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	794					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E794K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGTCACTTTCACCAACAGAG	0.448000													14	4					0	0	0.003163	0	0
SEC24A	10802	broad.mit.edu	37	5	134028336	134028336	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:134028336G>A	ENST00000398844.2	+	12	2056	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	SEC24A_ENST00000322887.4_Missense_Mutation_p.E590K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	590					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTAAATGAAAGTAAAGA	0.244000													13	24					0	0	0.004990	0	0
COMMD10	51397	broad.mit.edu	37	5	115469813	115469813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115469813C>T	ENST00000274458.4	+	5	510	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	COMMD10_ENST00000515539.1_Nonsense_Mutation_p.Q136*	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	150	COMM.						protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TCACTCTGCTCAAGCAAAACT	0.398000													10	21					0	0	0.006214	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517984	138517984	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:138517984C>A	ENST00000371763.1	-	4	441	c.188G>T	c.(187-189)aGg>aTg	p.R63M		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	63					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CAGGACCCGCCTGTCGAAAGT	0.498000													41	7					4.01765e-15	4.83332e-15	0.002222	1	0
ACSM2A	123876	broad.mit.edu	37	16	20497973	20497973	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20497973G>A	ENST00000573854.1	+	14	1821	c.1707G>A	c.(1705-1707)aaG>aaA	p.K569K	ACSM2A_ENST00000536134.1_Silent_p.K341K|ACSM2A_ENST00000219054.6_Silent_p.K569K|ACSM2A_ENST00000575690.1_Silent_p.K569K|ACSM2A_ENST00000396104.2_Silent_p.K569K|ACSM2A_ENST00000417235.2_Silent_p.K490K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	569					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGGAGTGGAAGATGTCCGGAA	0.468000													51	64					0	0	0.003610	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	C	T	rs141274906	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:107288807C>T	ENST00000277216.3	-	1	683	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000													56	16					0	0	0.003610	0	0
CHD5	26038	broad.mit.edu	37	1	6188969	6188969	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:6188969G>A	ENST00000262450.3	-	23	3647	c.3548C>T	c.(3547-3549)tCc>tTc	p.S1183F	CHD5_ENST00000378021.1_Missense_Mutation_p.S40F	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1183	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTCATGGACCCCGACTT	0.652000													12	24					0	0	0.002450	0	0
ZNF569	148266	broad.mit.edu	37	19	37905286	37905286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37905286G>A	ENST00000316950.6	-	6	831	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	ZNF569_ENST00000592490.1_Silent_p.T17T|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.Q92*|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTCTGTCCTGGTTTTTCTGA	0.308000													20	28					0	0	0.008871	0	0
TECTA	7007	broad.mit.edu	37	11	121000383	121000383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:121000383C>T	ENST00000392793.1	+	10	2675	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	TECTA_ENST00000264037.2_Missense_Mutation_p.P802S			O75443	TECTA_HUMAN	tectorin alpha	802	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTTTCCATCCTTCGGGGAA	0.428000													34	15					0	0	0.002836	0	0
CHD2	1106	broad.mit.edu	37	15	93499875	93499875	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:93499875G>A	ENST00000394196.4	+	16	3064	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CHD2_ENST00000557381.1_Missense_Mutation_p.E666K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	666	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATTATGCCGGAGAAGTAAGC	0.428000													19	39					0	0	0.007413	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716012	170716012	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:170716012G>A	ENST00000314251.3	-	10	1423	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SLC2A2_ENST00000382808.4_Silent_p.F329F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	448					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.F448F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGCTACAATGAAATTGCAGG	0.458000													31	22					0	0	0.002445	0	0
DDC	1644	broad.mit.edu	37	7	50530967	50530967	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:50530967C>T	ENST00000444124.2	-	14	1605	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	DDC_ENST00000426377.1_Missense_Mutation_p.E391K|DDC_ENST00000431062.1_Missense_Mutation_p.E376K|DDC_ENST00000357936.5_Missense_Mutation_p.E469K	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	469					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCCGCCAGCTCTTTGATGTGT	0.597000													10	12					0	0	0.008291	0	0
TAF1L	138474	broad.mit.edu	37	9	32630672	32630672	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:32630672C>T	ENST00000242310.4	-	1	4995	c.4906G>A	c.(4906-4908)Gat>Aat	p.D1636N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1636					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTACAAATATCCTTCTCAAGT	0.448000													41	13					0	0	0.006999	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10428305C>T	ENST00000245503.5	-	34	5124	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1580R|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1580					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						CAGCAATTTTCCTATCAACCT	0.453000													27	47					0	0	0.006320	0	0
NAGPA	51172	broad.mit.edu	37	16	5083627	5083627	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:5083627A>G	ENST00000312251.3	-	2	208	c.189T>C	c.(187-189)agT>agC	p.S63S	NAGPA_ENST00000381955.3_Silent_p.S63S|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	63					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGGAGGCCAACTCTCGTGCT	0.761000													5	11					0	0	0.001168	0	0
ARID1A	8289	broad.mit.edu	37	1	27094349	27094349	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:27094349G>A	ENST00000324856.7	+	11	3428	c.3057G>A	c.(3055-3057)gaG>gaA	p.E1019E	ARID1A_ENST00000457599.2_Silent_p.E1019E|ARID1A_ENST00000374152.2_Silent_p.E636E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1019	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCCTGAGAGGAAGATGT	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								29	36					0	0	0.007291	0	0
TTLL4	9654	broad.mit.edu	37	2	219617876	219617876	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219617876C>T	ENST00000392102.1	+	18	3566	c.3226C>T	c.(3226-3228)Cac>Tac	p.H1076Y	TTLL4_ENST00000258398.4_Missense_Mutation_p.H1076Y|TTLL4_ENST00000457313.1_Missense_Mutation_p.H911Y|TTLL4_ENST00000442769.1_Missense_Mutation_p.H1012Y	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1076					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAAAGGGTTCCACATGGGAGT	0.522000													64	118					0	0	0.003610	0	0
CARS	833	broad.mit.edu	37	11	3050296	3050296	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:3050296A>G	ENST00000397114.3	-	9	1058	c.682T>C	c.(682-684)Tta>Cta	p.L228L	CARS_ENST00000278224.9_Silent_p.L238L|CARS_ENST00000397111.5_Silent_p.L238L|CARS_ENST00000401769.3_Silent_p.L251L|CARS_ENST00000380525.4_Silent_p.L321L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	238					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACCCGGGTTAAGACATCTGGA	0.478000			T	ALK	ALCL								24	14					0	0	0.002780	0	0
ZFR	51663	broad.mit.edu	37	5	32385739	32385739	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32385739T>A	ENST00000265069.8	-	15	2618	c.2516A>T	c.(2515-2517)aAg>aTg	p.K839M		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	839	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATGTCATACTTCTCAGGGCT	0.348000													12	34					0	0	0.000978	0	0
OR7A10	390892	broad.mit.edu	37	19	14952173	14952173	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:14952173C>T	ENST00000248058.1	-	1	516	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGGGATTTCCATGTGTGTA	0.433000													9	31					0	0	0.004482	0	0
VIPR1	7433	broad.mit.edu	37	3	42576497	42576497	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:42576497C>T	ENST00000433647.1	+	12	1542	c.918C>T	c.(916-918)atC>atT	p.I306I	VIPR1_ENST00000325123.4_Silent_p.I347I|VIPR1_ENST00000438259.2_Silent_p.I137I|VIPR1_ENST00000543411.1_Silent_p.I299I	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	347					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTGCTGATCCCCCTGTTTG	0.527000													7	41					0	0	0.001984	0	0
PHYKPL	85007	broad.mit.edu	37	5	177651689	177651689	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:177651689G>A	ENST00000308158.5	-	5	689	c.455C>T	c.(454-456)cCc>cTc	p.P152L	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		GAACTTGTAGGGACTGATGTC	0.612000													8	25					0	0	0.006214	0	0
C8orf34	116328	broad.mit.edu	37	8	69434033	69434033	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:69434033G>A	ENST00000337103.4	+	5	2024		c.e5-1		C8orf34_ENST00000539993.1_Splice_Site|C8orf34_ENST00000348340.2_Splice_Site|C8orf34_ENST00000518698.1_Splice_Site|C8orf34_ENST00000349492.3_Splice_Site			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34						signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTTCTCTTCAGGAAACAGTGA	0.388000													8	15					0	0	0.004482	0	0
RBBP6	5930	broad.mit.edu	37	16	24580152	24580152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24580152C>T	ENST00000319715.4	+	17	2573	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S680F	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGTTCACGCTCTTATTCTCGA	0.433000													21	28					0	0	0.001882	0	0
SYNM	23336	broad.mit.edu	37	15	99671130	99671130	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:99671130C>T	ENST00000336292.6	+	5	2682	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	SYNM_ENST00000560674.1_Silent_p.I569I|SYNM_ENST00000328642.7_Silent_p.I854I|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	855	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGATCCACATCGAGGAGGAAT	0.567000													21	13					0	0	0.008871	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310166	79310166	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:79310166G>A	ENST00000419573.3	-	12	1963	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I563I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	563	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGCCACTAGGATGACTGTAA	0.527000													29	34					0	0	0.002096	0	0
TMC2	117532	broad.mit.edu	37	20	2591082	2591082	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:2591082C>T	ENST00000358864.1	+	12	1446	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	477						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCGTGATGTCCCTGCTTGGAA	0.512000													97	56					0	0	0.003610	0	0
NSUN6	221078	broad.mit.edu	37	10	18840781	18840781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:18840781G>A	ENST00000377304.4	-	9	1460	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	348							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTAATGGCTGATATGATGCC	0.423000													33	19					0	0	0.004878	0	0
TMEM2	23670	broad.mit.edu	37	9	74337425	74337425	+	Silent	SNP	A	A	G	rs113221267		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:74337425A>G	ENST00000377044.4	-	12	2724	c.2185T>C	c.(2185-2187)Tta>Cta	p.L729L	TMEM2_ENST00000377066.5_Silent_p.L666L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	729						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCAATAAATAAGCCAGCCTGA	0.353000													17	19					0	0	0.007413	0	0
CES3	23491	broad.mit.edu	37	16	66997711	66997711	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:66997711G>A	ENST00000303334.4	+	4	504	c.433G>A	c.(433-435)Gta>Ata	p.V145I	CES3_ENST00000394037.1_Missense_Mutation_p.V145I	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	145						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCAGGTCATGGTATGGGTCCA	0.612000													18	26					0	0	0.008871	0	0
TSC22D2	9819	broad.mit.edu	37	3	150129006	150129006	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:150129006C>T	ENST00000361875.2	+	1	2885	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	TSC22D2_ENST00000361136.2_Silent_p.S623S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	623							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGCAGATTCCCTGGCAAACC	0.458000													21	19					0	0	0.001523	0	0
HDAC9	9734	broad.mit.edu	37	7	18705844	18705844	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18705844G>A	ENST00000406451.3	+	12	1617	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	HDAC9_ENST00000417496.2_Silent_p.S487S|HDAC9_ENST00000428307.2_Silent_p.S445S|HDAC9_ENST00000401921.1_Silent_p.S448S|HDAC9_ENST00000456174.2_Silent_p.S461S|HDAC9_ENST00000524023.1_Silent_p.S412S|HDAC9_ENST00000406072.1_Silent_p.S476S|HDAC9_ENST00000441542.2_Silent_p.S492S|HDAC9_ENST00000405010.3_Silent_p.S489S|HDAC9_ENST00000432645.2_Silent_p.S489S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	489					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCTGCTTTCGAAATCTATTG	0.448000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	60					0	0	0.002780	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757843	62757843	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:62757843C>T	ENST00000281156.4	-	3	554	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	92	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTTTCTTCCTGTAGCCTCT	0.373000													33	38					0	0	0.003755	0	0
PIGW	284098	broad.mit.edu	37	17	34893583	34893583	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:34893583C>T	ENST00000592983.1	+	2	1213	c.633C>T	c.(631-633)ttC>ttT	p.F211F	PIGW_ENST00000328396.2_Silent_p.F211F|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	211					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATTAGTCTTCCTAGGAATCG	0.373000													16	46					0	0	0.004990	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000901	45000901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:45000901G>A	ENST00000296127.3	-	2	301	c.28C>T	c.(28-30)Cga>Tga	p.R10*	ZDHHC3_ENST00000424952.2_Nonsense_Mutation_p.R10*|ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R10*	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	10						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TCAATGTTTCGGAAGTGGTGG	0.502000													8	73					0	0	0.004482	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098648	60098648	+	Silent	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:60098648G>T	ENST00000261187.4	+	2	230	c.66G>T	c.(64-66)gtG>gtT	p.V22V	SLC16A7_ENST00000547379.1_Silent_p.V22V|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552432.1_Silent_p.V22V|SLC16A7_ENST00000552024.1_Silent_p.V22V|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549465.1_Silent_p.V22V	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	22						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTTGGATTGTGGTTGGAGCAG	0.453000													6	13					0.00307968	0.0036585	0.003080	1	0
IFT74	80173	broad.mit.edu	37	9	26978177	26978177	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:26978177G>A	ENST00000443698.1	+	3	343	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	IFT74_ENST00000429045.2_Missense_Mutation_p.G58S|IFT74_ENST00000433700.1_Missense_Mutation_p.G58S|IFT74_ENST00000380062.5_Missense_Mutation_p.G58S	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	58						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CATAGGGACTGGTGGAGTTCT	0.423000													24	3					0	0	0.002299	0	0
PDE7B	27115	broad.mit.edu	37	6	136494966	136494966	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:136494966G>A	ENST00000308191.6	+	9	1046	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CATCACTGGCGATCTACAATT	0.413000													13	15					0	0	0.003163	0	0
EPHA7	2045	broad.mit.edu	37	6	93982080	93982080	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:93982080G>A	ENST00000369303.4	-	6	1569	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	462	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCCTGCCAGGAAAGCTCGAC	0.433000													38	64					0	0	0.006999	0	0
FAM13C	220965	broad.mit.edu	37	10	61029691	61029691	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61029691G>A	ENST00000373867.3	-	8	987	c.522C>T	c.(520-522)gcC>gcT	p.A174A	FAM13C_ENST00000435852.2_Silent_p.A257A|FAM13C_ENST00000277705.6_Silent_p.A278A|FAM13C_ENST00000442566.3_Silent_p.A278A|FAM13C_ENST00000468840.2_Silent_p.A174A|FAM13C_ENST00000422313.2_Silent_p.A257A|FAM13C_ENST00000373868.2_Silent_p.A257A|FAM13C_ENST00000419214.2_Silent_p.A257A	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	257										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGGAGATGGGGCTGACTCGG	0.443000													14	14					0	0	0.004007	0	0
COL5A2	1290	broad.mit.edu	37	2	189932833	189932833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:189932833G>A	ENST00000374866.3	-	21	1583	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	437					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GAGGTACCTGGAGAGCCCTAT	0.537000													32	35					0	0	0.002096	0	0
SOS2	6655	broad.mit.edu	37	14	50641269	50641269	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:50641269G>A	ENST00000216373.5	-	8	1245	c.969_splice	c.e8-1	p.S324_splice	SOS2_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	324	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATCAGCAATGGACTGCAAAGC	0.403000													3	8					0	0	0.004672	0	0
USP53	54532	broad.mit.edu	37	4	120189539	120189539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:120189539C>T	ENST00000450251.1	+	10	1796	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	USP53_ENST00000274030.6_Missense_Mutation_p.R418W			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	418					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATCATCTAATCGGAGCCACAG	0.358000													13	12					0	0	0.001855	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733275	106733275	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106733275C>T	ENST00000390610.2	-	0	279																											GTTTCACCATCTTCAGGATCA	0.522000													22	86					0	0	0.003330	0	0
PTGIR	5739	broad.mit.edu	37	19	47124798	47124798	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:47124798G>A	ENST00000291294.2	-	3	1033	c.900C>T	c.(898-900)ttC>ttT	p.F300F	PTGIR_ENST00000597185.1_Silent_p.F29F|PTGIR_ENST00000598865.1_Silent_p.F88F|PTGIR_ENST00000594275.1_Silent_p.F57F	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	300					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TGAGTCGCTGGAAGACAGCCT	0.627000													31	45					0	0	0.002096	0	0
MUC3A	4584	broad.mit.edu	37	7	100550183	100550183	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:100550183C>T	ENST00000379458.4	+	2	764	c.764C>T	c.(763-765)tCc>tTc	p.255_255insF	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						GCAGTGACTTCCACTTCCCCC	0.493000													45	134					0	0	0.003610	0	0
KRT71	112802	broad.mit.edu	37	12	52943849	52943849	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52943849C>G	ENST00000267119.5	-	2	689	c.620G>C	c.(619-621)aGg>aCg	p.R207T		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	207	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCGCACATTCCTCAGCTCCGA	0.602000													15	64					0	0	0.006122	0	0
SI	6476	broad.mit.edu	37	3	164776753	164776753	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:164776753C>T	ENST00000264382.3	-	12	1458	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	466	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTTTACCTCTCCAATAATT	0.378000										HNSCC(35;0.089)			9	8					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179566927	179566927	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179566927C>T	ENST00000589042.1	-	108	30703	c.30479G>A	c.(30478-30480)aGa>aAa	p.R10160K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R9843K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8916K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9843	Glu-rich.						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)			TGCCGTGCTTCTTGCTTCACC	0.483000													9	25					0	0	0.004482	0	0
KREMEN1	83999	broad.mit.edu	37	22	29534816	29534816	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:29534816T>C	ENST00000400338.2	+	7	1222	c.1169T>C	c.(1168-1170)gTt>gCt	p.V390A	KREMEN1_ENST00000327813.5_Missense_Mutation_p.V390A|KREMEN1_ENST00000407188.1_Missense_Mutation_p.V388A|KREMEN1_ENST00000400335.4_Intron			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	388					cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						AGCCACAGAGTTGAAGGTAGC	0.527000													16	33					0	0	0.003163	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174023	63174023	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:63174023G>A	ENST00000279178.3	+	7	1377	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	376					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGCATCTGGGGAACAATGTTT	0.443000													29	12					0	0	0.003755	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269812	173269812	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:173269812C>T	ENST00000506823.1	+	5	1182	c.525C>T	c.(523-525)atC>atT	p.I175I	GALNTL6_ENST00000508122.1_Silent_p.I158I|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	175	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TAGCAGAAATCATTCTAGTAG	0.373000													19	21					0	0	0.003330	0	0
FGD2	221472	broad.mit.edu	37	6	36979529	36979529	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:36979529C>T	ENST00000274963.8	+	4	597	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	142	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAAGGCCTTCCCAGAGGATG	0.577000													21	57					0	0	0.008871	0	0
TSIX	9383	broad.mit.edu	37	X	73041045	73041045	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73041045C>T	ENST00000604411.1	+	0	29006				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAGAAAATTTCAACCCCAGAT	0.338000													6	5					0	0	0.004482	0	0
RC3H1	149041	broad.mit.edu	37	1	173952757	173952757	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:173952757G>C	ENST00000367696.2	-	4	742	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	RC3H1_ENST00000367694.2_Missense_Mutation_p.R131G|RC3H1_ENST00000258349.4_Missense_Mutation_p.R131G			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	131					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGCATTGGGCGACTCAGAACA	0.458000													33	75					0	0	0.005524	0	0
KIF1B	23095	broad.mit.edu	37	1	10316325	10316325	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:10316325C>T	ENST00000377086.1	+	3	329	c.127C>T	c.(127-129)Cca>Tca	p.P43S	KIF1B_ENST00000377093.4_Missense_Mutation_p.P43S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P43S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P43S|KIF1B_ENST00000377083.1_Missense_Mutation_p.P43S			O60333	KIF1B_HUMAN	kinesin family member 1B	43	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAAAGAATCCAAAGGAAGC	0.388000													22	25					0	0	0.001523	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21216002G>A	ENST00000326842.2	+	2	390	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	88					sperm displacement	extracellular space		p.R88Q(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453000													7	7					0	0	0.003080	0	0
NF1	4763	broad.mit.edu	37	17	29554567	29554567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:29554567G>A	ENST00000358273.4	+	20	2735	c.2352G>A	c.(2350-2352)tgG>tgA	p.W784*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W784*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	784			W -> C (in NF1).|W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAAAATGGGAACAAGCAA	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	25					0	0	0.001984	0	0
TMEM175	84286	broad.mit.edu	37	4	941545	941545	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:941545C>T	ENST00000264771.4	+	2	203	c.18C>T	c.(16-18)acC>acT	p.T6T	TMEM175_ENST00000515740.1_Intron|TMEM175_ENST00000508204.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	6						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCCCCGGACCCCAGAGCAGG	0.687000													11	3					0	0	0.000978	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261429	21261429	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:21261429C>T	ENST00000311620.5	+	2	615	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	181										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGTACCTTCTCCAGATCATCC	0.468000													18	33					0	0	0.008871	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18809268	18809268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:18809268C>T	ENST00000304414.7	-	3	480	c.269G>A	c.(268-270)aGa>aAa	p.R90K	RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.R90K|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.R61K	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	90						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCCAAAAATTCTAGGCGCTAG	0.393000													22	43					0	0	0.001882	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677772	219677772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219677772G>A	ENST00000258415.4	+	5	1397	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	324					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAGTCCTCGGGAGGCCATGGG	0.637000													14	20					0	0	0.003163	0	0
HPX	3263	broad.mit.edu	37	11	6459651	6459651	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:6459651G>A	ENST00000265983.3	-	5	525	c.425C>T	c.(424-426)cCa>cTa	p.P142L	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	142					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGCATCCAGTGGGGATGGGAT	0.498000													30	18					0	0	0.002096	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884007	19884007	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19884007A>T	ENST00000300571.2	-	2	352	c.161T>A	c.(160-162)aTc>aAc	p.I54N	GPRC5B_ENST00000569847.1_Missense_Mutation_p.I54N|GPRC5B_ENST00000569479.1_Missense_Mutation_p.I54N|GPRC5B_ENST00000537135.1_Missense_Mutation_p.I80N|GPRC5B_ENST00000535671.1_Missense_Mutation_p.I54N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	54										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AATGCCCCAGATGGCGTCCAG	0.642000													11	20					0	0	0.001855	0	0
EMR2	30817	broad.mit.edu	37	19	14883198	14883198	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:14883198G>A	ENST00000315576.3	-	5	762	c.311C>T	c.(310-312)tCt>tTt	p.S104F	EMR2_ENST00000601345.1_Missense_Mutation_p.S104F|EMR2_ENST00000392967.2_Missense_Mutation_p.S104F|EMR2_ENST00000594076.1_Missense_Mutation_p.S104F|EMR2_ENST00000353876.1_Missense_Mutation_p.S104F|EMR2_ENST00000594294.1_Missense_Mutation_p.S104F|EMR2_ENST00000392965.3_Missense_Mutation_p.S104F|EMR2_ENST00000596991.2_Missense_Mutation_p.S104F|EMR2_ENST00000353005.1_Missense_Mutation_p.S104F|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Missense_Mutation_p.S104F|EMR2_ENST00000346057.1_Missense_Mutation_p.S104F	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	104	EGF-like 2; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TTTTGCCCCAGAAACAGGCTC	0.522000													22	49					0	0	0.003954	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840274	153840274	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:153840274T>C	ENST00000356448.4	+	2	777	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	ARHGEF26_ENST00000465817.1_Silent_p.L165L|ARHGEF26_ENST00000465093.1_Silent_p.L165L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	165	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCTTACTGGGTTGACTGCCAG	0.701000													17	10					0	0	0.007413	0	0
MYF6	4618	broad.mit.edu	37	12	81102711	81102711	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:81102711C>T	ENST00000228641.3	+	3	923	c.701C>T	c.(700-702)cCc>cTc	p.P234L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	234					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGCAAACTCCCCTGCGTGGAG	0.542000													14	11					0	0	0.001855	0	0
ODF3	113746	broad.mit.edu	37	11	198577	198577	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:198577C>T	ENST00000325113.4	+	5	843	c.526C>T	c.(526-528)Cta>Tta	p.L176L	ODF3_ENST00000525282.1_Silent_p.L176L|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	176					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCGACGACCTACACAAGGC	0.627000													15	22					0	0	0.006122	0	0
BBS10	79738	broad.mit.edu	37	12	76740717	76740717	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:76740717G>A	ENST00000393262.3	-	2	1131	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	350					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GGTACAAATGGAGAAAGACCA	0.383000									Bardet-Biedl syndrome				10	12					0	0	0.008291	0	0
NRXN3	9369	broad.mit.edu	37	14	79434617	79434617	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:79434617T>C	ENST00000554719.1	+	11	2442	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	NRXN3_ENST00000335750.5_Silent_p.L651L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGTGGACTTGAATGGACG	0.512000													19	21					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179604492	179604492	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179604492C>T	ENST00000589042.1	-	48	13692	c.13468G>A	c.(13468-13470)Gct>Act	p.A4490T	TTN_ENST00000342175.6_Missense_Mutation_p.A4319T|TTN_ENST00000591111.1_Missense_Mutation_p.A4173T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.A4127T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4252T|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4173	Ig-like 25.						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)			GGACCCTCAGCTGTTAGGATG	0.388000													40	157					0	0	0.002522	0	0
TRPC4	7223	broad.mit.edu	37	13	38211639	38211639	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:38211639C>T	ENST00000379705.3	-	11	3192	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	TRPC4_ENST00000379681.3_Missense_Mutation_p.E784K|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.E606K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E606K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E779K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E714K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	779	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTCTTTTCATCTGAGTCT	0.423000													18	19					0	0	0.006122	0	0
FKBP6	8468	broad.mit.edu	37	7	72754775	72754775	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:72754775G>A	ENST00000252037.4	+	6	793	c.724G>A	c.(724-726)Gga>Aga	p.G242R	FKBP6_ENST00000431982.2_Missense_Mutation_p.G237R|FKBP6_ENST00000413573.2_Missense_Mutation_p.G212R	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	242					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGTGCTATGGAGAGCAGGC	0.527000													21	26					0	0	0.003330	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480851	140480851	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140480851G>A	ENST00000231130.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		206	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGCCGGAACTCAGCT	0.567000													18	18					0	0	0.007413	0	0
FANCA	2175	broad.mit.edu	37	16	89805688	89805688	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:89805688G>A	ENST00000389301.3	-	41	4050	c.4020C>T	c.(4018-4020)tcC>tcT	p.S1340S	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Silent_p.S1340S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1340					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATGGAAGTAGGAGAGAAGAC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	19					0	0	0.002450	0	0
HERC2	8924	broad.mit.edu	37	15	28491205	28491205	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:28491205G>A	ENST00000261609.7	-	23	3507	c.3399C>T	c.(3397-3399)ctC>ctT	p.L1133L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1133					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTCTGGAAGGAGAACACCTA	0.368000													8	17					0	0	0.000978	0	0
CD163	9332	broad.mit.edu	37	12	7637846	7637846	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7637846G>A	ENST00000359156.4	-	11	2827	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	CD163_ENST00000396620.3_Silent_p.I908I|CD163_ENST00000541972.1_Silent_p.I863I|CD163_ENST00000432237.2_Silent_p.I875I|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	875	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGCAGGGTTGATTTTCCCTT	0.522000													14	44					0	0	0.001855	0	0
MECOM	2122	broad.mit.edu	37	3	169099133	169099133	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:169099133C>T	ENST00000494292.1	-	2	314	c.217G>A	c.(217-219)Gat>Aat	p.D73N	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	73							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						ATGGGGATATCATCAGGGATG	0.473000													47	46					0	0	0.003610	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190809	185190809	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:185190809C>T	ENST00000265026.3	+	11	2024	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	MAP3K13_ENST00000535426.1_Missense_Mutation_p.P420S|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P564S|MAP3K13_ENST00000446828.1_Missense_Mutation_p.P357S|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P420S	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	564					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAAGTGGCTCCCACTGCATC	0.507000													25	80					0	0	0.004656	0	0
KIF22	3835	broad.mit.edu	37	16	29815380	29815380	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29815380G>A	ENST00000561482.1	+	11	2104	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	KIF22_ENST00000160827.4_Silent_p.K557K|KIF22_ENST00000569382.2_Silent_p.K489K|KIF22_ENST00000400751.5_Silent_p.K489K|KIF22_ENST00000400750.2_Silent_p.K62K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	557					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AAGGCCGGAAGAGAAAGGTGA	0.542000													16	32					0	0	0.006122	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680362	18680362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:18680362C>T	ENST00000380548.4	+	11	1528	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.Q397*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.Q380*|ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.Q397*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	397	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGGCATCCAGAGCCGGGC	0.597000													22	8					0	0	0.001882	0	0
OR5B12	390191	broad.mit.edu	37	11	58206722	58206722	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58206722C>T	ENST00000302572.2	-	1	924	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K301N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCTACAGTCTTTTTAAAGG	0.363000													7	4					0	0	0.003080	0	0
VWF	7450	broad.mit.edu	37	12	6125396	6125396	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6125396C>T	ENST00000261405.5	-	31	5568	c.5314G>A	c.(5314-5316)Gat>Aat	p.D1772N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1772	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCAAGGCATCCCCTGAGGAT	0.532000													4	20					0	0	0.000248	0	0
ASB5	140458	broad.mit.edu	37	4	177142748	177142748	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177142748T>G	ENST00000296525.3	-	4	501	c.388A>C	c.(388-390)Aat>Cat	p.N130H	ASB5_ENST00000512254.1_Missense_Mutation_p.N77H|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	130					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTGATTGCATTTACCTAAACC	0.428000													9	22					0	0	0.004482	0	0
CTPS1	1503	broad.mit.edu	37	1	41450632	41450632	+	Silent	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:41450632G>C	ENST00000372621.4	+	3	814	c.306G>C	c.(304-306)cgG>cgC	p.R102R	CTPS1_ENST00000372616.1_Silent_p.R102R|CTPS1_ENST00000543104.1_Silent_p.R109R|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	102					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	ACAAGGAACGGAAAGGAGATT	0.413000													24	32					0	0	0.003954	0	0
GALNT6	11226	broad.mit.edu	37	12	51773256	51773256	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:51773256C>T	ENST00000543196.2	-	2	515	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E104K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	104					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGTGGCCGTTCCCAGAAGGGC	0.567000													11	53					0	0	0.001368	0	0
ZNF366	167465	broad.mit.edu	37	5	71756150	71756150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:71756150G>A	ENST00000318442.5	-	2	1664	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGTTGTACTGGATGGGGCCC	0.612000													8	22					0	0	0.006214	0	0
MAP3K19	80122	broad.mit.edu	37	2	135781078	135781078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:135781078G>A	ENST00000392915.1	-	1	141	c.22C>T	c.(22-24)Caa>Taa	p.Q8*	MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392917.3_Intron					mitogen-activated protein kinase kinase kinase 19																		CTTGCTACTTGAAAGTTCCAA	0.438000													12	21					0	0	0.001855	0	0
GP1BA	2811	broad.mit.edu	37	17	4837492	4837492	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:4837492G>A	ENST00000329125.5	+	2	1668	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	531										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCCTCCCCCTGGGCTTCTATG	0.572000													24	36					0	0	0.003330	0	0
TET1	80312	broad.mit.edu	37	10	70405456	70405456	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:70405456C>T	ENST00000373644.4	+	4	3179	c.2970C>T	c.(2968-2970)tcC>tcT	p.S990S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	990					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCAAGCATCCACAAAGTCAC	0.348000													9	19					0	0	0.000978	0	0
GPM6A	2823	broad.mit.edu	37	4	176622878	176622878	+	Silent	SNP	G	G	A	rs11545191		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:176622878G>A	ENST00000280187.7	-	3	123	c.78C>T	c.(76-78)ccC>ccT	p.P26P	GPM6A_ENST00000506894.1_Silent_p.P15P|GPM6A_ENST00000515090.1_Silent_p.P19P|GPM6A_ENST00000393658.2_Silent_p.P26P	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	26						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)		GAGAGGCATAGGGAATGCCCC	0.433000													18	39					0	0	0.007413	0	0
FAM227B	196951	broad.mit.edu	37	15	49833904	49833904	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:49833904C>T	ENST00000299338.6	-	10	1150	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	FAM227B_ENST00000561064.1_Missense_Mutation_p.G249R	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATGTTATTCCCTAGATCTTCT	0.299000													23	39					0	0	0.002299	0	0
CELSR3	1951	broad.mit.edu	37	3	48699999	48699999	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:48699999G>A	ENST00000544264.1	-	1	349	c.69C>T	c.(67-69)ctC>ctT	p.L23L	CELSR3_ENST00000164024.4_Silent_p.L23L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	23					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAAAGAGAGGAGAAGGAGCA	0.721000													5	10					0	0	0.000602	0	0
TENM4	26011	broad.mit.edu	37	11	78369576	78369576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:78369576C>T	ENST00000278550.7	-	34	8299	c.7837G>A	c.(7837-7839)Ggg>Agg	p.G2613R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTATCCACCCCATCAATGGTG	0.557000													15	8					0	0	0.004990	0	0
ASTN2	23245	broad.mit.edu	37	9	119188351	119188351	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:119188351G>A	ENST00000313400.4	-	23	3899	c.3799C>T	c.(3799-3801)Cta>Tta	p.L1267L	ASTN2_ENST00000341734.4_Silent_p.L319L|ASTN2_ENST00000288520.5_Silent_p.L368L|ASTN2_ENST00000361477.3_Silent_p.L319L|ASTN2_ENST00000361209.2_Silent_p.L1216L|ASTN2_ENST00000373996.3_Silent_p.L1263L			O75129	ASTN2_HUMAN	astrotactin 2	1267						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						AGTCGCCGTAGAATCAGGTGG	0.512000													11	4					0	0	0.001368	0	0
FAT4	79633	broad.mit.edu	37	4	126370371	126370371	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126370371G>A	ENST00000394329.3	+	9	8213	c.8200G>A	c.(8200-8202)Gaa>Aaa	p.E2734K	FAT4_ENST00000335110.5_Missense_Mutation_p.E1032K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2734	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGGACAGGGAAAAAGTATC	0.348000													16	20					0	0	0.006122	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736706	140736706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736706C>T	ENST00000571252.1	+	1	1939	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTCGTCCAGGACCATGG	0.657000													8	14					0	0	0.004482	0	0
TTC27	55622	broad.mit.edu	37	2	33002965	33002965	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:33002965C>T	ENST00000317907.4	+	14	1928	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	566							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGGTTTTCTCTCGGTTGT	0.403000													12	18					0	0	0.001855	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857917	9857917	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:9857917C>T	ENST00000396573.2	-	14	3793	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1162N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1162N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1005N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1162N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1162N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1162					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCGTGGAGTCCCCCTTGCGG	0.522000													39	57					0	0	0.005524	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507000													23	24					0	0	0.004656	0	0
PRB4	5545	broad.mit.edu	37	12	11461221	11461221	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:11461221T>C	ENST00000279575.1	-	3	729	c.696A>G	c.(694-696)caA>caG	p.Q232Q	PRB4_ENST00000535904.1_Silent_p.Q232Q|PRB4_ENST00000445719.2_Silent_p.Q163Q	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	295	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCTGCCCCCTTGAGGAGGTG	0.587000										HNSCC(22;0.051)			26	84					0	0	0.003954	0	0
OVGP1	5016	broad.mit.edu	37	1	111963999	111963999	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111963999G>A	ENST00000369732.3	-	8	857	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	268					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGAGGAGGCGAAAGGTACGT	0.502000													40	18					0	0	0.008740	0	0
CRLF2	64109	broad.mit.edu	37	X	1321372	1321372	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:1321372G>A	ENST00000381567.3	-	4	382	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CRLF2_ENST00000381566.1_Missense_Mutation_p.S128L|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	128	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity	p.S128L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				CTGATGCCACGAAAATCTCAC	0.547000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								38	40					0	0	0.002522	0	0
MYH13	8735	broad.mit.edu	37	17	10258071	10258071	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10258071C>T	ENST00000418404.3	-	10	1094	c.931G>A	c.(931-933)Gac>Aac	p.D311N	MYH13_ENST00000252172.4_Missense_Mutation_p.D311N|MYH13_ENST00000570743.1_Missense_Mutation_p.D311N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	311	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D311N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGGGGAAGTCGAAGGGGTTG	0.458000													21	39					0	0	0.002299	0	0
MYO10	4651	broad.mit.edu	37	5	16668463	16668463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:16668463G>A	ENST00000513610.1	-	40	6452	c.5998C>T	c.(5998-6000)Ctc>Ttc	p.L2000F	MYO10_ENST00000505695.1_Missense_Mutation_p.L1339F|MYO10_ENST00000274203.9_Missense_Mutation_p.L1357F|MYO10_ENST00000427430.2_Missense_Mutation_p.L1357F|MYO10_ENST00000515803.1_Missense_Mutation_p.L1339F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2000	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAAAAGAGAGGATGTGTTCA	0.537000													34	66					0	0	0.002445	0	0
FOXG1	2290	broad.mit.edu	37	14	29237936	29237936	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:29237936C>T	ENST00000382535.3	+	2	1820	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	FOXG1_ENST00000313071.4_Missense_Mutation_p.S484F			P55316	FOXG1_HUMAN	forkhead box G1	484					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGTCTTCTTCCAACCCTTTA	0.403000													9	15					0	0	0.000978	0	0
CARD10	29775	broad.mit.edu	37	22	37914095	37914095	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:37914095G>C	ENST00000403299.1	-	3	472	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G	CARD10_ENST00000251973.5_Missense_Mutation_p.R86G			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	86	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCACGGCAGCGCAAGATGTCC	0.642000													21	21					0	0	0.003954	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235652509	235652509	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:235652509G>A	ENST00000366600.3	-	3	553	c.325C>T	c.(325-327)Cct>Tct	p.P109S	B3GALNT2_ENST00000478199.1_Intron|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.P150S	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	109					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAGGAATAAGGATCTTCCCTG	0.413000													18	44					0	0	0.002780	0	0
LGSN	51557	broad.mit.edu	37	6	63989956	63989956	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:63989956C>T	ENST00000370657.4	-	4	1533	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	500					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTTATTTCTCTCTGCAGCTA	0.328000													16	27					0	0	0.004007	0	0
JAM2	58494	broad.mit.edu	37	21	27071113	27071113	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:27071113C>T	ENST00000480456.1	+	5	1069	c.519C>T	c.(517-519)atC>atT	p.I173I	JAM2_ENST00000312957.5_Silent_p.I173I|JAM2_ENST00000400532.1_Silent_p.I173I|JAM2_ENST00000425221.2_Silent_p.I137I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	173	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.I173I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGATGGCATCCGTTTGCTAG	0.438000													7	29					0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168101944	168101944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:168101944C>T	ENST00000409195.1	+	9	4131	c.4042C>T	c.(4042-4044)Cga>Tga	p.R1348*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R1126*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R1348*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1173					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAGATGTGCGAGGAACAAG	0.383000													11	19					0	0	0.000978	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782558	115782558	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115782558G>A	ENST00000343348.6	-	19	3631	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S	SEMA6A_ENST00000257414.8_Silent_p.S965S|SEMA6A_ENST00000503865.1_Silent_p.S327S|SEMA6A_ENST00000282394.6_Silent_p.S425S|SEMA6A_ENST00000510263.1_Silent_p.S948S|SEMA6A_ENST00000513137.1_Silent_p.S375S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	948					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGGTTTCTGGAGAGGTGAG	0.592000													21	23					0	0	0.001882	0	0
IRX1	79192	broad.mit.edu	37	5	3599741	3599741	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:3599741A>T	ENST00000302006.3	+	2	731	c.679A>T	c.(679-681)Agc>Tgc	p.S227C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGACCTGGAAAGCATCGACAT	0.652000													17	17					0	0	0.004990	0	0
USP5	8078	broad.mit.edu	37	12	6965958	6965958	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6965958C>T	ENST00000229268.8	+	6	724	c.672C>T	c.(670-672)ttC>ttT	p.F224F	USP5_ENST00000389231.5_Silent_p.F224F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	224	Substrate binding.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GACGCTACTTCGATGGCAGTG	0.577000													14	39					0	0	0.004007	0	0
OR10C1	442194	broad.mit.edu	37	6	29408399	29408399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29408399G>A	ENST00000444197.2	+	1	1317	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGGCAACAGCCCTCCTCAT	0.582000													37	121					0	0	0.006999	0	0
KCNT2	343450	broad.mit.edu	37	1	196227512	196227512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196227512G>A	ENST00000367433.5	-	25	3052	c.2951C>T	c.(2950-2952)cCc>cTc	p.P984L	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.P942L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.P1008L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1008						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCGCAGCAAGGGATGGTCCGA	0.512000													21	47					0	0	0.001882	0	0
OR2B3	442184	broad.mit.edu	37	6	29054298	29054298	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29054298G>A	ENST00000377173.2	-	1	792	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AATCATGTGGGACCCACATGT	0.453000													11	24					0	0	0.008291	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840383	130840383	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:130840383A>G	ENST00000509018.1	-	11	1395	c.1190T>C	c.(1189-1191)gTt>gCt	p.V397A	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V397A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V397A|FNIP1_ENST00000514667.1_Missense_Mutation_p.V447A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V397A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V397A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V397A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V112A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	397					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGTACCATAACAATTTCTCC	0.398000													21	28					0	0	0.002299	0	0
LILRB5	10990	broad.mit.edu	37	19	54754934	54754934	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54754934A>G	ENST00000450632.1	-	13	1778	c.1701T>C	c.(1699-1701)tcT>tcC	p.S567S	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	368					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATTCCCCAGACAGTGGGG	0.592000													3	15					0	0	0.000602	0	0
STPG2	285555	broad.mit.edu	37	4	98633937	98633937	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:98633937C>T	ENST00000295268.3	-	10	1322	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GGCAAGATTTCCTTAAAACAG	0.338000													38	19					0	0	0.008740	0	0
PEG3	5178	broad.mit.edu	37	19	57327204	57327204	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:57327204T>A	ENST00000326441.9	-	10	2969	c.2606A>T	c.(2605-2607)aAt>aTt	p.N869I	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N745I|PEG3_ENST00000423103.2_Missense_Mutation_p.N869I|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N743I|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	869					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGCTTATCATTAAGGTCTGA	0.438000													27	32					0	0	0.008361	0	0
PLG	5340	broad.mit.edu	37	6	161135945	161135945	+	Splice_Site	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:161135945A>T	ENST00000308192.9	+	6	730	c.668_splice	c.e6+1	p.K223_splice		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	223	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CATTCCTTCCAAGTAAGTCTC	0.433000													8	7					0	0	0.003080	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920074	5920074	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:5920074A>G	ENST00000399933.3	-	8	5921	c.5922T>C	c.(5920-5922)agT>agC	p.S1974S	KIAA2026_ENST00000381461.2_Silent_p.S1944S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1974										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGGGTATAGAACTTGCATTCC	0.388000													39	11					0	0	0.006230	0	0
OR1D2	4991	broad.mit.edu	37	17	2995575	2995575	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:2995575G>A	ENST00000331459.1	-	1	715	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	239					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						GGCACAGGTGGAGAAGGCTTT	0.458000													36	47					0	0	0.003755	0	0
SFI1	9814	broad.mit.edu	37	22	31979912	31979912	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:31979912G>A	ENST00000432498.1	+	12	1600	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	SFI1_ENST00000443011.1_Missense_Mutation_p.E281K|SFI1_ENST00000443326.1_Missense_Mutation_p.E352K|SFI1_ENST00000400288.2_Missense_Mutation_p.E434K|SFI1_ENST00000400289.1_Missense_Mutation_p.E352K|SFI1_ENST00000414585.1_Missense_Mutation_p.E281K|SFI1_ENST00000540643.1_Missense_Mutation_p.E379K	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	434					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCAGAAAAAGGAAAGAGAGCT	0.507000													53	112					0	0	0.003610	0	0
PLBD1	79887	broad.mit.edu	37	12	14693725	14693725	+	Silent	SNP	C	C	T	rs146454926		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14693725C>T	ENST00000240617.5	-	4	1183	c.531G>A	c.(529-531)aaG>aaA	p.K177K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	177					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TAGCCCTCTTCTTTGCTCCTA	0.353000													30	57					0	0	0.002445	0	0
FAT3	120114	broad.mit.edu	37	11	92534757	92534757	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:92534757G>A	ENST00000298047.6	+	9	8595	c.8578G>A	c.(8578-8580)Gaa>Aaa	p.E2860K	FAT3_ENST00000409404.2_Missense_Mutation_p.E2860K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2710K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2860	Cadherin 26.				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)				TTCCCAGCCCGAAAAGGTAAT	0.498000										TCGA Ovarian(4;0.039)			118	62					0	0	0.003610	0	0
SEC23B	10483	broad.mit.edu	37	20	18496297	18496297	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:18496297C>T	ENST00000336714.3	+	4	715	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SEC23B_ENST00000377475.3_Missense_Mutation_p.P95S|SEC23B_ENST00000262544.2_Missense_Mutation_p.P95S|SEC23B_ENST00000377465.1_Missense_Mutation_p.P95S|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	95					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTTTCAGTTTCCTCCAGCTTA	0.373000													4	41					0	0	0.000602	0	0
COL22A1	169044	broad.mit.edu	37	8	139838959	139838959	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139838959G>A	ENST00000303045.6	-	6	1357	c.911C>T	c.(910-912)aCc>aTc	p.T304I	COL22A1_ENST00000435777.1_Missense_Mutation_p.T304I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	304	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCCGAGAGGTTTTCCTGAA	0.512000										HNSCC(7;0.00092)			21	21					0	0	0.002780	0	0
TPTE	7179	broad.mit.edu	37	21	10941939	10941939	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10941939C>T	ENST00000298232.7	-	13	1077	c.710G>A	c.(709-711)gGa>gAa	p.G237E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.G217E|TPTE_ENST00000361285.4_Missense_Mutation_p.G255E	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	255	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G255E(1)|p.G237E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGACTGCCTTCCAGAAGATGG	0.289000													18	81					0	0	0.001882	0	0
KALRN	8997	broad.mit.edu	37	3	124397085	124397085	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:124397085G>A	ENST00000360013.3	+	50	7369	c.7242G>A	c.(7240-7242)gtG>gtA	p.V2414V	KALRN_ENST00000291478.4_Silent_p.V717V|KALRN_ENST00000428018.2_Silent_p.V685V|KALRN_ENST00000462213.1_Silent_p.V31V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2413					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGCGGAAGTGGAGAACACGG	0.483000													16	52					0	0	0.004007	0	0
PHIP	55023	broad.mit.edu	37	6	79650681	79650681	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:79650681G>A	ENST00000275034.4	-	40	5362	c.5195C>T	c.(5194-5196)cCt>cTt	p.P1732L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1732					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GACACTTGCAGGGACTAGGAG	0.388000													27	43					0	0	0.008361	0	0
RBM46	166863	broad.mit.edu	37	4	155720126	155720126	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:155720126G>A	ENST00000510397.1	+	4	991	c.812G>A	c.(811-813)aGa>aAa	p.R271K	RBM46_ENST00000514866.1_Missense_Mutation_p.R271K|RBM46_ENST00000281722.3_Missense_Mutation_p.R271K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	271	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAAACTTAGAGATTATGCT	0.353000													13	8					0	0	0.004007	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829206	31829206	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:31829206C>T	ENST00000354297.4	+	6	668	c.597C>T	c.(595-597)ccC>ccT	p.P199P	BPIFA1_ENST00000375422.2_Silent_p.P199P|BPIFA1_ENST00000375413.4_Silent_p.P199P	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	199					innate immune response	extracellular region	lipid binding										GCCCCCTCCCCATTCAAGGTC	0.552000													128	86					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177242626	177242626	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:177242626C>T	ENST00000361539.4	+	5	984	c.672C>T	c.(670-672)gtC>gtT	p.V224V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		224						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTCTCTAGGTCACCGAGACCA	0.502000													6	38					0	0	0.001168	0	0
FBXO38	81545	broad.mit.edu	37	5	147820005	147820005	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:147820005A>T	ENST00000340253.5	+	20	3357	c.3189A>T	c.(3187-3189)gaA>gaT	p.E1063D	FBXO38_ENST00000513826.1_Missense_Mutation_p.E818D|FBXO38_ENST00000394370.3_Missense_Mutation_p.E988D|FBXO38_ENST00000296701.6_Missense_Mutation_p.E818D			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1063						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAATATGAATTCTTCCCTG	0.368000													10	25					0	0	0.000978	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354546	22354546	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:22354546G>A	ENST00000396037.4	-	5	1492	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ST8SIA1_ENST00000539510.1_Silent_p.I194I	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	337					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I337I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGTGCACCGATTTTATGAA	0.483000													42	51					0	0	0.002222	0	0
RGS6	9628	broad.mit.edu	37	14	72939580	72939580	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:72939580G>A	ENST00000553530.1	+	9	744	c.536_splice	c.e9-1	p.K179_splice	RGS6_ENST00000556437.1_Splice_Site_p.K179_splice|RGS6_ENST00000407322.4_Splice_Site_p.K179_splice|RGS6_ENST00000554782.1_Splice_Site_p.K40_splice|RGS6_ENST00000553525.1_Splice_Site_p.K179_splice|RGS6_ENST00000434263.2_Splice_Site_p.K110_splice|RGS6_ENST00000555571.1_Splice_Site_p.K179_splice|RGS6_ENST00000406236.4_Splice_Site_p.K179_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Splice_Site_p.K179_splice|RGS6_ENST00000343854.6_Splice_Site_p.K179_splice|RGS6_ENST00000355512.6_Splice_Site_p.K179_splice|RGS6_ENST00000402788.2_Splice_Site_p.K179_splice	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	179					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACTCTTTCAGGATTGACCGGA	0.448000													22	89					0	0	0.003330	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721182	50721182	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50721182T>G	ENST00000449103.1	-	18	3085	c.2945A>C	c.(2944-2946)aAc>aCc	p.N982T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.N982T			O15031	PLXB2_HUMAN	plexin B2	982					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)		CAGTACGGGGTTTTCGCGGTA	0.677000													5	16					0	0	0.001984	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159566	92159566	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:92159566C>T	ENST00000256343.3	-	9	891	c.735G>A	c.(733-735)gtG>gtA	p.V245V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	245					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAACCATATCCACCAATGAAA	0.343000													26	29					0	0	0.006320	0	0
CSMD1	64478	broad.mit.edu	37	8	3081377	3081377	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:3081377C>T	ENST00000602557.1	-	29	4916	c.4361G>A	c.(4360-4362)gGg>gAg	p.G1454E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1453E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1453E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1453E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1454E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1454E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1454E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1454	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTCAGATTCCCTCCACAAGC	0.502000													11	8					0	0	0.008291	0	0
ITPR3	3710	broad.mit.edu	37	6	33656078	33656078	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33656078C>T	ENST00000374316.5	+	49	7498	c.6438C>T	c.(6436-6438)ttC>ttT	p.F2146F	ITPR3_ENST00000605930.1_Silent_p.F2146F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2146					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTGCCAGTTCCTGACGGAGG	0.612000													20	56					0	0	0.002299	0	0
NIN	51199	broad.mit.edu	37	14	51219250	51219250	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:51219250G>C	ENST00000245441.5	-	21	5126	c.4936C>G	c.(4936-4938)Cgt>Ggt	p.R1646G	NIN_ENST00000389868.3_Missense_Mutation_p.R933G|NIN_ENST00000382041.3_Missense_Mutation_p.R1646G|NIN_ENST00000324330.9_Missense_Mutation_p.R1646G|NIN_ENST00000382043.4_Missense_Mutation_p.R933G|NIN_ENST00000530997.2_Missense_Mutation_p.R1646G|NIN_ENST00000453196.1_Missense_Mutation_p.R1646G	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1646					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACTTTACAACGTTCCAGTTCT	0.393000			T	PDGFRB	MPD								84	88					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254329	1254329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1254329G>A	ENST00000348261.5	+	10	2570	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.W774*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.W774*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	774					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCAGGCTGGATGGGCCGCC	0.692000													5	7					0	0	0.001168	0	0
TM4SF18	116441	broad.mit.edu	37	3	149051063	149051063	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:149051063G>A	ENST00000296059.2	-	2	372	c.107C>T	c.(106-108)tCc>tTc	p.S36F	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.S36F	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	36						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATGCATAGGAAGTTTGCCC	0.423000													28	16					0	0	0.008361	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418940	48418940	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48418940C>T	ENST00000376771.4	+	6	1985	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.D294D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	548						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTCCCCAGACCCACTGCTCT	0.582000													14	44					0	0	0.002450	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95454691	95454691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95454691G>A	ENST00000359204.4	-	5	420	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	FRA10AC1_ENST00000394100.2_Nonsense_Mutation_p.Q75*|FRA10AC1_ENST00000371430.2_Nonsense_Mutation_p.Q75*|FRA10AC1_ENST00000536233.1_Nonsense_Mutation_p.Q75*	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	75						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						GTATGTCTTTGATACTGAAAT	0.318000													29	29					0	0	0.005443	0	0
HERPUD2	64224	broad.mit.edu	37	7	35712846	35712846	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:35712846G>A	ENST00000396081.1	-	2	994	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	HERPUD2_ENST00000311350.3_Missense_Mutation_p.P64S	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	64	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGATGATCGGGAAGCAGTCTG	0.378000													21	20					0	0	0.002780	0	0
ANGPT1	284	broad.mit.edu	37	8	108334194	108334194	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:108334194G>A	ENST00000520734.1	-	3	423	c.138C>T	c.(136-138)gtC>gtT	p.V46V	ANGPT1_ENST00000520052.1_Silent_p.V46V|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	246					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTTCTGAAGGACACTGTTGT	0.428000													28	30					0	0	0.002836	0	0
LAMB4	22798	broad.mit.edu	37	7	107688550	107688550	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107688550C>T	ENST00000388781.3	-	28	4212	c.4129G>A	c.(4129-4131)Gga>Aga	p.G1377R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1377R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1377R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1377	Domain alpha.				cell adhesion	basement membrane		p.G1377*(1)|p.G1377R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTGGATCTCCGCACACCTTG	0.493000													29	65					0	0	0.001786	0	0
ZNF484	83744	broad.mit.edu	37	9	95610021	95610021	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:95610021G>A	ENST00000395505.2	-	3	1032	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.H352Y|ZNF484_ENST00000375495.3_Missense_Mutation_p.H350Y|ZNF484_ENST00000332591.6_Missense_Mutation_p.H314Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGAATGAATTCTCTGG	0.368000													16	39					0	0	0.003163	0	0
ZNF506	440515	broad.mit.edu	37	19	19906328	19906328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19906328C>T	ENST00000443905.2	-	4	515	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.C91Y|ZNF506_ENST00000540806.2_Missense_Mutation_p.C123Y|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						GTGCACTGGACACTCATCTAC	0.308000													16	34					0	0	0.008871	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99221766	99221766	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99221766G>A	ENST00000394152.2	+	7	1095	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000334715.3_Silent_p.G256G|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		ACTGCTTTGGGGAGTATGTGG	0.572000													35	76					0	0	0.006999	0	0
OR2M5	127059	broad.mit.edu	37	1	248308992	248308992	+	Silent	SNP	C	C	T	rs141891339		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248308992C>T	ENST00000366476.1	+	1	543	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F181F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTGTGACTTCCCTTCCCTAC	0.423000													78	195					0	0	0.003610	0	0
LRRC30	339291	broad.mit.edu	37	18	7231688	7231688	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:7231688C>T	ENST00000383467.2	+	1	566	c.552C>T	c.(550-552)tcC>tcT	p.S184S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	184										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGTGTTCTCCCTGAAGGAAC	0.557000													56	19					0	0	0.003610	0	0
C1orf227	149643	broad.mit.edu	37	1	213009459	213009459	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:213009459C>T	ENST00000332912.3	-	2	140	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	11										kidney(1)|large_intestine(1)|lung(1)	3						CATGTTTTTTCATTATTTCAA	0.358000													21	81					0	0	0.003330	0	0
ZNF549	256051	broad.mit.edu	37	19	58046596	58046596	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58046596C>T	ENST00000602149.1	+	3	305	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	ZNF549_ENST00000240719.3_Missense_Mutation_p.H40Y|ZNF549_ENST00000376233.3_Missense_Mutation_p.H53Y|ZNF549_ENST00000594943.1_Intron			Q6P9A3	ZN549_HUMAN	zinc finger protein 549	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCTGTATCATGATGTGAT	0.498000													38	63					0	0	0.004878	0	0
C2orf54	79919	broad.mit.edu	37	2	241831030	241831030	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:241831030C>T	ENST00000307486.8	-	2	316	c.218G>A	c.(217-219)gGa>gAa	p.G73E	C2orf54_ENST00000388934.4_Missense_Mutation_p.G222E|C2orf54_ENST00000402775.2_Missense_Mutation_p.G54E			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	222										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTCAGGGAATCCGGGCATCTG	0.657000													32	39					0	0	0.001786	0	0
LUM	4060	broad.mit.edu	37	12	91502014	91502014	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:91502014C>T	ENST00000266718.4	-	2	1197	c.743G>A	c.(742-744)gGa>gAa	p.G248E	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	248					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GAAAGAATTTCCAGGTATTCC	0.383000													13	36					0	0	0.001855	0	0
EYA2	2139	broad.mit.edu	37	20	45725732	45725732	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:45725732C>T	ENST00000327619.5	+	9	1187	c.813C>T	c.(811-813)ttC>ttT	p.F271F	EYA2_ENST00000357410.3_Silent_p.F271F|EYA2_ENST00000317304.6_Silent_p.F271F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	271					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCGTGTGTTCGTGTGGGACT	0.423000													46	38					0	0	0.003610	0	0
DECR1	1666	broad.mit.edu	37	8	91029432	91029432	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:91029432G>A	ENST00000522161.1	+	4	806	c.123G>A	c.(121-123)gcG>gcA	p.A41A	DECR1_ENST00000220764.2_Silent_p.A50A|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	50					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	p.A50A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCAAAAAGCGATGCTACCAC	0.378000													6	22					0	0	0.001168	0	0
ADAM29	11086	broad.mit.edu	37	4	175898956	175898956	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:175898956A>G	ENST00000359240.3	+	5	2950	c.2280A>G	c.(2278-2280)caA>caG	p.Q760Q	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.Q760Q|ADAM29_ENST00000514159.1_Silent_p.Q760Q|ADAM29_ENST00000445694.1_Silent_p.Q760Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	760	9 X 9 AA approximate repeats.				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)		CCCAGAGTCAACCTCCTGTGA	0.567000													34	40					0	0	0.004878	0	0
MXRA5	25878	broad.mit.edu	37	X	3241038	3241038	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:3241038C>T	ENST00000217939.6	-	5	2842	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	896						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGTTATCTCCTCAGTCTTCT	0.468000													29	31					0	0	0.008361	0	0
C12orf36	283422	broad.mit.edu	37	12	13529176	13529176	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13529176C>T	ENST00000318426.2	-	2	381	c.164G>A	c.(163-165)gGg>gAg	p.G55E	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.G55E|C12orf36_ENST00000532841.1_Missense_Mutation_p.G55E|C12orf36_ENST00000539026.1_Missense_Mutation_p.G55E					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cctctgagtccctccAAGCAG	0.507000													28	33					0	0	0.001786	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594389	140594389	+	Missense_Mutation	SNP	G	G	A	rs143547458		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140594389G>A	ENST00000341948.4	+	1	881	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		232	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATCGAAGTCCTGGA	0.532000													23	129					0	0	0.002445	0	0
CLPS	1208	broad.mit.edu	37	6	35764997	35764997	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:35764997C>T	ENST00000259938.2	-	1	91	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	23					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						TGATAATGATCCCCCGGGGGC	0.592000													15	111					0	0	0.006122	0	0
NFAT5	10725	broad.mit.edu	37	16	69727479	69727479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:69727479C>T	ENST00000349945.1	+	14	5021	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1250*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q1233*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1157*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1157*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1251*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1233					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACCATGTTCCAGTCACAGCA	0.542000													33	44					0	0	0.004289	0	0
MYH4	4622	broad.mit.edu	37	17	10362607	10362607	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10362607G>A	ENST00000255381.2	-	15	1658	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	516	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						GGTCCATCCCGAAGTCAATGA	0.473000													26	56					0	0	0.008361	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508427	37508427	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:37508427C>T	ENST00000374660.1	+	40	4075	c.3976C>T	c.(3976-3978)Cta>Tta	p.L1326L	ANKRD30A_ENST00000361713.1_Silent_p.L1207L|ANKRD30A_ENST00000602533.1_Silent_p.L1207L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCCAAAAGCCTAAAAATTAA	0.353000													8	9					0	0	0.004482	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862105	128862105	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:128862105G>A	ENST00000274487.4	+	4	1169	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	342	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCCTATCATGGAGCAGATGC	0.393000													12	32					0	0	0.001368	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043153	153043153	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:153043153G>A	ENST00000341611.2	-	2	225	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2B_ENST00000368752.4_Missense_Mutation_p.P55S|SPRR2B_ENST00000368755.2_Missense_Mutation_p.P55S	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	55					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000													46	108					0	0	0.003610	0	0
KCNA10	3744	broad.mit.edu	37	1	111061409	111061409	+	Translation_Start_Site	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111061409T>A	ENST00000369771.2	-	1	388	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	1						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CACACATCCATTCTAGGGGAG	0.473000													3	3					0	0	0.004672	0	0
CADM3	57863	broad.mit.edu	37	1	159162383	159162383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159162383G>A	ENST00000368125.4	+	3	402	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CADM3_ENST00000368124.4_Missense_Mutation_p.R116Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				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)					CGAGATAATCGAATTCAGCTG	0.512000													16	62					0	0	0.006122	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761755	13761755	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13761755G>A	ENST00000279593.3	-	9	2001	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	598					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAAAGAGGGTCCACCAGGC	0.498000													12	18					0	0	0.000978	0	0
LPO	4025	broad.mit.edu	37	17	56345158	56345158	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56345158G>A	ENST00000262290.4	+	13	2258	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	LPO_ENST00000543544.1_Missense_Mutation_p.E589K|LPO_ENST00000582328.1_Missense_Mutation_p.E565K|LPO_ENST00000421678.2_Missense_Mutation_p.E565K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	648					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						GTTCTGGTGGGAAAACCCTGG	0.567000													18	21					0	0	0.001523	0	0
CDH26	60437	broad.mit.edu	37	20	58560113	58560113	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:58560113T>C	ENST00000348616.4	+	7	1066	c.766T>C	c.(766-768)Tca>Cca	p.S256P	CDH26_ENST00000244047.5_Missense_Mutation_p.S256P	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	256	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACCGTCACTGTCATCCACGAC	0.542000													29	17					0	0	0.008361	0	0
TTBK1	84630	broad.mit.edu	37	6	43223526	43223526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:43223526C>T	ENST00000259750.4	+	9	876	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	TTBK1_ENST00000304139.5_Missense_Mutation_p.P214S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	265	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAAGCACATGCCGTCAGAGTT	0.602000													27	57					0	0	0.005443	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389469	150389469	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:150389469G>A	ENST00000223293.5	+	3	189	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	32						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAAAACAGGAACTGGCAAA	0.498000													5	10					0	0	0.000602	0	0
PRKCG	5582	broad.mit.edu	37	19	54403501	54403501	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54403501C>T	ENST00000263431.3	+	12	1578	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PRKCG_ENST00000542049.1_Silent_p.F319F|PRKCG_ENST00000540413.1_Silent_p.F432F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	432	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCCTGTATTTCGTGATGGAGT	0.537000													17	26					0	0	0.007413	0	0
CIT	11113	broad.mit.edu	37	12	120151086	120151086	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:120151086C>T	ENST00000392521.2	-	35	4556	c.4501G>A	c.(4501-4503)Gga>Aga	p.G1501R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.G1459R	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1459	PH.				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)		CCTTGCTGTCCTCGTTTGTTA	0.453000													63	62					0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28540229	28540229	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:28540229C>T	ENST00000452236.2	-	4	4054	c.3437G>A	c.(3436-3438)aGa>aAa	p.R1146K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1146					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						tgtagaaattctgtttttcca	0.308000													19	48					0	0	0.007413	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	37					0	0	0.000248	0	0
TRPC3	7222	broad.mit.edu	37	4	122835950	122835950	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:122835950G>A	ENST00000264811.5	-	3	1525	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Silent_p.I442I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	357					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCAAGGTGCGATCCAGTAGC	0.483000													7	6					0	0	0.003080	0	0
HDAC9	9734	broad.mit.edu	37	7	18705940	18705940	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18705940C>T	ENST00000406451.3	+	12	1713	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	HDAC9_ENST00000417496.2_Silent_p.P519P|HDAC9_ENST00000428307.2_Silent_p.P477P|HDAC9_ENST00000401921.1_Silent_p.P480P|HDAC9_ENST00000456174.2_Silent_p.P493P|HDAC9_ENST00000524023.1_Silent_p.P444P|HDAC9_ENST00000406072.1_Silent_p.P508P|HDAC9_ENST00000441542.2_Silent_p.P524P|HDAC9_ENST00000405010.3_Silent_p.P521P|HDAC9_ENST00000432645.2_Silent_p.P521P	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	521					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGAGCGCCCTCTAGTGGCA	0.542000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	51					0	0	0.002780	0	0
KIF13B	23303	broad.mit.edu	37	8	29033683	29033683	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:29033683G>A	ENST00000524189.1	-	10	885	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	KIF13B_ENST00000521515.1_Missense_Mutation_p.L283F	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	283					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGACCGAGGGTTGTGAGG	0.393000													4	9					0	0	0.000248	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700066	94700066	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94700066G>A	ENST00000304338.3	+	6	747	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	198						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAATTTTAGGAAAATTGACC	0.313000													13	32					0	0	0.007413	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712561	140712561	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140712561C>T	ENST00000517417.1	+	1	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGA1_ENST00000378105.3_Silent_p.F770F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATTTTCCCCCAGCCCA	0.547000													31	58					0	0	0.003271	0	0
TMEM74	157753	broad.mit.edu	37	8	109797304	109797304	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:109797304C>T	ENST00000297459.3	-	2	202	c.24G>A	c.(22-24)aaG>aaA	p.K8K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	8					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)			GGTTGCTCTTCTTAGCAAGGT	0.537000													9	15					0	0	0.004482	0	0
KLHL11	55175	broad.mit.edu	37	17	40011029	40011029	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:40011029T>A	ENST00000319121.3	-	2	1150	c.1090A>T	c.(1090-1092)Att>Ttt	p.I364F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	364						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ACACCTCCAATAACCATGATC	0.438000													26	41					0	0	0.006320	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3653369	3653369	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3653369G>A	ENST00000335312.3	-	7	928	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PIP5K1C_ENST00000537021.1_Silent_p.F280F|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.F280F|PIP5K1C_ENST00000539785.1_Silent_p.F280F	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	280	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTCCTGCATGAAGTCCAGGT	0.642000													23	18					0	0	0.002299	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446466	169446466	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446466T>C	ENST00000236137.5	-	2	970	c.734A>G	c.(733-735)aAc>aGc	p.N245S	SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	245					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGGAAGGTGGTTAGAAGCTGG	0.478000													5	100					0	0	0.003080	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496064	6496064	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6496064G>A	ENST00000264071.2	-	4	817	c.446C>T	c.(445-447)aCg>aTg	p.T149M	TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.T149M			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	149					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T149M(1)									GATGAGCAGCGTGCCCATTCC	0.642000													23	28					0	0	0.002780	0	0
SSX3	10214	broad.mit.edu	37	X	48214615	48214615	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48214615C>T	ENST00000298396.2	-	2	122		c.e2+1		SSX3_ENST00000376893.3_Splice_Site	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						GGTCACCTCACCTTTTGTATC	0.542000													24	47					0	0	0.004656	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618162	77618162	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77618162C>T	ENST00000521891.2	+	2	2287	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.I613I|ZFHX4_ENST00000455469.2_Silent_p.I613I|ZFHX4_ENST00000518282.1_Silent_p.I613I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	613						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557000										HNSCC(33;0.089)			8	39					0	0	0.003080	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223960	142223960	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142223960C>T	ENST00000390367.3	-	0	223																											CACTCTCATCCTGAAATTGAA	0.507000													16	20					0	0	0.006122	0	0
FAM65B	9750	broad.mit.edu	37	6	24848352	24848352	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:24848352G>A	ENST00000259698.4	-	12	1153	c.978C>T	c.(976-978)tcC>tcT	p.S326S	FAM65B_ENST00000510784.2_Silent_p.S360S|FAM65B_ENST00000538035.1_Silent_p.S355S|FAM65B_ENST00000540914.1_Silent_p.S326S|FAM65B_ENST00000378023.4_Silent_p.S326S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	326					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CAGCGCCTGAGGATGCGGTCA	0.527000													10	15					0	0	0.008291	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509589	125509589	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:125509589C>T	ENST00000341446.8	+	3	460	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	123						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GCAGCCCGGCCCGCGCGCTCC	0.652000													7	12					0	0	0.003080	0	0
CDH4	1002	broad.mit.edu	37	20	60503400	60503400	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:60503400C>T	ENST00000360469.5	+	12	2012	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	CDH4_ENST00000543233.1_Missense_Mutation_p.P568S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	642	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACGTCGACCCCAACATCGG	0.652000													58	37					0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144631	55144631	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:55144631A>T	ENST00000257290.5	+	15	2436	c.2105A>T	c.(2104-2106)aAg>aTg	p.K702M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K462M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	702	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGAAGCCAAAGAAAGAGCTG	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			13	24					0	0	0.002450	0	0
CDH11	1009	broad.mit.edu	37	16	65005942	65005942	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:65005942G>A	ENST00000394156.3	-	10	1869	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	CDH11_ENST00000268603.4_Silent_p.V472V|CDH11_ENST00000566827.1_Silent_p.V346V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGCCACTGGGACTTTGGCTT	0.468000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	30					0	0	0.001855	0	0
TLL1	7092	broad.mit.edu	37	4	166964482	166964482	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:166964482C>T	ENST00000061240.2	+	12	2082	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	TLL1_ENST00000507499.1_Missense_Mutation_p.P479S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	479	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCCAATTATCCTGATGACTA	0.423000													32	29					0	0	0.002445	0	0
SHE	126669	broad.mit.edu	37	1	154459014	154459014	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:154459014C>T	ENST00000304760.2	-	4	1256	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	390										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGCTTCTCCAGGGGCAGGC	0.572000													11	82					0	0	0.001368	0	0
PAK7	57144	broad.mit.edu	37	20	9543656	9543656	+	Missense_Mutation	SNP	C	C	T	rs140682624		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:9543656C>T	ENST00000378429.3	-	7	2044	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	PAK7_ENST00000353224.5_Missense_Mutation_p.D500N|PAK7_ENST00000378423.1_Missense_Mutation_p.D500N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	500	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.D500N(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGTGGTAATCCCGCATGATC	0.458000													94	36					0	0	0.003610	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825582	34825582	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:34825582T>C	ENST00000192788.5	+	13	1826	c.1655T>C	c.(1654-1656)tTt>tCt	p.F552S	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.F552S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	552										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGAAACCTCTTTTGCCTGGAT	0.433000													60	46					0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1459899	1459899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:1459899G>A	ENST00000345913.4	+	7	755	c.664G>A	c.(664-666)Gat>Aat	p.D222N	TPO_ENST00000382201.3_Missense_Mutation_p.D222N|TPO_ENST00000349624.3_Missense_Mutation_p.D222N|TPO_ENST00000382198.1_Missense_Mutation_p.D222N|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.D222N|TPO_ENST00000329066.4_Missense_Mutation_p.D222N|TPO_ENST00000337415.3_Missense_Mutation_p.D222N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	222					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTTGTCACAGATGATGACCG	0.532000													15	15					0	0	0.004007	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891129	18891129	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:18891129G>A	ENST00000317658.3	+	0	85					NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGATGGGAAAGGTGGCTCATG	0.443000													15	17					0	0	0.003163	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025151	16025151	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16025151G>A	ENST00000402119.3	-	11	1787	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	CYP4F11_ENST00000326742.7_Silent_p.V432V|CYP4F11_ENST00000248041.7_Missense_Mutation_p.S454L	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	454					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AGCCAGAGGTGACCTCTCCTT	0.577000													50	88					0	0	0.003610	0	0
KCNN3	3782	broad.mit.edu	37	1	154698442	154698442	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:154698442C>T	ENST00000271915.3	-	5	1966	c.1651G>A	c.(1651-1653)Gcg>Acg	p.A551T	KCNN3_ENST00000358505.2_Missense_Mutation_p.A238T|KCNN3_ENST00000361147.4_Missense_Mutation_p.A246T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	556						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGCTTCTCCGCTTTGGTGAGT	0.567000													17	44					0	0	0.008871	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433775	73433775	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:73433775C>T	ENST00000263666.4	-	10	2056	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	PDZRN3_ENST00000535920.1_Missense_Mutation_p.E370K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E365K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E305K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E305K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	648							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCAGGAGCTCGCGGAAGCGC	0.657000													35	33					0	0	0.002836	0	0
STAT6	6778	broad.mit.edu	37	12	57493220	57493220	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:57493220G>A	ENST00000300134.3	-	16	2073	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	STAT6_ENST00000543873.2_Missense_Mutation_p.S583F|STAT6_ENST00000556155.1_Missense_Mutation_p.S583F|STAT6_ENST00000537215.2_Missense_Mutation_p.S473F|STAT6_ENST00000454075.3_Missense_Mutation_p.S583F|STAT6_ENST00000538913.2_Missense_Mutation_p.S473F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	583	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TATCTGTGGAGAGCCTATGGT	0.527000													25	28					0	0	0.003954	0	0
CADM2	253559	broad.mit.edu	37	3	85984998	85984998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:85984998G>A	ENST00000383699.3	+	7	1409	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CADM2_ENST00000407528.2_Missense_Mutation_p.G252E|CADM2_ENST00000405615.2_Missense_Mutation_p.G254E	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	252	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAATCCAAAGGAAAACCACTG	0.318000													18	71					0	0	0.007413	0	0
RP1	6101	broad.mit.edu	37	8	55542149	55542149	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55542149G>A	ENST00000220676.1	+	4	5855	c.5707G>A	c.(5707-5709)Gaa>Aaa	p.E1903K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1903					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACACTTCAGGAAGCTGACTC	0.403000													24	16					0	0	0.003330	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630441	51630441	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:51630441C>T	ENST00000440804.3	+	4	970	c.903C>T	c.(901-903)aaC>aaT	p.N301N	SIGLEC9_ENST00000250360.3_Silent_p.N301N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	301	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGCCCTCAAACCCGGGGGTGC	0.622000													30	42					0	0	0.007291	0	0
FGF21	26291	broad.mit.edu	37	19	49259613	49259613	+	Silent	SNP	C	C	T	rs145274354		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:49259613C>T	ENST00000593756.1	+	2	692	c.120C>T	c.(118-120)ttC>ttT	p.F40F	FGF21_ENST00000222157.3_Silent_p.F40F			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	40					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCCTGCAATTCGGGGGCCAAG	0.632000													9	19					0	0	0.008291	0	0
ADAM7	8756	broad.mit.edu	37	8	24357708	24357708	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:24357708C>T	ENST00000175238.6	+	18	2024	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.L647L|ADAM7_ENST00000520720.1_Silent_p.L419L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	647	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gccacggaCTCCAGTGCCACT	0.428000													12	13					0	0	0.001855	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569311	2569311	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:2569311C>T	ENST00000564543.1	+	2	1175	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	ATP6V0C_ENST00000330398.4_Missense_Mutation_p.P58S|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.P15S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.P40L|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.P15S																							GTCCATCATCCCAGTGGTCAT	0.597000													14	26					0	0	0.001855	0	0
DGKH	160851	broad.mit.edu	37	13	42729877	42729877	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:42729877C>T	ENST00000538674.1	+	2	207	c.62C>T	c.(61-63)tCt>tTt	p.S21F	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Silent_p.F188F|DGKH_ENST00000540693.1_Silent_p.F188F|DGKH_ENST00000536612.1_Silent_p.F52F|DGKH_ENST00000379274.2_Silent_p.F52F|DGKH_ENST00000337343.4_Silent_p.F188F			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	0					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GACCCACCTTCTGTAACGTGT	0.517000													18	15					0	0	0.006122	0	0
GAREM	64762	broad.mit.edu	37	18	29867420	29867420	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:29867420G>A	ENST00000399218.4	-	4	1195	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	GAREM_ENST00000269209.6_Silent_p.T380T|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.T380I(1)									GGAAGGACTGGGTGAGCTCAT	0.572000													5	38					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158655074	158655074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:158655074C>T	ENST00000368148.3	-	2	268	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E30K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	30					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCAACACTTCCTGACGCCTC	0.473000													35	109					0	0	0.002222	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247300	55247300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55247300G>A	ENST00000291860.1	+	7	1086	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	356						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTGTAATGGACCAAGAGC	0.522000													29	9					0	0	0.003755	0	0
ANK2	287	broad.mit.edu	37	4	114262932	114262932	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:114262932G>A	ENST00000357077.4	+	33	4035	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_ENST00000264366.6_Missense_Mutation_p.A1295T|ANK2_ENST00000394537.3_Missense_Mutation_p.A1328T|ANK2_ENST00000509550.1_Missense_Mutation_p.A504T|ANK2_ENST00000506722.1_Missense_Mutation_p.A1319T|ANK2_ENST00000504887.1_3'UTR	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1295					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCTTATATGGCCAAATTTGT	0.393000													41	43					0	0	0.006999	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254328	1254328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1254328G>A	ENST00000348261.5	+	10	2569	c.2321G>A	c.(2320-2322)tGg>tAg	p.W774*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.W774*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.W774*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	774					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGCCAGGCTGGATGGGCCGC	0.692000													5	6					0	0	0.001168	0	0
SHQ1	55164	broad.mit.edu	37	3	72891553	72891553	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:72891553C>T	ENST00000325599.8	-	3	348	c.208_splice	c.e3-1	p.G70_splice	SHQ1_ENST00000463369.1_Splice_Site_p.G42_splice	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	70	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GGTAAAAATTCCTTAAAGATA	0.418000													4	25					0	0	0.000248	0	0
LRRC15	131578	broad.mit.edu	37	3	194080247	194080247	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:194080247G>A	ENST00000347624.3	-	2	1611	c.1526C>T	c.(1525-1527)aCc>aTc	p.T509I	LRRC15_ENST00000428839.1_Missense_Mutation_p.T515I|LRRC15_ENST00000439944.2_Missense_Mutation_p.T515I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	509						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		CACAGGGCTGGTTAGCTCAGT	0.572000													6	28					0	0	0.001168	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821451	26821451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26821451G>A	ENST00000444914.3	+	9	1796	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	SLC13A2_ENST00000545060.1_Nonsense_Mutation_p.W367*|SLC13A2_ENST00000537681.1_Nonsense_Mutation_p.W339*|SLC13A2_ENST00000314669.5_Nonsense_Mutation_p.W410*	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	410						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTCCTCGACTGGAAGACGGTG	0.577000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	43					0	0	0.007291	0	0
VEGFC	7424	broad.mit.edu	37	4	177608419	177608419	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177608419C>T	ENST00000280193.2	-	6	1482	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACATTTTCCAGGATTTAG	0.438000													50	79					0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474346	127474346	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127474346C>T	ENST00000262461.2	+	8	1655	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S489F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	489					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTTCTTTTCTGTATTTGCC	0.358000													12	31					0	0	0.001855	0	0
XKR4	114786	broad.mit.edu	37	8	56270244	56270244	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:56270244C>T	ENST00000327381.5	+	2	913	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	271						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTAGATATTTCCACACAATAT	0.388000													13	19					0	0	0.002450	0	0
GPR6	2830	broad.mit.edu	37	6	110301029	110301029	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:110301029C>T	ENST00000414000.2	+	3	998	c.759C>T	c.(757-759)ttC>ttT	p.F253F	GPR6_ENST00000275169.3_Silent_p.F238F			P46095	GPR6_HUMAN	G protein-coupled receptor 6	238						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TCATGGTCTTCGGCATCATGC	0.697000													3	5					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216262377	216262377	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216262377G>A	ENST00000366943.2	-	23	5249	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I	USH2A_ENST00000307340.3_Silent_p.I1621I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1621	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATCCAGAGTGATTTGGCCAA	0.353000										HNSCC(13;0.011)			19	72					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179553825	179553825	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179553825C>T	ENST00000589042.1	-	125	32274	c.32050G>A	c.(32050-32052)Gtt>Att	p.V10684I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V10367I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9440I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10367	Glu-rich.|Pro-rich.						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)			GGCACTGCAACTTTCTCCTCT	0.418000													18	44					0	0	0.002299	0	0
FAM3D	131177	broad.mit.edu	37	3	58622068	58622068	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:58622068C>T	ENST00000358781.2	-	9	848	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	180					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCTATGAAGACCCAGCTGTCC	0.547000													19	22					0	0	0.008871	0	0
NR1H4	9971	broad.mit.edu	37	12	100897197	100897197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:100897197C>T	ENST00000188403.7	+	1	60	c.32C>T	c.(31-33)cCa>cTa	p.P11L	NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.P11L|NR1H4_ENST00000549996.1_Intron	NM_001206992.1|NM_001206993.1	NP_001193921.1|NP_001193922.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	11					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TTAGAAAATCCAATTCAAATT	0.448000													10	5					0	0	0.001368	0	0
ERBB4	2066	broad.mit.edu	37	2	212488718	212488718	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212488718G>A	ENST00000342788.4	-	18	2441	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R711C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R701C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	711					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	p.R711C(1)		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)		TTCAAAATACGAAGTTGAGCT	0.423000										TSP Lung(8;0.080)			13	23					0	0	0.002450	0	0
PFAS	5198	broad.mit.edu	37	17	8172023	8172023	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:8172023C>T	ENST00000314666.6	+	27	3688	c.3555C>T	c.(3553-3555)tcC>tcT	p.S1185S	PFAS_ENST00000545834.1_Silent_p.S761S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1185	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCCTGACTCCCAGCCAGCCC	0.672000													16	29					0	0	0.003163	0	0
SDK2	54549	broad.mit.edu	37	17	71433942	71433942	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:71433942C>T	ENST00000392650.3	-	8	936	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SDK2_ENST00000388726.3_Silent_p.K312K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	312	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTTCTGGCTCCTTGACAAACT	0.587000													24	29					0	0	0.003954	0	0
THSD1	55901	broad.mit.edu	37	13	52952722	52952722	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:52952722C>T	ENST00000349258.4	-	4	1768	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	THSD1_ENST00000258613.4_Silent_p.K461K|THSD1_ENST00000544466.1_Silent_p.K82K	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	461						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CGTCCGAGTTCTTCCGGAAGC	0.642000													14	19					0	0	0.002450	0	0
XIST	7503	broad.mit.edu	37	X	73071822	73071822	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73071822C>T	ENST00000429829.1	-	0	766					NR_001564.2																						TTTTTTCATCCATAAAAAGCA	0.438000													9	5					0	0	0.006214	0	0
RCAN2	10231	broad.mit.edu	37	6	46216487	46216487	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:46216487C>T	ENST00000371374.1	-	3	563	c.372G>A	c.(370-372)ggG>ggA	p.G124G	RCAN2_ENST00000306764.7_Silent_p.G124G|RCAN2_ENST00000405162.1_Silent_p.G124G|RCAN2_ENST00000330430.6_Silent_p.G78G	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	78					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTAATTTTTTCCCTCTGAATT	0.353000													4	30					0	0	0.000248	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777680	43777680	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:43777680C>A	ENST00000389420.3	-	30	4552	c.4553G>T	c.(4552-4554)cGa>cTa	p.R1518L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1518	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAACAAGGTCGGGTGGACTG	0.493000													28	35					6.50621e-10	7.79884e-10	0.002836	1	0
ZMYM4	9202	broad.mit.edu	37	1	35870710	35870710	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35870710G>A	ENST00000314607.6	+	24	3695	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L	ZMYM4_ENST00000373297.2_Silent_p.L1116L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1205					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATGACACTGAAATACATGT	0.478000													17	36					0	0	0.004990	0	0
KANK4	163782	broad.mit.edu	37	1	62739307	62739307	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:62739307G>A	ENST00000371153.4	-	3	1847	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	490										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTATGTACAGAGGAGGTAAG	0.572000													24	59					0	0	0.003330	0	0
PCSK5	5125	broad.mit.edu	37	9	78547371	78547371	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:78547371C>A	ENST00000545128.1	+	2	807	c.269C>A	c.(268-270)aCc>aAc	p.T90N	PCSK5_ENST00000376767.3_Missense_Mutation_p.T90N|PCSK5_ENST00000376752.4_Missense_Mutation_p.T90N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	90					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCAGAGGGACCCACAGTTTC	0.468000													16	29					5.01169e-05	5.97502e-05	0.004990	1	0
ARVCF	421	broad.mit.edu	37	22	19960554	19960554	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:19960554G>A	ENST00000263207.3	-	15	2735	c.2444C>T	c.(2443-2445)tCg>tTg	p.S815L	ARVCF_ENST00000406522.1_Missense_Mutation_p.S746L|ARVCF_ENST00000406259.1_Missense_Mutation_p.S809L|ARVCF_ENST00000401994.1_Missense_Mutation_p.S752L|ARVCF_ENST00000344269.3_Missense_Mutation_p.S752L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	815					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTCGCGTACCGATTGGCTGTG	0.687000													34	34					0	0	0.002445	0	0
SYNE1	23345	broad.mit.edu	37	6	152763287	152763287	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:152763287G>A	ENST00000367255.5	-	31	4532	c.3931C>T	c.(3931-3933)Cac>Tac	p.H1311Y	SYNE1_ENST00000413186.2_Missense_Mutation_p.H1311Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1377Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1311Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1311Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1301Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1318Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1318Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1311					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCTCGTGGCCTCGGTCA	0.632000										HNSCC(10;0.0054)			25	15					0	0	0.003330	0	0
GFAP	2670	broad.mit.edu	37	17	42988759	42988759	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42988759A>C	ENST00000253408.5	-	6	1037	c.972T>G	c.(970-972)taT>taG	p.Y324*	GFAP_ENST00000435360.2_Nonsense_Mutation_p.Y324*|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Nonsense_Mutation_p.Y324*	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	324	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCGCCTCCTGATAACTGGCCG	0.682000													14	24					0	0	0.004990	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603971	26603971	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26603971G>A	ENST00000577198.1	-	0	990					NR_028334.1																						TCAGGTTCTCGATGGTCTTGA	0.522000													22	36					0	0	0.002780	0	0
PEAK1	79834	broad.mit.edu	37	15	77471555	77471555	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:77471555G>A	ENST00000560626.2	-	4	3189	c.2714C>T	c.(2713-2715)gCt>gTt	p.A905V	PEAK1_ENST00000558305.1_Missense_Mutation_p.A905V|PEAK1_ENST00000312493.4_Missense_Mutation_p.A905V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	905					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AACTGATTCAGCTTCTGTTGA	0.507000													25	40					0	0	0.003954	0	0
LVRN	206338	broad.mit.edu	37	5	115335491	115335491	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115335491T>A	ENST00000357872.4	+	7	1531	c.1407T>A	c.(1405-1407)aaT>aaA	p.N469K	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		469					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTTTACATAATATCCTCAGAG	0.378000													14	15					0	0	0.001855	0	0
TRAV30	28652	broad.mit.edu	37	14	22636337	22636337	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22636337C>T	ENST00000557168.1	+	0	13																											GGAGACTCTCCTGAAAGTGCT	0.468000													69	68					0	0	0.003610	0	0
BCAN	63827	broad.mit.edu	37	1	156617415	156617415	+	Silent	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156617415C>A	ENST00000329117.4	+	4	918	c.582C>A	c.(580-582)gcC>gcA	p.A194A	BCAN_ENST00000361588.5_Silent_p.A194A|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	194	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTCTATGCCGCCTACCTTG	0.632000													43	90					8.20599e-20	9.91993e-20	0.002852	1	0
OR7D4	125958	broad.mit.edu	37	19	9325175	9325175	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9325175G>A	ENST00000308682.2	-	1	367	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGTAGGAAAGTATCCA	0.527000													17	25					0	0	0.004990	0	0
BMPER	168667	broad.mit.edu	37	7	34118752	34118752	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:34118752C>T	ENST00000297161.2	+	13	1736	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	BMPER_ENST00000426693.1_Silent_p.F454F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	454	VWFD.				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						CGCCACACTTCCACATCGACC	0.652000													18	42					0	0	0.007413	0	0
FAM83B	222584	broad.mit.edu	37	6	54806470	54806470	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54806470G>A	ENST00000306858.7	+	5	2817	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	901										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGATTCAAGGGAGATTAATGC	0.468000													20	24					0	0	0.001882	0	0
PARM1	25849	broad.mit.edu	37	4	75937638	75937638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75937638G>A	ENST00000307428.7	+	2	259	c.47G>A	c.(46-48)tGg>tAg	p.W16*	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	16					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCACAGGATGGAGGGTACAG	0.438000													17	18					0	0	0.006122	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161126	233161126	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233161126C>T	ENST00000258229.8	-	26	4605	c.4371G>A	c.(4369-4371)agG>agA	p.R1457R	PCNXL2_ENST00000344698.2_Silent_p.R109R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1457						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTCTACCTCCCTCTGCTGGC	0.552000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	39					0	0	0.004990	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207639	116207639	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:116207639C>T	ENST00000369252.4	-	15	1856	c.1555_splice	c.e15+1	p.G519_splice	ABLIM1_ENST00000392952.3_Splice_Site_p.G256_splice|ABLIM1_ENST00000533213.2_Splice_Site_p.G519_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.G256_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.G579_splice|ABLIM1_ENST00000369253.2_Splice_Site_p.G202_splice	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	579					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGTTGCATACCTACGACAGCA	0.483000													4	23					0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170096222	170096222	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:170096222C>T	ENST00000263816.3	-	26	4394	c.4109G>A	c.(4108-4110)gGg>gAg	p.G1370E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1370	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCATTTAGCCCCAAAGGGCTC	0.403000													20	36					0	0	0.008871	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339090	13339090	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:13339090G>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						TTGGAATTCAGGGCATTGCTA	0.423000													7	3					0	0	0.003080	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845150	65845150	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:65845150G>A	ENST00000395325.3	+	5	595	c.438G>A	c.(436-438)cgG>cgA	p.R146R	DNAJC6_ENST00000263441.7_Silent_p.R133R|DNAJC6_ENST00000371069.4_Silent_p.R203R	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	146	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTGTGTGTCGGAATATGTATA	0.463000													30	36					0	0	0.002445	0	0
APCDD1	147495	broad.mit.edu	37	18	10471870	10471870	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:10471870T>A	ENST00000355285.4	+	3	940	c.586T>A	c.(586-588)Tgt>Agt	p.C196S	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	196					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGAGAACGGCTGTGAGTGCAC	0.622000													70	25					0	0	0.003610	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115671	52115671	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52115671G>A	ENST00000222107.4	-	9	1607	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S490F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S490F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S490F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S490F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	490					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCTTCCTGGAACCCTGAGT	0.478000													32	49					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9074696	9074696	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9074696C>T	ENST00000397910.4	-	3	12953	c.12750G>A	c.(12748-12750)acG>acA	p.T4250T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4252	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						CCTCCATATTCGTCACTGCTG	0.478000													25	52					0	0	0.008361	0	0
EXTL3	2137	broad.mit.edu	37	8	28575513	28575513	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:28575513C>T	ENST00000220562.4	+	3	2839	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	EXTL3_ENST00000523149.1_Missense_Mutation_p.S262F|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	646						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCTGGGGGTTCTGGCAAGGAA	0.552000													11	14					0	0	0.001368	0	0
DENND1B	163486	broad.mit.edu	37	1	197564452	197564452	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:197564452C>T	ENST00000235453.4	-	14	1120	c.843G>A	c.(841-843)ttG>ttA	p.L281L	DENND1B_ENST00000400967.2_Silent_p.L281L|DENND1B_ENST00000367396.3_Silent_p.L311L			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	311	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTTTATTTTTCAAGGCCGAGA	0.473000													41	106					0	0	0.007835	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165093	60165093	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:60165093C>T	ENST00000261187.4	+	3	475	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SLC16A7_ENST00000547379.1_Missense_Mutation_p.S104F|SLC16A7_ENST00000552432.1_Missense_Mutation_p.S104F|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S104F|SLC16A7_ENST00000543448.1_Missense_Mutation_p.S5F	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	104						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTGTTGGCCTCCTTTAGTAGC	0.443000													30	76					0	0	0.001786	0	0
CACNG3	10368	broad.mit.edu	37	16	24372868	24372868	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24372868C>T	ENST00000005284.3	+	4	1834	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGAGCCAAATCCCACTCGGAG	0.498000													28	32					0	0	0.001786	0	0
ABCB11	8647	broad.mit.edu	37	2	169791706	169791706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:169791706C>T	ENST00000263817.6	-	23	3168	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1015	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAACACATAGCTGAAATGGAG	0.438000													43	66					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39343797	39343797	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:39343797C>T	ENST00000280481.7	+	4	5709	c.5493C>T	c.(5491-5493)ggC>ggT	p.G1831G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1831	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAACCCAGGCCAGACCAGGG	0.507000													11	14					0	0	0.000978	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078631	40078631	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:40078631C>T	ENST00000336649.4	+	38	5813	c.5813C>T	c.(5812-5814)cCt>cTt	p.P1938L	CACNA1I_ENST00000402142.3_Missense_Mutation_p.P1932L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P1897L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P1932L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1897L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P1897L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1932					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCATTCAACCCTGTCCGGTCC	0.597000													11	24					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9048722	9048722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9048722C>T	ENST00000397910.4	-	5	33112	c.32909G>A	c.(32908-32910)gGg>gAg	p.G10970E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10972	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						AGCTTCTGTCCCATGACTGGT	0.478000													19	41					0	0	0.007413	0	0
USP42	84132	broad.mit.edu	37	7	6189901	6189901	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:6189901C>T	ENST00000306177.5	+	13	2232	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	692					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTCAGAAAATCCCTTTGCTAA	0.572000													8	14					0	0	0.006214	0	0
IZUMO4	113177	broad.mit.edu	37	19	2098799	2098799	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2098799A>G	ENST00000395307.2	+	8	1115	c.550A>G	c.(550-552)Atg>Gtg	p.M184V	IZUMO4_ENST00000588003.1_Intron|IZUMO4_ENST00000395301.3_Missense_Mutation_p.M184V	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	184						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GGACACGAGCATGAGGTAAGG	0.632000													13	17					0	0	0.003163	0	0
SELP	6403	broad.mit.edu	37	1	169580879	169580879	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169580879C>T	ENST00000263686.6	-	7	1035	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SELP_ENST00000367788.2_Missense_Mutation_p.G271E|SELP_ENST00000367793.2_Missense_Mutation_p.G271E|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	333	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATGGTTCCTTCACTGGG	0.517000													57	58					0	0	0.003610	0	0
RAI14	26064	broad.mit.edu	37	5	34811966	34811966	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:34811966G>A	ENST00000265109.3	+	9	939	c.652G>A	c.(652-654)Gga>Aga	p.G218R	RAI14_ENST00000506376.1_Missense_Mutation_p.G210R|RAI14_ENST00000503673.1_Missense_Mutation_p.G218R|RAI14_ENST00000397449.1_Missense_Mutation_p.G211R|RAI14_ENST00000512629.1_Missense_Mutation_p.G218R|RAI14_ENST00000428746.2_Missense_Mutation_p.G218R|RAI14_ENST00000515799.1_Missense_Mutation_p.G221R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	218						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTTGGATACAATGC	0.393000													18	26					0	0	0.004990	0	0
FBXL2	25827	broad.mit.edu	37	3	33400823	33400823	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:33400823C>T	ENST00000484457.1	+	4	260	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	FBXL2_ENST00000507198.1_Missense_Mutation_p.L57F|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.L57F|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Intron	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	57					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGAATAGATCTTTTTAACTT	0.378000													11	13					0	0	0.001368	0	0
USP6	9098	broad.mit.edu	37	17	5050444	5050444	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:5050444C>T	ENST00000574788.1	+	29	4616	c.2386C>T	c.(2386-2388)Cct>Tct	p.P796S	USP6_ENST00000250066.6_Missense_Mutation_p.P796S|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.P479S			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	796					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTGAAATTCCTGTCCCTTC	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								16	29					0	0	0.004990	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362941	22362941	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22362941C>T	ENST00000390438.2	+	0	200																											AGTCGGTGACCCAGCTTGGCA	0.488000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	21					0	0	0.008871	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853379	70853379	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:70853379G>A	ENST00000333538.5	+	3	1215	c.581G>A	c.(580-582)aGc>aAc	p.S194N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	194	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATGACAACAGCGACGAAGGT	0.577000													8	15					0	0	0.003080	0	0
DSCAM	1826	broad.mit.edu	37	21	42064790	42064790	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:42064790C>T	ENST00000400454.1	-	3	931	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	152	Ig-like C2-type 2.				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)				ATGTACGCCTCCACCGAGGAG	0.537000													23	33					0	0	0.002299	0	0
KPNA2	3838	broad.mit.edu	37	17	66033503	66033503	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:66033503T>C	ENST00000537025.2	+	3	725	c.105T>C	c.(103-105)aaT>aaC	p.N35N	KPNA2_ENST00000330459.3_Silent_p.N35N			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	35	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAGGTCAATGTGGAGCTGA	0.438000													46	42					0	0	0.003610	0	0
GCAT	23464	broad.mit.edu	37	22	38212689	38212689	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38212689C>T	ENST00000323205.6	+	9	1365	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	GCAT_ENST00000248924.6_Silent_p.F408F	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	408					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGAGGCCTTCGTGGAAGTGG	0.622000													24	36					0	0	0.006320	0	0
SPICE1	152185	broad.mit.edu	37	3	113218403	113218403	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:113218403C>T	ENST00000295872.4	-	4	433	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	58					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTATTCTTCGATTTGTGTA	0.363000													5	14					0	0	0.001168	0	0
RASSF4	83937	broad.mit.edu	37	10	45485153	45485153	+	Silent	SNP	C	C	T	rs11540204	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:45485153C>T	ENST00000334940.6	+	8	830	c.696C>T	c.(694-696)atC>atT	p.I232I	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Silent_p.I223I			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	223	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACTCTACATCGTTCACGAGT	0.557000													17	24					0	0	0.007413	0	0
MMP16	4325	broad.mit.edu	37	8	89180048	89180048	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:89180048T>G	ENST00000286614.6	-	4	840	c.559A>C	c.(559-561)Att>Ctt	p.I187L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	187					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GATGCAAAAATAATGGTTATA	0.453000													5	22					0	0	0.001168	0	0
COL4A4	1286	broad.mit.edu	37	2	227979412	227979412	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227979412C>T	ENST00000396625.3	-	8	697	c.489_splice	c.e8-1	p.G164_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G164_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	164	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGATGGCCCTGAAAATAA	0.299000													8	25					0	0	0.003080	0	0
LGR5	8549	broad.mit.edu	37	12	71978369	71978369	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:71978369A>C	ENST00000266674.5	+	18	2890	c.2579A>C	c.(2578-2580)cAg>cCg	p.Q860P	LGR5_ENST00000536515.1_Missense_Mutation_p.Q788P|LGR5_ENST00000540815.2_Missense_Mutation_p.Q836P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	860						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCGAAAAACAGTCCTGTGAC	0.468000													172	187					0	0	0.003610	0	0
POU2F2	5452	broad.mit.edu	37	19	42603737	42603737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42603737G>A	ENST00000389341.5	-	7	509	c.443C>T	c.(442-444)cCt>cTt	p.P148L	POU2F2_ENST00000533720.1_Missense_Mutation_p.P148L|POU2F2_ENST00000529952.1_Missense_Mutation_p.P148L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P170L|POU2F2_ENST00000529067.1_Missense_Mutation_p.P148L|POU2F2_ENST00000526816.2_Missense_Mutation_p.P148L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P148L|POU2F2_ENST00000560558.1_Missense_Mutation_p.P109L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	148					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTTTGCTGAGGTAGCTGGAA	0.597000													17	17					0	0	0.006122	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59483414G>A	ENST00000312828.3	-	2	1382	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000													9	32					0	0	0.004482	0	0
VPS41	27072	broad.mit.edu	37	7	38797964	38797964	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:38797964G>A	ENST00000310301.4	-	18	1594	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	VPS41_ENST00000395969.2_Silent_p.L489L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	514					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AATTCTGCCAGGGTTTTAAGT	0.363000													13	14					0	0	0.001368	0	0
CDH12	1010	broad.mit.edu	37	5	21854789	21854789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:21854789G>A	ENST00000382254.1	-	7	1723	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.P213S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTGTCTTGGGATCAATAGAG	0.398000										HNSCC(59;0.17)			5	17					0	0	0.001168	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020845	46020845	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:46020845C>T	ENST00000380102.2	+	1	349	c.324C>T	c.(322-324)tcC>tcT	p.S108S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	108	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCTCCTCCCCCTGCCAGC	0.637000													8	26					0	0	0.000978	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													10	10					0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228486395	228486395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:228486395C>T	ENST00000570156.2	+	49	13261	c.13187C>T	c.(13186-13188)aCc>aTc	p.T4396I	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1086I|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3439	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGAGAGGACCTCGGCCACG	0.537000													13	33					0	0	0.002450	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774950	234774950	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234774950C>T	ENST00000438684.1	-	0	1164					NR_024322.1																						CCAAGAATTTCTGGAAGTTTG	0.433000													14	21					0	0	0.002450	0	0
TNNC2	7125	broad.mit.edu	37	20	44453461	44453461	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44453461C>T	ENST00000372555.3	-	2	108	c.16G>A	c.(16-18)Gct>Act	p.A6T	TNNC2_ENST00000372557.1_5'UTR	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	6					muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTGGCCTCAGCCTGCTGGTCC	0.602000													20	103					0	0	0.003954	0	0
CADM3	57863	broad.mit.edu	37	1	159163717	159163717	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159163717C>T	ENST00000368125.4	+	5	735	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CADM3_ENST00000368124.4_Missense_Mutation_p.S227L	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	193	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	p.S227L(1)		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)					GTCAGCAGCTCGGTGACATTC	0.522000													8	30					0	0	0.003080	0	0
PTPN21	11099	broad.mit.edu	37	14	88946640	88946640	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88946640C>T	ENST00000556564.1	-	13	1419	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	PTPN21_ENST00000328736.3_Missense_Mutation_p.D379N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	379						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGGCTCTATCCAAGCTTGTC	0.438000													24	26					0	0	0.007291	0	0
ZNF418	147686	broad.mit.edu	37	19	58437712	58437712	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58437712G>A	ENST00000396147.1	-	4	2128	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H528Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.H634Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H613Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H613N(1)		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)		CCTCGAGTATGAAGTCTCTGA	0.453000													23	9					0	0	0.002780	0	0
EIF3A	8661	broad.mit.edu	37	10	120801566	120801566	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:120801566G>A	ENST00000369144.3	-	19	3593	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1122W|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1156	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGGGAAACCGATCATCATCA	0.493000													13	29					0	0	0.001368	0	0
HLX	3142	broad.mit.edu	37	1	221057728	221057728	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:221057728C>T	ENST00000366903.6	+	4	2650	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	HLX_ENST00000549319.1_Silent_p.S169S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	383	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ACTCCGAGTCCCTGGACATGG	0.642000													15	33					0	0	0.006122	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943931	109943931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:109943931C>T	ENST00000218054.4	-	7	753	c.557G>A	c.(556-558)tGg>tAg	p.W186*	CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W186*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W107*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W187*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W107*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W186*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W180*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	180					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGAATGTTCCCATGACAGTTC	0.398000													22	14					0	0	0.002299	0	0
FAM83B	222584	broad.mit.edu	37	6	54805524	54805524	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54805524G>A	ENST00000306858.7	+	5	1871	c.1755G>A	c.(1753-1755)acG>acA	p.T585T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	585										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACACCCCTACGAATGTACAGC	0.463000													23	19					0	0	0.003954	0	0
ACO2	50	broad.mit.edu	37	22	41913580	41913580	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:41913580C>T	ENST00000396512.3	+	7	977	c.960C>T	c.(958-960)tcC>tcT	p.S320S	ACO2_ENST00000216254.4_Silent_p.S295S|ACO2_ENST00000466237.1_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	295					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCACCACTTCCGTGTTCCCTT	0.622000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.001368	0	0
CILP	8483	broad.mit.edu	37	15	65490953	65490953	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65490953G>A	ENST00000261883.4	-	9	1837	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	557					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTTCTTGTTGAAAGGTAGCA	0.527000													17	22					0	0	0.004990	0	0
FAM135B	51059	broad.mit.edu	37	8	139163864	139163864	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139163864C>T	ENST00000395297.1	-	13	3024	c.2854G>A	c.(2854-2856)Ggc>Agc	p.G952S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	952										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTGCTGGCCTGTTGAGTTC	0.493000										HNSCC(54;0.14)			15	56					0	0	0.004007	0	0
PNPLA1	285848	broad.mit.edu	37	6	36275387	36275387	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:36275387A>T	ENST00000394571.2	+	8	1493	c.1493A>T	c.(1492-1494)aAc>aTc	p.N498I	PNPLA1_ENST00000388715.3_Missense_Mutation_p.N403I|PNPLA1_ENST00000312917.5_Missense_Mutation_p.N412I	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	498					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAAGACTCAAACTGGGTGAAT	0.493000													18	48					0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10303856	10303856	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10303856G>A	ENST00000403437.2	-	27	3680	c.3586C>T	c.(3586-3588)Cgg>Tgg	p.R1196W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1196					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						TGCTTCTTCCGAAGAGCAGCC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				34	34					0	0	0.002445	0	0
HYDIN	54768	broad.mit.edu	37	16	71103368	71103368	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:71103368G>A	ENST00000393567.2	-	14	1926	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	HYDIN_ENST00000393550.2_Silent_p.T607T|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000288168.10_Silent_p.T609T|HYDIN_ENST00000448691.1_Silent_p.T592T|HYDIN_ENST00000448089.2_Silent_p.T592T|HYDIN_ENST00000321489.5_Silent_p.T592T|HYDIN_ENST00000541601.1_Silent_p.T609T|HYDIN_ENST00000538248.1_Silent_p.T619T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	592										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATCAAAGAGGTATTATTGA	0.438000													10	21					0	0	0.000978	0	0
CADM1	23705	broad.mit.edu	37	11	115047285	115047285	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:115047285C>T	ENST00000542447.2	-	9	1282	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	CADM1_ENST00000452722.2_Missense_Mutation_p.G413E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.G442E|CADM1_ENST00000537058.1_Missense_Mutation_p.G424E|CADM1_ENST00000536727.1_Missense_Mutation_p.G414E	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	413					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTCATCGGCTCCTTTGGCTTC	0.463000													37	16					0	0	0.007835	0	0
GNAI2	2771	broad.mit.edu	37	3	50293650	50293650	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:50293650C>T	ENST00000313601.6	+	5	875	c.491C>T	c.(490-492)gCa>gTa	p.A164V	GNAI2_ENST00000422163.1_Missense_Mutation_p.A148V|GNAI2_ENST00000440628.1_Missense_Mutation_p.A112V|GNAI2_ENST00000266027.5_Missense_Mutation_p.A148V|GNAI2_ENST00000451956.1_Missense_Mutation_p.A127V|GNAI2_ENST00000536647.1_Missense_Mutation_p.A83V|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	164					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGCGTATTGCACAGAGTGAC	0.597000													8	18					0	0	0.003080	0	0
KRT71	112802	broad.mit.edu	37	12	52941945	52941945	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52941945G>A	ENST00000267119.5	-	5	1038	c.969C>T	c.(967-969)taC>taT	p.Y323Y		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	323	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTTGGTCTGGTACAGGGCCT	0.582000													16	25					0	0	0.004007	0	0
LVRN	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115348125C>T	ENST00000357872.4	+	15	2426	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000													15	41					0	0	0.004007	0	0
CACNA1B	774	broad.mit.edu	37	9	140946556	140946556	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:140946556G>A	ENST00000277549.5	+	26	3880	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371357.1_Silent_p.G1242G|CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000371372.1_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577000													10	0					0	0	0.000978	0	0
DUSP27	92235	broad.mit.edu	37	1	167096701	167096701	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167096701C>T	ENST00000361200.2	+	6	2499	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	DUSP27_ENST00000443333.1_Missense_Mutation_p.S778F|DUSP27_ENST00000271385.5_Missense_Mutation_p.S778F|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	778					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAGCTCCTCCTTGGGTGGC	0.592000													17	30					0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734840	176734840	+	Missense_Mutation	SNP	C	C	T	rs144502400	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:176734840C>T	ENST00000367662.3	+	15	5354	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1397	Sushi 1.				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						GACAGCTGTCCGTCATTGCTG	0.493000													45	123					0	0	0.003610	0	0
KLHL1	57626	broad.mit.edu	37	13	70681625	70681625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:70681625C>T	ENST00000377844.4	-	1	966	c.207G>A	c.(205-207)tgG>tgA	p.W69*	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	69	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		aagGCTTCTTCCAGAAAGTGC	0.587000													8	30					0	0	0.003080	0	0
UMODL1	89766	broad.mit.edu	37	21	43531690	43531690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43531690G>A	ENST00000400427.1	+	11	2538	c.2142G>A	c.(2140-2142)tgG>tgA	p.W714*	UMODL1_ENST00000400424.1_Nonsense_Mutation_p.W586*|UMODL1_ENST00000408910.2_Nonsense_Mutation_p.W658*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.W786*	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	711	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTCCTGTGGCATGCCACCC	0.612000													7	23					0	0	0.001984	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:155203356C>T	ENST00000460012.1	-	22	3030	c.2673G>A	c.(2671-2673)agG>agA	p.R891R	PLCH1_ENST00000334686.6_Silent_p.R891R|PLCH1_ENST00000414191.1_Silent_p.R891R|PLCH1_ENST00000447496.2_Silent_p.R929R|PLCH1_ENST00000340059.7_Silent_p.R929R|PLCH1_ENST00000494598.1_Silent_p.R909R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	929					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCTTTTTCCTGCCTTTGG	0.498000													29	39					0	0	0.008361	0	0
S1PR4	8698	broad.mit.edu	37	19	3179830	3179830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3179830G>A	ENST00000246115.3	+	1	1095	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	347					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCTCACTCCGGAGCTTCCACC	0.692000													32	42					0	0	0.003755	0	0
TENM3	55714	broad.mit.edu	37	4	183714757	183714757	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:183714757T>A	ENST00000511685.1	+	26	7055	c.6932T>A	c.(6931-6933)cTt>cAt	p.L2311H	TENM3_ENST00000406950.2_Missense_Mutation_p.L2311H					teneurin transmembrane protein 3																		AGCAATGGGCTTATGCTGAAA	0.418000													5	18					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028267	37028267	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37028267C>T	ENST00000358047.3	+	1	1836	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	595										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCAGTCTCCCCCCGGAGCCC	0.647000													4	28					0	0	0.003080	0	0
SELE	6401	broad.mit.edu	37	1	169697230	169697230	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169697230C>T	ENST00000333360.7	-	8	1387	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Silent_p.G416G|SELE_ENST00000367774.1_Intron|SELE_ENST00000367777.1_Silent_p.G416G|SELE_ENST00000367781.4_Intron|SELE_ENST00000367775.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	416	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTCCCACTCCCCTGTGGGGC	0.458000													31	102					0	0	0.008361	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681080	234681080	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234681080G>A	ENST00000305139.6	+	5	1613	c.1474G>A	c.(1474-1476)Ggt>Agt	p.G492S	UGT1A4_ENST00000373409.3_Missense_Mutation_p.G494S|UGT1A3_ENST00000482026.1_Missense_Mutation_p.G494S|UGT1A1_ENST00000305208.5_Missense_Mutation_p.G493S|UGT1A5_ENST00000373414.3_Missense_Mutation_p.G494S|UGT1A6_ENST00000373424.1_Missense_Mutation_p.G225S|UGT1A7_ENST00000373426.3_Missense_Mutation_p.G490S|UGT1A8_ENST00000373450.4_Missense_Mutation_p.G490S|UGT1A9_ENST00000354728.4_Missense_Mutation_p.G490S|UGT1A10_ENST00000344644.5_Missense_Mutation_p.G490S	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GGACGTGATTGGTTTCCTCTT	0.547000													36	45					0	0	0.004878	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883979	19883979	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19883979G>A	ENST00000300571.2	-	2	380	c.189C>T	c.(187-189)gcC>gcT	p.A63A	GPRC5B_ENST00000569847.1_Silent_p.A63A|GPRC5B_ENST00000569479.1_Silent_p.A63A|GPRC5B_ENST00000537135.1_Silent_p.A89A|GPRC5B_ENST00000535671.1_Silent_p.A63A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	63										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCCCGCCCCGGCCACCGCCT	0.652000													12	20					0	0	0.001855	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403596	69403596	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:69403596G>A	ENST00000317746.2	-	6	1382	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	447					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGAATTCTTGATAATTTCAT	0.383000													32	10					0	0	0.003271	0	0
CEP164	22897	broad.mit.edu	37	11	117252450	117252450	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:117252450C>T	ENST00000278935.3	+	13	1590	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	481	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGAGCGGGCCCAGAGTCCCC	0.662000													4	2					0	0	0.000602	0	0
TAF9	6880	broad.mit.edu	37	5	68660828	68660828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:68660828C>T	ENST00000328663.4	-	3	1203	c.737G>A	c.(736-738)aGa>aAa	p.R246K	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.R246K|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.R246K	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		ttcaCGTTTTCTTTTCAATGC	0.328000													14	35					0	0	0.001855	0	0
KMT2A	4297	broad.mit.edu	37	11	118373344	118373344	+	Missense_Mutation	SNP	T	T	C	rs139450035		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:118373344T>C	ENST00000534358.1	+	27	6760	c.6737T>C	c.(6736-6738)gTt>gCt	p.V2246A	KMT2A_ENST00000389506.5_Missense_Mutation_p.V2243A|KMT2A_ENST00000354520.4_Missense_Mutation_p.V2205A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCCAAAGTAGTTGATCATGTC	0.423000													20	12					0	0	0.008871	0	0
PIGT	51604	broad.mit.edu	37	20	44049272	44049272	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44049272C>T	ENST00000279036.6	+	8	1052	c.972C>T	c.(970-972)gcC>gcT	p.A324A	PIGT_ENST00000545755.1_Silent_p.A62A|PIGT_ENST00000543458.2_Silent_p.A268A|PIGT_ENST00000535404.1_Silent_p.A169A|PIGT_ENST00000279035.9_Silent_p.A222A|PIGT_ENST00000372689.5_Silent_p.A324A|PIGT_ENST00000341555.5_Silent_p.A130A	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	324					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTGACACCGCCATGATCAACA	0.537000													33	19					0	0	0.002445	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55846720C>T	ENST00000322678.1	+	1	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000													21	30					0	0	0.008871	0	0
COL5A2	1290	broad.mit.edu	37	2	189901355	189901355	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:189901355T>C	ENST00000374866.3	-	52	4374	c.4100A>G	c.(4099-4101)aAc>aGc	p.N1367S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1367	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGACCCTCTGTTCATATCAAG	0.323000													10	9					0	0	0.008291	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774190	140774190	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140774190C>T	ENST00000398604.2	+	1	1810	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCTGGCTGTCCTACCG	0.697000													21	19					0	0	0.003954	0	0
PGAM2	5224	broad.mit.edu	37	7	44104771	44104771	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:44104771C>T	ENST00000297283.3	-	1	415	c.358G>A	c.(358-360)Gac>Aac	p.D120N	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	120					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCGGGATGTCGAAGGAGCGC	0.622000													8	15					0	0	0.004482	0	0
DUSP27	92235	broad.mit.edu	37	1	167096042	167096042	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167096042G>A	ENST00000361200.2	+	6	1840	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	DUSP27_ENST00000443333.1_Silent_p.K558K|DUSP27_ENST00000271385.5_Silent_p.K558K|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	558					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GATTTCACAAGAAAGACTTGG	0.552000													25	45					0	0	0.003330	0	0
USH2A	7399	broad.mit.edu	37	1	216062315	216062315	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216062315G>A	ENST00000366943.2	-	41	8062	c.7676C>T	c.(7675-7677)tCc>tTc	p.S2559F	USH2A_ENST00000307340.3_Missense_Mutation_p.S2559F|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2559	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCCCATTGGATTTTCTAGG	0.403000										HNSCC(13;0.011)			11	52					0	0	0.008291	0	0
TRANK1	9881	broad.mit.edu	37	3	36897004	36897004	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:36897004G>A	ENST00000429976.2	-	12	4324	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	TRANK1_ENST00000301807.6_Silent_p.S809S|TRANK1_ENST00000428977.2_Silent_p.S809S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1359					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACCTTTCTGGGACCTGATTT	0.473000													14	87					0	0	0.001855	0	0
TGM6	343641	broad.mit.edu	37	20	2378688	2378688	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:2378688C>T	ENST00000202625.2	+	5	729	c.668C>T	c.(667-669)gCc>gTc	p.A223V	TGM6_ENST00000381423.1_Missense_Mutation_p.A223V|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	223					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTCATCAGTGCCATGGTGAGA	0.597000													25	6					0	0	0.003330	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981326	7981326	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7981326C>T	ENST00000543909.1	-	11	1478	c.719G>A	c.(718-720)aGa>aAa	p.R240K	SLC2A14_ENST00000396589.2_Missense_Mutation_p.R240K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R255K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R131K|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R217K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R131K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R217K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	240					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTCTTTTTTTCTGTTAATGAG	0.433000													13	39					0	0	0.001855	0	0
L1TD1	54596	broad.mit.edu	37	1	62672774	62672774	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:62672774G>A	ENST00000498273.1	+	3	769	c.474G>A	c.(472-474)aaG>aaA	p.K158K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	158										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						atgatggtaagaaattacccc	0.338000													5	8					0	0	0.000602	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860892	38860892	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38860892C>T	ENST00000409235.3	+	28	3322	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I1029I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1069					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCTTTTCATCATCATGGTGA	0.577000													16	10					0	0	0.004007	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794271	140794271	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140794271C>T	ENST00000398610.2	+	1	1529	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATACATATCCATCAACTCA	0.527000													40	68					0	0	0.006230	0	0
RAI14	26064	broad.mit.edu	37	5	34811967	34811967	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:34811967G>A	ENST00000265109.3	+	9	940	c.653G>A	c.(652-654)gGa>gAa	p.G218E	RAI14_ENST00000506376.1_Missense_Mutation_p.G210E|RAI14_ENST00000503673.1_Missense_Mutation_p.G218E|RAI14_ENST00000397449.1_Missense_Mutation_p.G211E|RAI14_ENST00000512629.1_Missense_Mutation_p.G218E|RAI14_ENST00000428746.2_Missense_Mutation_p.G218E|RAI14_ENST00000515799.1_Missense_Mutation_p.G221E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	218						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GATTCTCTTGGATACAATGCC	0.388000													18	28					0	0	0.004990	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725564	140725564	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140725564C>T	ENST00000253812.6	+	1	1964	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_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)			CCCCCTCTCTCCGCCACTGTC	0.706000													25	38					0	0	0.008361	0	0
CASS4	57091	broad.mit.edu	37	20	55027160	55027160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:55027160C>T	ENST00000371336.3	+	5	1129	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CASS4_ENST00000360314.3_Missense_Mutation_p.P310S|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	310					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCCAGAAATTCCTTCTTATGG	0.463000													25	15					0	0	0.003330	0	0
NCOA5	57727	broad.mit.edu	37	20	44695779	44695779	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44695779G>A	ENST00000290231.6	-	5	708	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAATATTGACGATAAAGCTCT	0.433000													12	64					0	0	0.001855	0	0
KARS	3735	broad.mit.edu	37	16	75670389	75670389	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:75670389C>T	ENST00000319410.5	-	5	650	c.529G>A	c.(529-531)Gga>Aga	p.G177R	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.G149R	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	149					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ACCCCCTCTCCTCGAAGATCA	0.453000													62	109					0	0	0.003610	0	0
ATP11A	23250	broad.mit.edu	37	13	113487183	113487183	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:113487183G>A	ENST00000487903.1	+	14	1493	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	ATP11A_ENST00000375645.3_Missense_Mutation_p.E469K|ATP11A_ENST00000375630.2_Missense_Mutation_p.E469K|ATP11A_ENST00000283558.8_Missense_Mutation_p.E469K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	469					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGAGCGCGAGGAGCTGTTTTT	0.572000													34	106					0	0	0.005524	0	0
DPYD	1806	broad.mit.edu	37	1	98060702	98060702	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:98060702C>T	ENST00000370192.3	-	9	971	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	291					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.D291N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAGATGGCATCTTTATTGGGT	0.373000													25	30					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9049823	9049823	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9049823G>A	ENST00000397910.4	-	5	32011	c.31808C>T	c.(31807-31809)cCt>cTt	p.P10603L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10605	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						GGTCTCTGCAGGATGGATAAC	0.478000													23	40					0	0	0.003330	0	0
AFF1	4299	broad.mit.edu	37	4	88036097	88036097	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:88036097C>T	ENST00000307808.6	+	11	2511	c.2091C>T	c.(2089-2091)acC>acT	p.T697T	AFF1_ENST00000544085.1_Silent_p.T335T|AFF1_ENST00000395146.4_Silent_p.T704T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	697						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGGACAGGACCCCTGAGCACT	0.637000													6	32					0	0	0.001984	0	0
ZNF234	10780	broad.mit.edu	37	19	44660636	44660636	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44660636C>T	ENST00000426739.2	+	6	725	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ZNF234_ENST00000592437.1_Missense_Mutation_p.S156F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TACAAAAAATCCTTCACTGAT	0.413000													21	27					0	0	0.001523	0	0
FLG2	388698	broad.mit.edu	37	1	152326703	152326703	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152326703C>T	ENST00000388718.5	-	3	3631	c.3559G>A	c.(3559-3561)Gac>Aac	p.D1187N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1187	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAATTGTCTGAGCCAGAC	0.498000													18	77					0	0	0.006122	0	0
SH3D19	152503	broad.mit.edu	37	4	152069194	152069194	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:152069194C>T	ENST00000409598.4	-	11	2289	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	SH3D19_ENST00000304527.4_Silent_p.Q374Q|SH3D19_ENST00000409252.2_Silent_p.Q374Q|SH3D19_ENST00000455740.1_Silent_p.Q374Q|SH3D19_ENST00000514152.1_Silent_p.Q374Q|SH3D19_ENST00000424281.1_Silent_p.Q338Q|SH3D19_ENST00000427414.2_Silent_p.Q338Q			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	374					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTGTTTTTTCTGAAGATCCA	0.458000													16	20					0	0	0.004990	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20216295	20216295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:20216295C>T	ENST00000361479.5	+	2	322	c.254C>T	c.(253-255)tCg>tTg	p.S85L	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.S85L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	85	Chromo.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGCTATACATCGGATGATGAT	0.388000													6	12					0	0	0.001984	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640176	94640176	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:94640176C>T	ENST00000260526.6	-	23	3217	c.3035G>A	c.(3034-3036)aGg>aAg	p.R1012K		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1012					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AATCTTGGTCCTTGGAGTATG	0.403000													28	38					0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766795	77766795	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77766795G>A	ENST00000521891.2	+	10	8086	c.7638G>A	c.(7636-7638)ctG>ctA	p.L2546L	ZFHX4_ENST00000050961.6_Silent_p.L2501L|ZFHX4_ENST00000455469.2_Silent_p.L2501L|ZFHX4_ENST00000518282.1_Silent_p.L2520L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2501						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAATCCGCTGATGACTGGAC	0.527000										HNSCC(33;0.089)			30	22					0	0	0.003755	0	0
ZNF630	57232	broad.mit.edu	37	X	47919159	47919159	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47919159C>T	ENST00000276054.4	-	5	1234	c.300G>A	c.(298-300)aaG>aaA	p.K100K	ZNF630_ENST00000409324.3_Silent_p.K224K|ZNF630_ENST00000442455.3_Silent_p.K210K|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGAAGCCTTCCTTCTCAGGCA	0.398000													14	30					0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10412885	10412885	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10412885C>T	ENST00000226207.5	-	15	1598	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	502	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGTACTCCTCCTGCTCCAGC	0.488000													20	52					0	0	0.001882	0	0
ZNF335	63925	broad.mit.edu	37	20	44581340	44581340	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44581340G>A	ENST00000322927.2	-	19	2811	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	ZNF335_ENST00000426788.1_Missense_Mutation_p.P749L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTCTCCTGCGGGCTCCTCGCT	0.572000													10	58					0	0	0.008291	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208865975	208865975	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:208865975G>A	ENST00000457206.1	-	2	816	c.389C>T	c.(388-390)cCt>cTt	p.P130L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P130L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P130L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	130					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACAGAACGAGGCCGGTCCCT	0.483000													20	32					0	0	0.002780	0	0
FBXO18	84893	broad.mit.edu	37	10	5960373	5960373	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:5960373T>A	ENST00000379999.5	+	14	2289	c.2185T>A	c.(2185-2187)Tat>Aat	p.Y729N	FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.Y165N|FBXO18_ENST00000362091.4_Missense_Mutation_p.Y678N	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	678					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCAGATCTATACCTTCCG	0.527000													36	48					0	0	0.002836	0	0
DGKI	9162	broad.mit.edu	37	7	137092653	137092653	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:137092653T>G	ENST00000453654.1	-	30	2458	c.1919A>C	c.(1918-1920)aAc>aCc	p.N640T	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N953T|DGKI_ENST00000424189.2_Missense_Mutation_p.N984T|DGKI_ENST00000288490.5_Missense_Mutation_p.N971T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	971					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AATCTCCCCGTTGCCGGTTTT	0.428000													29	36					0	0	0.008361	0	0
SCD5	79966	broad.mit.edu	37	4	83719481	83719481	+	Silent	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:83719481G>T	ENST00000319540.4	-	1	529	c.210C>A	c.(208-210)gcC>gcA	p.A70A	SCD5_ENST00000273908.4_Silent_p.A70A|SCD5_ENST00000282709.4_Silent_p.A70A	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	70					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGTGGCTTGGCTTTGGGGA	0.716000													9	8					0.000442599	0.000527043	0.006214	1	0
PRSS1	5644	broad.mit.edu	37	7	142457350	142457350	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142457350G>A	ENST00000486171.1	+	1	32	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRSS1_ENST00000311737.7_Silent_p.L5L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	5					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCCACTCCTGATCCTTACCT	0.567000													20	39					0	0	0.003954	0	0
MIIP	60672	broad.mit.edu	37	1	12082327	12082327	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:12082327C>T	ENST00000235332.4	+	3	459	c.290C>T	c.(289-291)cCt>cTt	p.P97L	MIIP_ENST00000436478.2_Missense_Mutation_p.P97L|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	97										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCTCTCCCACCTGCCAAATGC	0.697000													19	31					0	0	0.007413	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012189	160012189	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160012189G>T	ENST00000368089.3	-	2	360	c.134C>A	c.(133-135)gCc>gAc	p.A45D		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	45						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGCTTGTCGGCAATGTGCTC	0.557000													38	104					2.35958e-20	2.85415e-20	0.002222	1	0
APOB	338	broad.mit.edu	37	2	21230676	21230676	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:21230676C>T	ENST00000233242.1	-	26	9191	c.9064G>A	c.(9064-9066)Gat>Aat	p.D3022N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3022					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATGAGCATCATGCCTCCCA	0.438000													149	235					0	0	0.003610	0	0
EDEM2	55741	broad.mit.edu	37	20	33703686	33703686	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:33703686G>A	ENST00000374492.3	-	11	1392	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	EDEM2_ENST00000541621.1_Silent_p.F208F|EDEM2_ENST00000374491.2_Silent_p.F392F|EDEM2_ENST00000542871.1_Silent_p.F153F	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	429					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCTCGGCCAGGAAGAACGACT	0.517000													38	14					0	0	0.002222	0	0
DDX43	55510	broad.mit.edu	37	6	74117749	74117749	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:74117749C>T	ENST00000370336.4	+	9	1262	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	368	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GTGTAGATATCATAATTGCAA	0.328000													18	26					0	0	0.008871	0	0
DHX57	90957	broad.mit.edu	37	2	39050298	39050298	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:39050298A>G	ENST00000295373.6	-	17	3254	c.3128T>C	c.(3127-3129)tTa>tCa	p.L1043S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1043							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TAATGCTCCTAAGTCTCGTAA	0.453000													20	41					0	0	0.008871	0	0
UBR1	197131	broad.mit.edu	37	15	43244516	43244516	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:43244516G>A	ENST00000290650.4	-	45	5044	c.4966C>T	c.(4966-4968)Cac>Tac	p.H1656Y	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1656					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGAAGTGCGTGAAAAATGCAA	0.468000													44	69					0	0	0.003214	0	0
PMS2P3	5387	broad.mit.edu	37	7	75140349	75140349	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:75140349G>A	ENST00000418756.1	-	0	1278					NR_028059.1															lung(1)	1						GGGGGTAGGGGGTTTCCTGGA	0.498000													29	59					0	0	0.008361	0	0
CDCA7	83879	broad.mit.edu	37	2	174228142	174228142	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:174228142G>A	ENST00000306721.3	+	4	676	c.573G>A	c.(571-573)atG>atA	p.M191I	CDCA7_ENST00000410019.3_Missense_Mutation_p.M70I|CDCA7_ENST00000410101.3_Missense_Mutation_p.M147I|CDCA7_ENST00000347703.3_Missense_Mutation_p.M112I|CDCA7_ENST00000392567.2_Missense_Mutation_p.M112I	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	112					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAAGTGGAATGAATTTTTTGG	0.403000													22	22					0	0	0.002780	0	0
ACER1	125981	broad.mit.edu	37	19	6306862	6306862	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6306862C>T	ENST00000301452.4	-	6	735	c.658G>A	c.(658-660)Ggc>Agc	p.G220S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	220						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTGACCATGCCATAAGGGAAG	0.597000													6	13					0	0	0.001168	0	0
GABRA3	2556	broad.mit.edu	37	X	151424446	151424446	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151424446G>A	ENST00000370314.4	-	5	593	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GABRA3_ENST00000370311.1_Missense_Mutation_p.R119W|GABRA3_ENST00000535043.1_Missense_Mutation_p.R119W	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	119					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGTCTGCCGAAAAAATACA	0.423000													12	35					0	0	0.000978	0	0
THEMIS	387357	broad.mit.edu	37	6	128135035	128135035	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:128135035C>T	ENST00000368250.1	-	5	1012	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	THEMIS_ENST00000368248.2_Missense_Mutation_p.E251K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E216K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E251K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	251	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTGACTTCGACATCTAGA	0.348000													43	14					0	0	0.002522	0	0
ZNF599	148103	broad.mit.edu	37	19	35251315	35251315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:35251315G>A	ENST00000329285.7	-	4	764	c.391C>T	c.(391-393)Cag>Tag	p.Q131*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCCTTCCTGAATTTTTATT	0.453000													32	43					0	0	0.002836	0	0
TANC2	26115	broad.mit.edu	37	17	61498857	61498857	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:61498857C>T	ENST00000424789.2	+	25	5518	c.5514C>T	c.(5512-5514)acC>acT	p.T1838T	TANC2_ENST00000389520.4_Silent_p.T1848T|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1838							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGAGCCCACCCGATCCAGGA	0.547000													18	26					0	0	0.006122	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891565	18891565	+	Silent	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:18891565T>A	ENST00000317658.3	+	1	521	c.363T>A	c.(361-363)ctT>ctA	p.L121L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	121					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAGTTGTTCTTCTGTGCGCCT	0.383000													12	22					0	0	0.000978	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:11134266C>T	ENST00000358026.2	+	20	3216	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCTTGCTCCGACGACTCAA	0.572000			"""F, N, Mis"""		NSCLC								15	11					0	0	0.001523	0	0
SPG21	51324	broad.mit.edu	37	15	65262507	65262507	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65262507G>A	ENST00000559199.1	-	4	1044	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SPG21_ENST00000416889.2_Missense_Mutation_p.S142L|SPG21_ENST00000433215.2_Missense_Mutation_p.S169L|SPG21_ENST00000204566.2_Missense_Mutation_p.S169L			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	169					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGGGCCAGATGAAAAATTTCC	0.398000													72	144					0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368316	86368316	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:86368316C>T	ENST00000400286.2	-	2	2926	c.2328G>A	c.(2326-2328)agG>agA	p.R776R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	776						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAATGTTTTTCCTTAGGTATT	0.413000													34	35					0	0	0.003271	0	0
MYH1	4619	broad.mit.edu	37	17	10399641	10399641	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399641C>T	ENST00000226207.5	-	34	4976	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1628						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTCCATTTCATTGAGGTCT	0.498000													41	49					0	0	0.008740	0	0
GABRQ	55879	broad.mit.edu	37	X	151820005	151820005	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151820005C>T	ENST00000370306.2	+	8	938	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	306						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAATGCTCATCCTGACCA	0.468000													16	65					0	0	0.004007	0	0
PLG	5340	broad.mit.edu	37	6	161123346	161123346	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:161123346A>G	ENST00000308192.9	+	1	73	c.10A>G	c.(10-12)Aag>Gag	p.K4E	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.K4E	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	4					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATGGAACATAAGGAAGTGGT	0.363000													19	20					0	0	0.003755	0	0
ANK3	288	broad.mit.edu	37	10	61829310	61829310	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61829310C>T	ENST00000280772.1	-	37	11520	c.11329G>A	c.(11329-11331)Gaa>Aaa	p.E3777K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3777					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATGTTTTTCATGGGGCCTA	0.338000													37	47					0	0	0.003755	0	0
CCKBR	887	broad.mit.edu	37	11	6292458	6292458	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:6292458T>A	ENST00000525462.1	+	4	1239	c.1236T>A	c.(1234-1236)ttT>ttA	p.F412L	CCKBR_ENST00000334619.2_Missense_Mutation_p.F343L|CCKBR_ENST00000532715.1_Missense_Mutation_p.F259L			P32239	GASR_HUMAN	cholecystokinin B receptor	343					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTTTTTTTTCTGTGTTGGT	0.597000													22	10					0	0	0.001882	0	0
CPSF3	51692	broad.mit.edu	37	2	9607863	9607863	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:9607863T>C	ENST00000460593.1	+	16	2841	c.1703T>C	c.(1702-1704)tTa>tCa	p.L568S	CPSF3_ENST00000238112.3_Missense_Mutation_p.L605S|CPSF3_ENST00000489403.1_3'UTR			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	605					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTAAAAAATTAGAAATGCAC	0.388000													17	28					0	0	0.007413	0	0
GRPR	2925	broad.mit.edu	37	X	16170386	16170386	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:16170386C>T	ENST00000380289.2	+	3	1171	c.773C>T	c.(772-774)tCc>tTc	p.S258F		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	258					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TAGATTGAATCCCGGAAGCGA	0.502000													21	55					0	0	0.001882	0	0
ATP1A3	478	broad.mit.edu	37	19	42492526	42492526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42492526C>T	ENST00000545399.1	-	3	289	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E3K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E44K|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E33K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	33					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTTGTGCTCTGTCTGAGGA	0.602000													58	96					0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304830	67304830	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67304830C>T	ENST00000299798.11	+	16	2473	c.2408C>T	c.(2407-2409)tCc>tTc	p.S803F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	803					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGCCTAGCGTCCCCTCCCTGT	0.607000													13	29					0	0	0.004007	0	0
RIOK3	8780	broad.mit.edu	37	18	21044211	21044211	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:21044211G>A	ENST00000339486.3	+	4	984	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	RIOK3_ENST00000577501.1_Missense_Mutation_p.E123K|RIOK3_ENST00000581585.1_Missense_Mutation_p.E107K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	123					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCATCCTTATGAAGACAGCGA	0.398000													6	17					0	0	0.001984	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954519	79954519	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:79954519C>T	ENST00000306729.7	+	7	827	c.730C>T	c.(730-732)Cct>Tct	p.P244S	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.P244S|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P167S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	244							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCCTTTGTTCCTTTCTCGGG	0.652000			T	TFE3	alveolar soft part sarcoma								20	12					0	0	0.001523	0	0
CNN2	1265	broad.mit.edu	37	19	1032430	1032430	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1032430C>T	ENST00000263097.4	+	3	588	c.225C>T	c.(223-225)atC>atT	p.I75I	CNN2_ENST00000565096.2_Silent_p.I75I|CNN2_ENST00000562958.2_Silent_p.I75I|CNN2_ENST00000348419.3_Silent_p.I75I|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	75	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TCCCCAAGATCAACCGCTCCA	0.622000													23	49					0	0	0.002780	0	0
ANXA9	8416	broad.mit.edu	37	1	150956527	150956527	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150956527C>T	ENST00000368947.4	+	5	725	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	83					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACGAAACTTCCAGGAGCGCA	0.607000													7	24					0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:55955863G>A	ENST00000263923.4	-	24	3594	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			28	78					0	0	0.007291	0	0
CCDC61	729440	broad.mit.edu	37	19	46498687	46498687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:46498687G>A	ENST00000263284.2	+	2	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AATCAGAAGCGAGAACGCCGG	0.607000													9	15					0	0	0.002450	0	0
LAMA2	3908	broad.mit.edu	37	6	129712665	129712665	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:129712665G>A	ENST00000421865.2	+	36	5150	c.5101G>A	c.(5101-5103)Gaa>Aaa	p.E1701K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1701	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAACTAAATGAAACTCTAGG	0.363000													26	21					0	0	0.004656	0	0
STAU1	6780	broad.mit.edu	37	20	47733721	47733721	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:47733721G>A	ENST00000371828.3	-	12	1836	c.1349C>T	c.(1348-1350)tCt>tTt	p.S450F	STAU1_ENST00000371856.2_Missense_Mutation_p.S525F|STAU1_ENST00000371792.1_Missense_Mutation_p.S442F|STAU1_ENST00000347458.5_Missense_Mutation_p.S444F|STAU1_ENST00000340954.7_Missense_Mutation_p.S444F|STAU1_ENST00000371802.1_Missense_Mutation_p.S450F|STAU1_ENST00000360426.4_Missense_Mutation_p.S444F	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	525						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGTGGCTGAGAGGAGCAATT	0.473000													41	16					0	0	0.002222	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801487	160801487	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:160801487C>T	ENST00000283243.7	-	28	4280	c.4074G>A	c.(4072-4074)agG>agA	p.R1358R	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1358	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCAGGGATCCTCAAGGCAA	0.448000													22	46					0	0	0.001882	0	0
CLSPN	63967	broad.mit.edu	37	1	36214053	36214053	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:36214053G>A	ENST00000251195.5	-	13	2521	c.2425C>T	c.(2425-2427)Cct>Tct	p.P809S	CLSPN_ENST00000373220.3_Missense_Mutation_p.P745S|CLSPN_ENST00000520551.1_Missense_Mutation_p.P756S|CLSPN_ENST00000318121.3_Missense_Mutation_p.P809S			Q9HAW4	CLSPN_HUMAN	claspin	809					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGGGGAAGGAGATCTGAAT	0.488000													24	56					0	0	0.005443	0	0
FAM83C	128876	broad.mit.edu	37	20	33875396	33875396	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:33875396G>A	ENST00000374408.3	-	4	1282	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	396										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACAGTTGGCGATGTAGGGAG	0.642000													6	33					0	0	0.001168	0	0
AZGP1	563	broad.mit.edu	37	7	99565809	99565809	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99565809C>T	ENST00000411734.1	-	3	578	c.573G>A	c.(571-573)ctG>ctA	p.L191L	AZGP1_ENST00000292401.4_Silent_p.L194L			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	194					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547000													17	27					0	0	0.006122	0	0
STAG1	10274	broad.mit.edu	37	3	136139954	136139954	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:136139954G>A	ENST00000383202.2	-	20	2345	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	STAG1_ENST00000236698.5_Missense_Mutation_p.R697W|STAG1_ENST00000536929.1_Missense_Mutation_p.R281W|STAG1_ENST00000434713.2_Missense_Mutation_p.R471W	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	697					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GAAGTTAACCGCTTTAATGTA	0.378000													12	68					0	0	0.001855	0	0
SOGA2	23255	broad.mit.edu	37	18	8825200	8825200	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:8825200C>T	ENST00000359865.3	+	15	3834	c.3692C>T	c.(3691-3693)cCa>cTa	p.P1231L	SOGA2_ENST00000306285.7_Missense_Mutation_p.P556L|SOGA2_ENST00000400050.3_Missense_Mutation_p.P1190L|SOGA2_ENST00000518815.1_Missense_Mutation_p.P556L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1190L|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1550L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1541																	GGAGGCCCTCCAGAACCCATG	0.677000													10	2					0	0	0.006214	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871590	51871590	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:51871590C>T	ENST00000371497.5	+	2	2480	c.1593C>T	c.(1591-1593)gcC>gcT	p.A531A	TSHZ2_ENST00000329613.6_Silent_p.A528A|TSHZ2_ENST00000603338.2_Silent_p.A528A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	531					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCAACAAAGCCCAAAACGGGG	0.542000													8	52					0	0	0.004482	0	0
FCN1	2219	broad.mit.edu	37	9	137805459	137805459	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:137805459C>T	ENST00000371806.3	-	5	399	c.307_splice	c.e5-1	p.G103_splice		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	103					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCAGCGTCTCCTGTGTGGGG	0.582000													15	2					0	0	0.006122	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630442	51630442	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:51630442C>T	ENST00000440804.3	+	4	971	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.P302S	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	302	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCCCTCAAACCCGGGGGTGCT	0.622000													30	42					0	0	0.007291	0	0
HDAC5	10014	broad.mit.edu	37	17	42155881	42155881	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42155881C>T	ENST00000225983.6	-	26	3642	c.3319G>A	c.(3319-3321)Gaa>Aaa	p.E1107K	HDAC5_ENST00000393622.2_Missense_Mutation_p.E1106K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E1021K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E1106K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1106					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGGCTGTGTTCCCGGGCTGCC	0.697000													20	32					0	0	0.001882	0	0
CCDC108	255101	broad.mit.edu	37	2	219870228	219870228	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219870228G>T	ENST00000341552.5	-	32	5062	c.4979C>A	c.(4978-4980)tCc>tAc	p.S1660Y	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1660Y|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1660Y	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1660						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTAGGGGATTTTTCCTC	0.547000													18	26					1.96292e-10	2.35432e-10	0.001523	1	0
SORL1	6653	broad.mit.edu	37	11	121348870	121348870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:121348870C>T	ENST00000260197.7	+	3	575	c.446C>T	c.(445-447)tCa>tTa	p.S149L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	149					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGAAAATTTCAGACAAGTTA	0.438000													16	6					0	0	0.003163	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501662	140501662	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140501662G>A	ENST00000194152.1	+	1	82	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		28					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTCGCCTCGAGCCTATTCG	0.517000													17	34					0	0	0.007413	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216051	20216051	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20216051C>T	ENST00000331723.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGGTTTTATCCACTCTATCA	0.498000													9	19					0	0	0.004482	0	0
CD209	30835	broad.mit.edu	37	19	7808068	7808068	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:7808068C>T	ENST00000315599.7	-	7	1094	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	CD209_ENST00000602261.1_Missense_Mutation_p.E266K|CD209_ENST00000204801.8_Missense_Mutation_p.E314K|CD209_ENST00000315591.8_Missense_Mutation_p.E334K|CD209_ENST00000593821.1_Missense_Mutation_p.E222K|CD209_ENST00000601951.1_Missense_Mutation_p.E334K|CD209_ENST00000601256.1_Missense_Mutation_p.G296E|CD209_ENST00000394173.4_Missense_Mutation_p.E197K|CD209_ENST00000593660.1_Missense_Mutation_p.E288K|CD209_ENST00000354397.6_Missense_Mutation_p.E352K|CD209_ENST00000394161.5_Missense_Mutation_p.E122K|CD209_ENST00000301357.8_Missense_Mutation_p.E222K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	358	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTAAATTCCGCGCAGTCT	0.527000													87	134					0	0	0.003610	0	0
ZNF337	26152	broad.mit.edu	37	20	25656124	25656124	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:25656124G>A	ENST00000376436.1	-	4	2339	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F600F|ZNF337_ENST00000538750.1_Silent_p.F568F|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTACAGATGAAAGGCTTCT	0.478000													14	83					0	0	0.003163	0	0
CFAP54	144535	broad.mit.edu	37	12	97136343	97136343	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:97136343C>T	ENST00000524981.3	+	19	2551	c.2551C>T	c.(2551-2553)Cat>Tat	p.H851Y				Q6ZTY8	CL063_HUMAN		825										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCACAGATTCATGGCATTGG	0.348000													4	4					0	0	0.000248	0	0
L1CAM	3897	broad.mit.edu	37	X	153137769	153137769	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153137769C>G	ENST00000370060.1	-	5	427	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.E80Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E82Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E80Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E82Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E75Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E75Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	80	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCTCTTCCTTGGGTTTG	0.607000													5	23					0	0	0.001168	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736123	140736123	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736123C>T	ENST00000571252.1	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCACTTTCCCTCATGCTT	0.483000													24	49					0	0	0.005443	0	0
ZNF365	22891	broad.mit.edu	37	10	64159341	64159341	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:64159341C>T	ENST00000395254.3	+	5	1297	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGCCCATTTCCACCCAAAGG	0.557000													26	64					0	0	0.003954	0	0
TBR1	10716	broad.mit.edu	37	2	162274197	162274197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:162274197C>T	ENST00000389554.3	+	2	1020	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCGCATGTTTCCTTTTTTAAG	0.403000													22	50					0	0	0.004656	0	0
TRPC4	7223	broad.mit.edu	37	13	38266368	38266368	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:38266368G>A	ENST00000379705.3	-	4	1859	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	TRPC4_ENST00000379681.3_Silent_p.F334F|TRPC4_ENST00000447043.1_Silent_p.F334F|TRPC4_ENST00000426868.2_Silent_p.F334F|TRPC4_ENST00000355779.2_Silent_p.F334F|TRPC4_ENST00000338947.5_Silent_p.F161F|TRPC4_ENST00000379679.1_Silent_p.F161F|TRPC4_ENST00000358477.2_Silent_p.F334F|TRPC4_ENST00000379673.2_Silent_p.F334F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	334					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTCCTATTATGAAACATGTCA	0.473000													7	31					0	0	0.003080	0	0
ANPEP	290	broad.mit.edu	37	15	90347601	90347601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:90347601C>T	ENST00000300060.6	-	6	1375	c.1062G>A	c.(1060-1062)atG>atA	p.M354I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	354	Metalloprotease.|Substrate binding (By similarity).				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCCAGTTCTCCATGGCGCCGG	0.622000													25	22					0	0	0.003330	0	0
XIRP1	165904	broad.mit.edu	37	3	39228619	39228619	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:39228619C>T	ENST00000340369.3	-	2	2546	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	XIRP1_ENST00000396251.1_Missense_Mutation_p.G773E|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	773							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCGCAGGGTCCCCTCAGCTGC	0.627000													20	16					0	0	0.002299	0	0
MROH2B	133558	broad.mit.edu	37	5	41058251	41058251	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:41058251C>T	ENST00000399564.4	-	7	1120	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CGGAAGTCTTCCCGATGCAGC	0.512000													8	14					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141796187	141796187	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141796187C>T	ENST00000475668.2	+	65	7718	c.7664C>T	c.(7663-7665)gCc>gTc	p.A2555V	MGAM_ENST00000549489.2_Missense_Mutation_p.A1659V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1659					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGGCCCAGCCTTCCTGGTC	0.587000													9	28					0	0	0.004482	0	0
DDX17	10521	broad.mit.edu	37	22	38891816	38891816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38891816G>A	ENST00000396821.3	-	6	964	c.865C>T	c.(865-867)Cga>Tga	p.R289*	DDX17_ENST00000381633.3_Nonsense_Mutation_p.R210*|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	210	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCCAAGTCTCGAATCTGGGGA	0.398000													38	40					0	0	0.004878	0	0
STAC3	246329	broad.mit.edu	37	12	57642489	57642489	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:57642489G>A	ENST00000332782.2	-	4	633	c.432_splice	c.e4+1	p.I144_splice	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site_p.I105_splice	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	144					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCCTACTCACGATCTTGCCGA	0.537000													141	150					0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106118351	106118351	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:106118351G>A	ENST00000369704.3	+	2	396	c.262G>A	c.(262-264)Gat>Aat	p.D88N	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	88										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTCTCAGGATGATCAGACCAC	0.423000													5	11					0	0	0.001168	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58009056	58009056	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:58009056C>T	ENST00000225577.4	+	7	682	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P168S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P198S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P221S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	221	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGACCTGAAGCCGGAGAATAT	0.383000													19	24					0	0	0.001523	0	0
ABCA5	23461	broad.mit.edu	37	17	67247926	67247926	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:67247926G>A	ENST00000392676.3	-	35	4561	c.4497C>T	c.(4495-4497)gtC>gtT	p.V1499V	ABCA5_ENST00000392677.2_Silent_p.V1500V|ABCA5_ENST00000588877.1_Silent_p.V1499V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1499	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTCGATCACAGACAGCCTCTG	0.438000													25	23					0	0	0.007291	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373908	86373908	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:86373908C>A	ENST00000604798.1	-	8	1800	c.596G>T	c.(595-597)cGt>cTt	p.R199L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338000													29	41					1.77063e-15	2.13268e-15	0.005443	1	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:183756374G>A	ENST00000382489.3	+	7	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E|HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000													4	14					0	0	0.000248	0	0
TAGAP	117289	broad.mit.edu	37	6	159457649	159457649	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:159457649G>A	ENST00000367066.3	-	10	1737	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.S291F	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	469					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGAGCTGTCAGAGGACGCGTC	0.577000													43	25					0	0	0.002222	0	0
ANK3	288	broad.mit.edu	37	10	61819111	61819111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61819111G>A	ENST00000280772.1	-	41	12864	c.12673C>T	c.(12673-12675)Cga>Tga	p.R4225*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1716*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1709*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R849*|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4225					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCCAGTCGATCTAGTAAC	0.398000													18	76					0	0	0.007413	0	0
SHOX	6473	broad.mit.edu	37	X	591781	591781	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:591781G>A	ENST00000381578.1	+	2	840	c.149G>A	c.(148-150)gGg>gAg	p.G50E	SHOX_ENST00000334060.3_Missense_Mutation_p.G50E|SHOX_ENST00000381575.1_Missense_Mutation_p.G50E|SHOX_ENST00000554971.1_Missense_Mutation_p.G50E	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	50					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGAGCTGGGGACGTCGGAT	0.607000													40	60					0	0	0.006999	0	0
ABCA12	26154	broad.mit.edu	37	2	215818596	215818596	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:215818596G>A	ENST00000272895.7	-	44	6848	c.6629C>T	c.(6628-6630)tCc>tTc	p.S2210F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1892F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2210					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)		CTTTATCAGGGATTCGTTGAT	0.353000													8	12					0	0	0.004482	0	0
MUC6	4588	broad.mit.edu	37	11	1017124	1017124	+	Missense_Mutation	SNP	G	G	C	rs71472140		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:1017124G>C	ENST00000421673.2	-	31	5727	c.5677C>G	c.(5677-5679)Cca>Gca	p.P1893A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1893	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCATTGGTGGGGCTGTGTGG	0.562000													21	514					0	0	0.003610	0	0
ERN1	2081	broad.mit.edu	37	17	62137897	62137897	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62137897G>A	ENST00000433197.2	-	11	1233	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	380					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGATTGTTGGGAAATCTCTCC	0.468000													29	51					0	0	0.002096	0	0
GCM2	9247	broad.mit.edu	37	6	10874455	10874455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:10874455G>A	ENST00000379491.4	-	5	1441	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	432					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTCACCGGAGGACCCCAGGGT	0.537000													11	27					0	0	0.000978	0	0
MORC1	27136	broad.mit.edu	37	3	108773680	108773680	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:108773680C>T	ENST00000232603.5	-	14	1307	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	MORC1_ENST00000483760.1_Missense_Mutation_p.E409K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	409					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGGATGGTTCCATGACCTCC	0.373000													33	27					0	0	0.002836	0	0
MEPE	56955	broad.mit.edu	37	4	88766960	88766960	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:88766960G>A	ENST00000497649.2	+	6	1246	c.868G>A	c.(868-870)Gga>Aga	p.G290R	MEPE_ENST00000540395.1_Missense_Mutation_p.G201R|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.G201R|MEPE_ENST00000361056.3_Missense_Mutation_p.G314R|MEPE_ENST00000424957.3_Missense_Mutation_p.G314R|MEPE_ENST00000395102.4_Missense_Mutation_p.G345R			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	314					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAATGGTGGAAATACCAT	0.438000													12	35					0	0	0.001368	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719037	50719037	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50719037G>A	ENST00000449103.1	-	25	4196	c.4056C>T	c.(4054-4056)tcC>tcT	p.S1352S	PLXNB2_ENST00000359337.4_Silent_p.S1352S			O15031	PLXB2_HUMAN	plexin B2	1352					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)		CCGTCAGCAGGGACGCGAAGT	0.642000													22	40					0	0	0.002299	0	0
NCOR1	9611	broad.mit.edu	37	17	15965136	15965136	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:15965136G>A	ENST00000268712.3	-	37	5717	c.5460C>T	c.(5458-5460)gcC>gcT	p.A1820A	NCOR1_ENST00000395851.1_Silent_p.A1836A|NCOR1_ENST00000395857.3_Silent_p.A404A	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1820	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCAGCCAGGGCATCCGCAG	0.517000													16	27					0	0	0.004990	0	0
CNTN2	6900	broad.mit.edu	37	1	205027463	205027463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:205027463G>A	ENST00000331830.4	+	4	654	c.370G>A	c.(370-372)Gag>Aag	p.E124K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	124	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGTCAGCAGGGAGGCCATCCT	0.627000													10	35					0	0	0.008291	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050787	196050787	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:196050787G>A	ENST00000446879.1	-	5	652	c.527C>T	c.(526-528)tCt>tTt	p.S176F	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000273695.3_Silent_p.F177F|TM4SF19_ENST00000454715.1_Silent_p.F151F			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAGGGCGGAGAAGAGGGACA	0.547000													21	18					0	0	0.001882	0	0
ZFP64	55734	broad.mit.edu	37	20	50701121	50701121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:50701121G>A	ENST00000361387.2	-	9	1973	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	ZFP64_ENST00000371523.4_Missense_Mutation_p.P419L|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCTCTAGGGGAGCCTCGAG	0.622000													9	34					0	0	0.006214	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185606756	185606756	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:185606756C>T	ENST00000314970.6	+	11	1646	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CCDC111_ENST00000503752.1_Missense_Mutation_p.P405S|CCDC111_ENST00000515774.1_Missense_Mutation_p.P276S|CCDC111_ENST00000512834.1_Missense_Mutation_p.P404S	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		405					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CTACTTTTTCCCAGAAGAATT	0.299000													19	31					0	0	0.002780	0	0
NES	10763	broad.mit.edu	37	1	156640515	156640515	+	Silent	SNP	G	G	A	rs143618500		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156640515G>A	ENST00000368223.3	-	4	3597	c.3465C>T	c.(3463-3465)tcC>tcT	p.S1155S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1155	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGCAGCTCGGAGAACTCTG	0.632000													20	44					0	0	0.008871	0	0
ZNF81	347344	broad.mit.edu	37	X	47774409	47774409	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47774409G>A	ENST00000376954.1	+	6	732	c.364G>A	c.(364-366)Gat>Aat	p.D122N	ZNF81_ENST00000338637.7_Missense_Mutation_p.D122N			P51508	ZNF81_HUMAN	zinc finger protein 81	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGACACAAGAGATGATTCATT	0.363000													7	15					0	0	0.001984	0	0
SYK	6850	broad.mit.edu	37	9	93626931	93626931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:93626931C>T	ENST00000375754.4	+	5	926	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	SYK_ENST00000375746.1_Nonsense_Mutation_p.Q260*|SYK_ENST00000375751.4_Nonsense_Mutation_p.Q260*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q260*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	260	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGTCCCATGTCAAAAAATCGG	0.398000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								18	18					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196822128	196822128	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196822128C>T	ENST00000312428.6	-	19	3035	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	979	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAGCCATTCATCCAGAATC	0.478000													15	20					0	0	0.004007	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518850	106518850	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106518850C>T	ENST00000390598.2	-	0	82																											AGCCCCAATTCCATGGTGAGT	0.498000													42	37					0	0	0.003610	0	0
RNFT2	84900	broad.mit.edu	37	12	117178899	117178899	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:117178899G>A	ENST00000257575.4	+	3	316	c.83_splice	c.e3+1	p.R28_splice	RNFT2_ENST00000392549.2_Splice_Site_p.R28_splice|RNFT2_ENST00000407967.3_Splice_Site_p.R28_splice|RNFT2_ENST00000319176.7_Splice_Site_p.R28_splice			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	28						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CCACCTGAAAGGTAGGCATCC	0.522000													4	4					0	0	0.000248	0	0
OR4K13	390433	broad.mit.edu	37	14	20502829	20502829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20502829C>T	ENST00000315693.2	-	1	90	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CACAGAGAATCCCAAGAAGAA	0.398000													11	8					0	0	0.000978	0	0
PDK4	5166	broad.mit.edu	37	7	95224396	95224396	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:95224396C>T	ENST00000005178.5	-	2	408	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	71					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATATCAATTTCCTTCAGAATG	0.363000													16	41					0	0	0.004990	0	0
CHODL	140578	broad.mit.edu	37	21	19629303	19629303	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:19629303G>A	ENST00000299295.2	+	3	797	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	CHODL_ENST00000400128.1_Missense_Mutation_p.E95K|CHODL_ENST00000400127.1_Missense_Mutation_p.E95K|CHODL_ENST00000543733.1_Missense_Mutation_p.E117K|CHODL_ENST00000338326.3_Missense_Mutation_p.E95K|CHODL_ENST00000400135.1_Missense_Mutation_p.E95K|CHODL_ENST00000400131.1_Missense_Mutation_p.E95K	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	136	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.E136*(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GTACACAGATGAACCTTCCTG	0.463000													5	34					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13876829	13876829	+	Silent	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13876829A>T	ENST00000265104.4	-	22	3464	c.3360T>A	c.(3358-3360)gtT>gtA	p.V1120V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1120	Stem (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)					TAAGCACAGAAACTAATTTTA	0.383000									Kartagener syndrome				11	26					0	0	0.008291	0	0
HTR7	3363	broad.mit.edu	37	10	92503376	92503376	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:92503376G>A	ENST00000336152.3	-	3	1393	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	HTR7_ENST00000371721.3_Intron|HTR7_ENST00000277874.6_Intron|HTR7_ENST00000371719.2_Intron	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	456					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATGGTCTGGAGATTGTAGCAC	0.488000													15	33					0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152187683	152187683	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152187683C>T	ENST00000368801.2	-	3	6497	c.6422G>A	c.(6421-6423)gGa>gAa	p.G2141E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2141					keratinization		calcium ion binding|protein binding	p.G2141E(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGTCCTGATCTAGA	0.587000													32	911					0	0	0.002445	0	0
COL6A2	1292	broad.mit.edu	37	21	47532471	47532471	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:47532471A>G	ENST00000300527.4	+	3	798	c.694A>G	c.(694-696)Aac>Gac	p.N232D	COL6A2_ENST00000310645.5_Missense_Mutation_p.N232D|COL6A2_ENST00000357838.4_Missense_Mutation_p.N232D|COL6A2_ENST00000397763.1_Missense_Mutation_p.N232D|COL6A2_ENST00000409416.1_Missense_Mutation_p.N232D|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	232	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGACACCATCAACCGCATCAT	0.682000													4	14					0	0	0.000248	0	0
FCN3	8547	broad.mit.edu	37	1	27697379	27697379	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:27697379C>T	ENST00000270879.4	-	6	483	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	FCN3_ENST00000354982.2_Missense_Mutation_p.E149K	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	160	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCAGAATTCAGACTCTTGG	0.557000													11	26					0	0	0.000978	0	0
FHOD3	80206	broad.mit.edu	37	18	34298434	34298434	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:34298434C>T	ENST00000257209.4	+	16	2770	c.2648C>T	c.(2647-2649)cCt>cTt	p.P883L	FHOD3_ENST00000445677.1_Missense_Mutation_p.P845L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Missense_Mutation_p.P866L|FHOD3_ENST00000590592.1_Missense_Mutation_p.P1058L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	866	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTTCCTCCTCCTCCAGTGTTC	0.577000													24	15					0	0	0.002780	0	0
EPHA7	2045	broad.mit.edu	37	6	94120739	94120739	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:94120739G>A	ENST00000369303.4	-	3	496	c.312C>T	c.(310-312)ttC>ttT	p.F104F	EPHA7_ENST00000369297.1_Silent_p.F104F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	104						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCCTCAGGGTGAATTTCAATT	0.423000													25	31					0	0	0.003330	0	0
ZEB1	6935	broad.mit.edu	37	10	31809203	31809203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:31809203C>T	ENST00000446923.2	+	7	1283	c.892C>T	c.(892-894)Ccg>Tcg	p.P298S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P315S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P294S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P247S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P314S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	314					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTTCTTCACCGTCTCTTTC	0.438000													23	18					0	0	0.003330	0	0
OGDHL	55753	broad.mit.edu	37	10	50946014	50946014	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:50946014G>A	ENST00000374103.4	-	19	2581	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	OGDHL_ENST00000419399.1_Silent_p.I775I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.I623I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	832					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGGCAGCAGGATCTGCCGGC	0.642000													14	77					0	0	0.006122	0	0
FAM173A	65990	broad.mit.edu	37	16	772508	772508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:772508G>A	ENST00000569529.1	+	5	959	c.659G>A	c.(658-660)gGa>gAa	p.G220E	FAM173A_ENST00000564000.1_3'UTR|FAM173A_ENST00000219535.3_Missense_Mutation_p.G203E	NM_023933.1	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	220						integral to membrane				pancreas(1)	1						GCTGCCCCCGGACCTAGTTCT	0.587000													12	10					0	0	0.001855	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800768	26800768	+	Silent	SNP	C	C	T	rs149483004	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:26800768C>T	ENST00000376236.4	+	7	1079	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	208	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACAACCTTTTCGAGAAAACTC	0.483000													22	30					0	0	0.003330	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619653	46619653	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:46619653T>C	ENST00000282007.3	-	2	62		c.e2-2		ZC3H13_ENST00000242848.4_Intron	NM_015070.3	NP_055885.3	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTGTACTACTTCAACCAAAA	0.353000													24	63					0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110466975	110466975	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110466975C>A	ENST00000378402.5	+	45	6872	c.6768C>A	c.(6766-6768)ttC>ttA	p.F2256L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2256	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATCCCCATTCCAACACAAGG	0.458000										HNSCC(38;0.096)			10	46					1.05317e-09	1.26165e-09	0.002450	1	0
NCKAP5	344148	broad.mit.edu	37	2	133531389	133531389	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:133531389C>T	ENST00000409261.1	-	16	5501	c.5128_splice	c.e16+1	p.E1710_splice	NCKAP5_ENST00000317721.6_Splice_Site_p.E1710_splice|NCKAP5_ENST00000409213.1_Splice_Site_p.E391_splice|NCKAP5_ENST00000405974.3_Splice_Site_p.E391_splice|NCKAP5_ENST00000473859.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1710							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATTTTTACCTATGATGTGG	0.368000													27	46					0	0	0.001786	0	0
TRPV6	55503	broad.mit.edu	37	7	142570162	142570162	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142570162C>T	ENST00000359396.3	-	14	2103	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	620					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TACTCCCGTCCGCAGATCCCG	0.627000													10	11					0	0	0.001368	0	0
TGFBI	7045	broad.mit.edu	37	5	135382121	135382121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:135382121G>A	ENST00000442011.2	+	4	557	c.396G>A	c.(394-396)atG>atA	p.M132I	TGFBI_ENST00000305126.8_Missense_Mutation_p.M132I|TGFBI_ENST00000504185.1_3'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	132	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGAGATGGAGGGGCCCG	0.622000													8	9					0	0	0.004482	0	0
TOX2	84969	broad.mit.edu	37	20	42682962	42682962	+	Silent	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:42682962A>C	ENST00000358131.5	+	5	910	c.702A>C	c.(700-702)tcA>tcC	p.S234S	TOX2_ENST00000435864.2_Silent_p.S103S|TOX2_ENST00000341197.3_Silent_p.S225S|TOX2_ENST00000423191.1_Silent_p.S183S|TOX2_ENST00000372999.1_Silent_p.S183S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGAGACCTTCAGCCGACCCAG	0.537000													7	3					0	0	0.006214	0	0
PLCE1	51196	broad.mit.edu	37	10	95791576	95791576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95791576C>T	ENST00000260766.3	+	2	1407	c.773C>T	c.(772-774)aCc>aTc	p.T258I	PLCE1_ENST00000371380.2_Missense_Mutation_p.T258I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	258					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATTGTGACACCTTGAATGAT	0.363000													11	16					0	0	0.008291	0	0
MCOLN2	255231	broad.mit.edu	37	1	85417942	85417942	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85417942T>A	ENST00000370608.3	-	6	798	c.731A>T	c.(730-732)tAt>tTt	p.Y244F	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.Y216F	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	244						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTGAAAGACATAACAGTCTGG	0.348000													14	17					0	0	0.002450	0	0
BZRAP1	9256	broad.mit.edu	37	17	56404969	56404969	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56404969C>T	ENST00000355701.3	-	1	1183	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E105K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E105K|BZRAP1-AS1_ENST00000579527.1_RNA	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	105						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTCCACTTCCTCATCCTCT	0.642000													14	30					0	0	0.004007	0	0
ZNF341	84905	broad.mit.edu	37	20	32328812	32328812	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:32328812C>T	ENST00000375200.1	+	2	501	c.136C>T	c.(136-138)Cca>Tca	p.P46S	ZNF341_ENST00000342427.2_Missense_Mutation_p.P46S			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCTATCCAGCCATTGGGTGA	0.572000													11	45					0	0	0.000978	0	0
SHISA2	387914	broad.mit.edu	37	13	26620776	26620776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:26620776C>T	ENST00000319420.3	-	2	818	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	255					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGCACAGAGTCGTGCTGCACC	0.567000													20	20					0	0	0.008871	0	0
ABCA3	21	broad.mit.edu	37	16	2342196	2342196	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:2342196G>A	ENST00000301732.5	-	19	3158	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	ABCA3_ENST00000382381.3_Silent_p.L762L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	820					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAATGCCCAGCTCTTTCTGC	0.483000													20	28					0	0	0.002780	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376125	8376125	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8376125G>A	ENST00000538603.1	-	6	910	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L118F	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	118							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AATATGTGGAGGAGAGCCTTC	0.567000													13	9					0	0	0.001855	0	0
MID1	4281	broad.mit.edu	37	X	10423070	10423070	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:10423070C>T	ENST00000317552.4	-	9	1895	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	MID1_ENST00000380780.1_Missense_Mutation_p.V499M|MID1_ENST00000380779.1_Missense_Mutation_p.V499M|MID1_ENST00000380782.2_Missense_Mutation_p.V499M|MID1_ENST00000380787.1_Missense_Mutation_p.V499M|MID1_ENST00000453318.2_Missense_Mutation_p.V499M|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.V499M	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	499	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATGGGACACCTTCAGTTTT	0.433000													14	34					0	0	0.003163	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471606	61471606	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:61471606C>T	ENST00000398019.2	+	8	1205	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SERPINB7_ENST00000336429.2_Silent_p.L294L|SERPINB7_ENST00000546027.1_Silent_p.L294L|SERPINB7_ENST00000540675.1_Silent_p.L277L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	294					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTGAGAGCCCTAGGGCTGAA	0.393000													12	20					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179650739	179650739	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179650739C>T	ENST00000589042.1	-	14	2430	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	TTN_ENST00000342175.6_Missense_Mutation_p.G690R|TTN_ENST00000591111.1_Missense_Mutation_p.G736R|TTN_ENST00000360870.5_Missense_Mutation_p.G736R|TTN_ENST00000342992.6_Missense_Mutation_p.G736R|TTN_ENST00000460472.2_Missense_Mutation_p.G690R|TTN_ENST00000359218.5_Missense_Mutation_p.G690R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	736							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)			TCCTTATATCCGTACTCCAAA	0.537000													17	29					0	0	0.004007	0	0
ISLR2	57611	broad.mit.edu	37	15	74425599	74425599	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:74425599C>G	ENST00000361742.3	+	4	1273	c.504C>G	c.(502-504)gaC>gaG	p.D168E	ISLR2_ENST00000565159.1_Missense_Mutation_p.D168E|ISLR2_ENST00000565540.1_Missense_Mutation_p.D168E|ISLR2_ENST00000453268.2_Missense_Mutation_p.D168E|ISLR2_ENST00000435464.1_Missense_Mutation_p.D168E|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.D168E|ISLR2_ENST00000419208.1_Missense_Mutation_p.D168E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	168					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCACCTTCGACGCGCTTAGCG	0.667000													31	41					0	0	0.002096	0	0
WRNIP1	56897	broad.mit.edu	37	6	2785494	2785494	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:2785494T>A	ENST00000380769.4	+	7	1547	c.1316T>A	c.(1315-1317)tTc>tAc	p.F439Y	WRNIP1_ENST00000380764.1_Missense_Mutation_p.F275Y|WRNIP1_ENST00000380773.4_Missense_Mutation_p.F659Y|WRNIP1_ENST00000380771.4_Missense_Mutation_p.F634Y			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	659					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGGTAGATTTCTTCAAGCAG	0.498000													28	43					0	0	0.005443	0	0
CACNA1D	776	broad.mit.edu	37	3	53757981	53757981	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:53757981G>A	ENST00000288139.3	+	15	2233	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	CACNA1D_ENST00000422281.2_Silent_p.R685R|CACNA1D_ENST00000350061.5_Silent_p.R685R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	685		Calcium ion selectivity and permeability (By similarity).			axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACCAAGCGGAGCACCTTTG	0.473000													30	17					0	0	0.003271	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:10921986C>T	ENST00000298232.7	-	17	1350	c.983G>A	c.(982-984)gGa>gAa	p.G328E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.G308E|TPTE_ENST00000361285.4_Missense_Mutation_p.G346E	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACCATAGTTCCTGTTCTATC	0.328000													5	37					0	0	0.001168	0	0
CDH4	1002	broad.mit.edu	37	20	60485517	60485517	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:60485517G>A	ENST00000360469.5	+	9	1316	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	CDH4_ENST00000543233.1_Missense_Mutation_p.V336I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	410	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGACCGTGGTCGCAAACCT	0.532000													7	26					0	0	0.004482	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:155509998G>A	ENST00000302053.3	-	3	389	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_ENST00000403106.3_Missense_Mutation_p.S104L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000													23	75					0	0	0.004656	0	0
ACSL4	2182	broad.mit.edu	37	X	108902616	108902616	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:108902616T>A	ENST00000340800.2	-	16	2449	c.1945A>T	c.(1945-1947)Ata>Tta	p.I649L	ACSL4_ENST00000469796.2_Missense_Mutation_p.I649L|ACSL4_ENST00000348502.6_Missense_Mutation_p.I608L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	649					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCTTTCAGTATTTCAGCTTCC	0.398000													51	17					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238247693	238247693	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:238247693G>A	ENST00000295550.4	-	39	8984	c.8532C>T	c.(8530-8532)ccC>ccT	p.P2844P	COL6A3_ENST00000409809.1_Silent_p.P2638P|COL6A3_ENST00000353578.4_Silent_p.P2638P|COL6A3_ENST00000472056.1_Silent_p.P2237P|COL6A3_ENST00000347401.3_Silent_p.P2643P|COL6A3_ENST00000346358.4_Silent_p.P2644P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2844	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTTCTTTGTGGGTTGGTCCC	0.388000													20	28					0	0	0.002780	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670582	101670582	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:101670582G>A	ENST00000409318.1	-	4	749	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TBC1D8_ENST00000376840.4_Silent_p.L192L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	192	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCCTTGCCCAGGAAGAAGGAG	0.592000													10	10					0	0	0.001368	0	0
NBEA	26960	broad.mit.edu	37	13	36223862	36223862	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:36223862T>C	ENST00000400445.3	+	51	8312	c.7778T>C	c.(7777-7779)tTt>tCt	p.F2593S	NBEA_ENST00000310336.4_Missense_Mutation_p.F2593S|NBEA_ENST00000379922.3_Missense_Mutation_p.F171S|NBEA_ENST00000540320.1_Missense_Mutation_p.F2593S|NBEA_ENST00000379939.2_Missense_Mutation_p.F2590S|NBEA_ENST00000537702.1_Missense_Mutation_p.F386S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2593						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGCTGAAGTTTCCTTCAAAT	0.488000													25	71					0	0	0.003954	0	0
RBM26	64062	broad.mit.edu	37	13	79916915	79916915	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:79916915C>T	ENST00000438737.2	-	17	2751	c.2311G>A	c.(2311-2313)Gca>Aca	p.A771T	RBM26_ENST00000438724.1_Missense_Mutation_p.A747T|RBM26_ENST00000267229.7_Missense_Mutation_p.A744T			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	771					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATTATTTCTGCTTTATCTTCA	0.303000													31	18					0	0	0.007291	0	0
MTFMT	123263	broad.mit.edu	37	15	65295427	65295427	+	Silent	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65295427A>C	ENST00000220058.4	-	9	1156	c.1143T>G	c.(1141-1143)acT>acG	p.T381T		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	381						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GCATAGCAACAGTTTTTTTCT	0.343000													8	9					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179443621	179443621	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179443621C>T	ENST00000589042.1	-	320	68360	c.68136G>A	c.(68134-68136)atG>atA	p.M22712I	TTN_ENST00000342175.6_Missense_Mutation_p.M13839I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M21071I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M20144I|TTN_ENST00000460472.2_Missense_Mutation_p.M13647I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M13772I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21071	Fibronectin type-III 65.						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)			AGGTATATTCCATGCCCTCAT	0.463000													22	58					0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196825422	196825422	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196825422G>A	ENST00000312428.6	-	18	2553	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	818	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P818L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATGCATATGGAGAATCATG	0.393000													33	52					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179452456	179452456	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179452456G>A	ENST00000589042.1	-	306	63804	c.63580C>T	c.(63580-63582)Ctc>Ttc	p.L21194F	TTN_ENST00000342175.6_Missense_Mutation_p.L12321F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L19553F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L18626F|TTN_ENST00000460472.2_Missense_Mutation_p.L12129F|TTN_ENST00000359218.5_Missense_Mutation_p.L12254F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19553	Fibronectin type-III 53.						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)			ATAGCAAAGAGACGAATAGGG	0.448000													14	15					0	0	0.001855	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474488	84474488	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:84474488A>T	ENST00000416219.2	+	14	1324	c.1235A>T	c.(1234-1236)cAa>cTa	p.Q412L	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.Q412L			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	412					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TATGACGGTCAAGGGACTGTG	0.507000													9	26					0	0	0.006214	0	0
PGK2	5232	broad.mit.edu	37	6	49754169	49754169	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49754169G>A	ENST00000304801.3	-	1	884	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	244					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)					GTACCTTAAGGAAGGTATAAG	0.418000													33	42					0	0	0.003755	0	0
LILRB5	10990	broad.mit.edu	37	19	54754776	54754776	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54754776G>A	ENST00000450632.1	-	13	1936	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	LILRB5_ENST00000316219.5_Silent_p.P549P|LILRB5_ENST00000449561.2_Silent_p.P550P|LILRB5_ENST00000345866.6_Silent_p.P450P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	0					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACATCCTGGGGGGCTTCAG	0.632000													26	25					0	0	0.007291	0	0
CCDC19	25790	broad.mit.edu	37	1	159858257	159858257	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159858257G>A	ENST00000426543.2	-	4	502	c.47C>T	c.(46-48)tCc>tTc	p.S16F	CCDC19_ENST00000368099.4_Missense_Mutation_p.S101F|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	101						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GATGATTAGGGACTCCCCGGA	0.537000													12	50					0	0	0.001368	0	0
AKAP3	10566	broad.mit.edu	37	12	4737030	4737030	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:4737030C>T	ENST00000545990.2	-	5	1562	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	AKAP3_ENST00000228850.1_Silent_p.G346G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	346					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATGAGGGTCCCTGTGACGC	0.493000													10	24					0	0	0.008291	0	0
MECOM	2122	broad.mit.edu	37	3	168834378	168834378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:168834378C>T	ENST00000464456.1	-	7	1918	c.718G>A	c.(718-720)Gag>Aag	p.E240K	MECOM_ENST00000494292.1_Missense_Mutation_p.E428K|MECOM_ENST00000433243.2_Missense_Mutation_p.E241K|MECOM_ENST00000472280.1_Missense_Mutation_p.E241K|MECOM_ENST00000460814.1_Missense_Mutation_p.E240K|MECOM_ENST00000468789.1_Missense_Mutation_p.E240K|MECOM_ENST00000392736.3_Missense_Mutation_p.E240K|MECOM_ENST00000264674.3_Missense_Mutation_p.E305K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCTTGCCCTCACAAAACCTC	0.443000													7	56					0	0	0.001984	0	0
MYO7B	4648	broad.mit.edu	37	2	128354112	128354112	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:128354112C>T	ENST00000389524.4	+	19	2373	c.2320C>T	c.(2320-2322)Ctt>Ttt	p.L774F	MYO7B_ENST00000428314.1_Missense_Mutation_p.L774F|MYO7B_ENST00000409816.2_Missense_Mutation_p.L774F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	774	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGAAAGTCCTTCGGGGCTA	0.617000													7	7					0	0	0.003080	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53761937G>A	ENST00000341702.3	+	1	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	103					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAATCCTGGGGAATTTTTCAC	0.438000													4	11					0	0	0.000248	0	0
PTPN14	5784	broad.mit.edu	37	1	214537893	214537893	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:214537893G>A	ENST00000366956.5	-	18	3591	c.3397C>T	c.(3397-3399)Ctt>Ttt	p.L1133F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1133	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCAGAAAGAATGAGCACG	0.567000													13	37					0	0	0.001368	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407826	105407826	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:105407826T>C	ENST00000333244.5	-	7	14081	c.13962A>G	c.(13960-13962)ggA>ggG	p.G4654G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4654						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGTAACATTTCCTTCGATTT	0.428000													18	19					0	0	0.006122	0	0
IGHA1	3493	broad.mit.edu	37	14	106173485	106173485	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:106173485G>A	ENST00000390547.2	-	0	1081																											TTTATTCAGGGGTGGGGACAG	0.622000													4	25					0	0	0.003080	0	0
CNTN6	27255	broad.mit.edu	37	3	1444146	1444146	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:1444146G>A	ENST00000446702.2	+	22	3589	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K	CNTN6_ENST00000539053.1_Missense_Mutation_p.E916K|CNTN6_ENST00000350110.2_Missense_Mutation_p.E988K			Q9UQ52	CNTN6_HUMAN	contactin 6	988	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGCAGTGAGGAAATTAGGAT	0.398000													12	10					0	0	0.000978	0	0
NSUN5	55695	broad.mit.edu	37	7	72717596	72717596	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:72717596C>T	ENST00000438747.2	-	9	1363		c.e9+1		NSUN5_ENST00000310326.8_Splice_Site|NSUN5_ENST00000252594.6_Silent_p.R429R|NSUN5_ENST00000428206.1_Silent_p.R391R	NM_001168347.1|NM_018044.3|NM_148956.2	NP_001161819.1|NP_060514.1|NP_683759.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5								methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CACTCACTCACCTTGGCACCT	0.607000													14	26					0	0	0.006122	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804627	113804627	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:113804627C>T	ENST00000281273.4	+	10	1381	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V	QTRTD1_ENST00000485050.1_Missense_Mutation_p.A387V|QTRTD1_ENST00000493014.1_Missense_Mutation_p.A269V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.A252V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	375					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GAGCTGCTGGCCGGAGTCCTG	0.478000													13	56					0	0	0.001855	0	0
PAQR5	54852	broad.mit.edu	37	15	69672243	69672243	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:69672243C>T	ENST00000340965.3	+	4	741	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000561153.1_Silent_p.L25L|PAQR5_ENST00000395407.2_Silent_p.L25L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	25					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	p.L25V(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCAAGGCATCCTGTTCGGCTA	0.537000													60	108					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215818600	215818600	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:215818600C>T	ENST00000272895.7	-	44	6844	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1891K|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2209					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)		ATCAGGGATTCGTTGATTAAG	0.348000													8	12					0	0	0.004482	0	0
MVB12A	93343	broad.mit.edu	37	19	17534589	17534589	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:17534589C>T	ENST00000528515.1	+	5	548	c.494C>T	c.(493-495)cCa>cTa	p.P165L	MVB12A_ENST00000392702.2_Silent_p.S167S|MVB12A_ENST00000317040.7_Silent_p.S207S|MVB12A_ENST00000529939.1_Silent_p.S207S|MVB12A_ENST00000543795.1_Silent_p.S207S					multivesicular body subunit 12A																		ACGAGGCCTCCAGCCTCTATG	0.587000													14	25					0	0	0.002450	0	0
FOXN1	8456	broad.mit.edu	37	17	26861883	26861883	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:26861883C>T	ENST00000226247.2	+	7	1323	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P432S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	432					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGCTCCAGGCCCCATTCCTGG	0.677000													8	16					0	0	0.004482	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909488	24909488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:24909488G>A	ENST00000396432.2	-	9	1822	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R233*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	445					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGGCACTCGATCATGAGAG	0.493000													8	13					0	0	0.003163	0	0
HRNR	388697	broad.mit.edu	37	1	152188229	152188229	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152188229C>T	ENST00000368801.2	-	3	5951	c.5876G>A	c.(5875-5877)gGg>gAg	p.G1959E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1959					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACTGCCCAGAACCAGA	0.617000													53	489					0	0	0.003610	0	0
PRKG1	5592	broad.mit.edu	37	10	54040658	54040658	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:54040658C>T	ENST00000373980.4	+	13	1930	c.1513C>T	c.(1513-1515)Ctc>Ttc	p.L505F	PRKG1_ENST00000401604.2_Missense_Mutation_p.L490F|PRKG1_ENST00000373985.1_Missense_Mutation_p.L478F|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L208F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCAGAAAATCTCATCCTAGA	0.393000													25	22					0	0	0.005443	0	0
ZNF157	7712	broad.mit.edu	37	X	47272815	47272815	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47272815G>A	ENST00000377073.3	+	4	1429	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	448					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGTGAATGTGGAAATGCCTTC	0.433000													4	21					0	0	0.000602	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559947	45559947	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:45559947G>A	ENST00000347644.3	+	12	1217	c.1152G>A	c.(1150-1152)gtG>gtA	p.V384V	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	384					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		ATCCGGAAGTGGAGGAGTCCA	0.547000													33	88					0	0	0.005524	0	0
FAM221B	392307	broad.mit.edu	37	9	35826009	35826009	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:35826009C>T	ENST00000423537.2	-	2	419	c.150G>A	c.(148-150)gaG>gaA	p.E50E	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	50										endometrium(2)|kidney(1)|lung(4)	7						AGGTATGGGGCTCTAACGGGG	0.547000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	18					0	0	0.002222	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892237	9892237	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:9892237C>T	ENST00000396573.2	-	12	2562	c.2253G>A	c.(2251-2253)ggG>ggA	p.G751G	GRIN2A_ENST00000396575.2_Silent_p.G751G|GRIN2A_ENST00000562109.1_Silent_p.G751G|GRIN2A_ENST00000535259.1_Silent_p.G594G|GRIN2A_ENST00000404927.2_Silent_p.G751G|GRIN2A_ENST00000330684.3_Silent_p.G751G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	751					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTACCCACTCCCGATGGTCA	0.522000													20	33					0	0	0.008871	0	0
RGPD3	653489	broad.mit.edu	37	2	107073457	107073457	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:107073457G>A	ENST00000409886.3	-	4	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F	RGPD3_ENST00000304514.7_Silent_p.F125F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	125					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GACTTCCTGGGAAAAGTTTTG	0.328000													57	69					0	0	0.003610	0	0
NTN5	126147	broad.mit.edu	37	19	49166770	49166770	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:49166770G>A	ENST00000270235.4	-	6	1150	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	352	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCTGGTGTCCGACATATTGCA	0.592000													31	84					0	0	0.001786	0	0
CCDC176	80127	broad.mit.edu	37	14	74489674	74489674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:74489674C>T	ENST00000394009.3	+	2	235	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		CAATGCCTCCCTTTGGGAGGC	0.413000													5	14					0	0	0.000602	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109382	145109382	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:145109382G>A	ENST00000401237.1	-	0	8					NR_030581.1																						TTCGTTGCAAGGATTAAGGAG	0.378000													14	8					0	0	0.002450	0	0
GLRA3	8001	broad.mit.edu	37	4	175598368	175598368	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:175598368G>A	ENST00000274093.3	-	7	1290	c.788C>T	c.(787-789)cCc>cTc	p.P263L	GLRA3_ENST00000340217.5_Missense_Mutation_p.P263L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	263					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CAGGAGACTGGGAATGTACAT	0.453000													9	6					0	0	0.004482	0	0
SEC22B	9554	broad.mit.edu	37	1	145116037	145116037	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:145116037G>A	ENST00000453618.1	+	0	1123							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCCTGAAAATGAAAGGTTGCA	0.408000													4	11					0	0	0.000248	0	0
LPHN2	23266	broad.mit.edu	37	1	82433739	82433739	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:82433739C>T	ENST00000370728.1	+	16	3012	c.2367C>T	c.(2365-2367)tcC>tcT	p.S789S	LPHN2_ENST00000370721.1_Silent_p.S714S|LPHN2_ENST00000370723.1_Silent_p.S776S|LPHN2_ENST00000370730.1_Silent_p.S789S|LPHN2_ENST00000370727.1_Silent_p.S789S|LPHN2_ENST00000394879.1_Silent_p.S776S|LPHN2_ENST00000335786.5_Silent_p.S789S|LPHN2_ENST00000359929.3_Silent_p.S776S|LPHN2_ENST00000370725.1_Silent_p.S789S|LPHN2_ENST00000370713.1_Silent_p.S776S|LPHN2_ENST00000319517.6_Silent_p.S776S|LPHN2_ENST00000370717.2_Silent_p.S789S|LPHN2_ENST00000370715.1_Silent_p.S776S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.S789S			O95490	LPHN2_HUMAN	latrophilin 2	789	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAAACTGCTCCTTCTGGAACT	0.388000													12	31					0	0	0.002450	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905121	32905121	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32905121C>T	ENST00000416244.2	-	3	644	c.450G>A	c.(448-450)agG>agA	p.R150R	HLA-DMB_ENST00000418107.2_Silent_p.R150R			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	150	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCGTTCTTCCTCCACGTGA	0.537000													28	70					0	0	0.008361	0	0
TM2D3	80213	broad.mit.edu	37	15	102186926	102186926	+	Splice_Site	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:102186926A>G	ENST00000561373.1	-	2	864		c.e2+1		TM2D3_ENST00000559107.1_Splice_Site|TM2D3_ENST00000347970.3_Splice_Site|TM2D3_ENST00000333202.3_Splice_Site|TM2D3_ENST00000428002.2_Splice_Site			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3							integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTCTGACCTACCCAAGCAGT	0.473000													13	19					0	0	0.001368	0	0
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:210970995G>A	ENST00000367007.4	-	9	1858	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L	KCNH1_ENST00000271751.4_Silent_p.L590L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	590					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.L590L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGTGCCCGGAGGCAGCCAT	0.612000													21	46					0	0	0.001523	0	0
OR4K2	390431	broad.mit.edu	37	14	20344485	20344485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20344485C>T	ENST00000298642.2	+	1	95	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCTAATTCCTGGGAACTA	0.403000													14	94					0	0	0.003163	0	0
NABP1	64859	broad.mit.edu	37	2	192550392	192550392	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:192550392C>T	ENST00000410026.1	+	6	528	c.273C>T	c.(271-273)ggC>ggT	p.G91G	NABP1_ENST00000409510.1_Silent_p.G91G|NABP1_ENST00000425611.2_Silent_p.G171G	NM_001031716.2|NM_001254736.1	NP_001026886.1|NP_001241665.1			nucleic acid binding protein 1																		GAAGCAATGGCCGGGGACTTA	0.413000													5	14					0	0	0.000602	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316293	30316293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:30316293C>T	ENST00000375377.1	-	3	2885	c.2784G>A	c.(2782-2784)tgG>tgA	p.W928*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	928										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGGATGGAGGCCAGGCACGTG	0.617000													14	24					0	0	0.002450	0	0
COBL	23242	broad.mit.edu	37	7	51092997	51092997	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:51092997G>A	ENST00000395542.2	-	14	4007	c.3823C>T	c.(3823-3825)Cct>Tct	p.P1275S	COBL_ENST00000265136.7_Missense_Mutation_p.P1193S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1193										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTAGCAGAGGACTTTCCGAG	0.587000													13	25					0	0	0.001855	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026853	93026853	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:93026853G>A	ENST00000523629.1	-	4	876	c.422C>T	c.(421-423)tCa>tTa	p.S141L	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S114L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S114L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S152L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S104L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S141L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S104L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S104L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S104L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	141	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TATCTCGGGTGAAATGTCATT	0.512000													10	39					0	0	0.000978	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144922189	144922189	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:144922189G>A	ENST00000529945.1	-	4	1907	c.1468C>T	c.(1468-1470)Cac>Tac	p.H490Y	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H464Y|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H114Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H464Y|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H327Y|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H327Y|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H490Y|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H393Y|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H327Y|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H327Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	327					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACATACGTGAAGTTGTCCA	0.443000			T	PDGFRB	MPD								6	19					0	0	0.001168	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42828037	42828037	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:42828037A>G	ENST00000314073.5	+	11	2468	c.2292A>G	c.(2290-2292)ctA>ctG	p.L764L	GLTSCR1L_ENST00000394168.1_Silent_p.L764L					GLTSCR1-like																		CTCAGCTCCTAAAAAGGACCC	0.378000													35	112					0	0	0.008740	0	0
SENP1	29843	broad.mit.edu	37	12	48491808	48491808	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:48491808G>A	ENST00000339976.6	-	3	582	c.200C>T	c.(199-201)cCa>cTa	p.P67L	SENP1_ENST00000549518.1_Missense_Mutation_p.P35L|SENP1_ENST00000551330.1_Missense_Mutation_p.P35L|SENP1_ENST00000549595.1_Missense_Mutation_p.P35L|SENP1_ENST00000448372.1_Missense_Mutation_p.P35L|SENP1_ENST00000004980.5_Missense_Mutation_p.P35L			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	35	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTGGTCCTCTGGAAAACCTGT	0.408000													4	11					0	0	0.000248	0	0
KRT15	3866	broad.mit.edu	37	17	39671910	39671910	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:39671910T>G	ENST00000254043.3	-	6	4646	c.1061A>C	c.(1060-1062)gAg>gCg	p.E354A	KRT15_ENST00000393981.3_Missense_Mutation_p.E189A|KRT15_ENST00000393974.3_Missense_Mutation_p.E189A|KRT15_ENST00000393976.2_Missense_Mutation_p.E354A	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	354	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATAGCGGCACTCTGTCTCGGC	0.602000													16	20					0	0	0.008871	0	0
ZNF614	80110	broad.mit.edu	37	19	52519103	52519103	+	Missense_Mutation	SNP	G	G	A	rs147676609		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52519103G>A	ENST00000270649.6	-	5	2292	c.1748C>T	c.(1747-1749)cCt>cTt	p.P583L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACTTATAAGGAAGGAGCTG	0.393000													39	61					0	0	0.002222	0	0
MIR422A	494334	broad.mit.edu	37	15	64163218	64163218	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:64163218C>T	ENST00000362286.1	-	0	0					NR_029944.1																						gtgcttctctcgtgtcctcac	0.527000													18	38					0	0	0.008871	0	0
LPHN3	23284	broad.mit.edu	37	4	62903448	62903448	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:62903448G>A	ENST00000512091.1	+	23	4134		c.e23-1		LPHN3_ENST00000507164.1_Splice_Site|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000507625.1_Splice_Site|LPHN3_ENST00000514157.1_Splice_Site|LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000506700.1_Splice_Site|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000514996.1_Splice_Site|LPHN3_ENST00000514591.1_Splice_Site|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000506746.1_Splice_Site|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000511324.1_Splice_Site			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAATTGGCTAGGTACGAAAAG	0.358000													21	24					0	0	0.003954	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:160039886C>T	ENST00000327245.5	-	18	3546	c.2700G>A	c.(2698-2700)acG>acA	p.T900T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	900					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGCAATCGTATCTGGAA	0.507000													11	14					0	0	0.000978	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109383	145109383	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:145109383G>A	ENST00000401237.1	-	0	7					NR_030581.1																						TCGTTGCAAGGATTAAGGAGA	0.373000													15	8					0	0	0.003163	0	0
HAT1	8520	broad.mit.edu	37	2	172841174	172841174	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:172841174C>T	ENST00000264108.4	+	9	938	c.902C>T	c.(901-903)tCc>tTc	p.S301F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S216F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	301					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCTGTTTTTCCCGGGAAAAA	0.348000													5	16					0	0	0.000602	0	0
TP63	8626	broad.mit.edu	37	3	189587144	189587144	+	Missense_Mutation	SNP	G	G	A	rs140374868		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:189587144G>A	ENST00000264731.3	+	9	1250	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	TP63_ENST00000354600.5_Missense_Mutation_p.M293I|TP63_ENST00000382063.4_Missense_Mutation_p.M302I|TP63_ENST00000392463.2_Missense_Mutation_p.M293I|TP63_ENST00000449992.1_Missense_Mutation_p.M208I|TP63_ENST00000418709.2_Missense_Mutation_p.M387I|TP63_ENST00000392461.3_Missense_Mutation_p.M293I|TP63_ENST00000456148.1_Missense_Mutation_p.M289I|TP63_ENST00000392460.3_Missense_Mutation_p.M387I|TP63_ENST00000320472.5_Missense_Mutation_p.M387I|TP63_ENST00000437221.1_Missense_Mutation_p.M293I|TP63_ENST00000440651.2_Missense_Mutation_p.M383I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	387	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M387I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTATCCAGATGACATCCATCA	0.398000										HNSCC(45;0.13)			13	15					0	0	0.008871	0	0
PPP1R21	129285	broad.mit.edu	37	2	48681813	48681813	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:48681813T>C	ENST00000294952.8	+	3	363	c.206T>C	c.(205-207)cTt>cCt	p.L69P	PPP1R21_ENST00000449090.2_Missense_Mutation_p.L69P|PPP1R21_ENST00000281394.4_Missense_Mutation_p.L69P	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	69										endometrium(2)|kidney(4)|lung(9)	15						AATCTGCAGCTTGCCAAGAGG	0.398000													18	27					0	0	0.008871	0	0
TRAV18	28665	broad.mit.edu	37	14	22471846	22471846	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22471846C>T	ENST00000390446.3	+	0	374																											AGTGACAGTTCCTTCCACCTG	0.552000													10	16					0	0	0.006214	0	0
PRR23B	389151	broad.mit.edu	37	3	138738740	138738740	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:138738740G>A	ENST00000329447.5	-	1	1028	c.764C>T	c.(763-765)cCg>cTg	p.P255L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	255	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCTTGCACGGAGGGCGTTC	0.677000													9	32					0	0	0.006214	0	0
OR2L13	284521	broad.mit.edu	37	1	248262729	248262729	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248262729C>A	ENST00000366478.2	+	3	389	c.52C>A	c.(52-54)Ccc>Acc	p.P18T	OR2L13_ENST00000358120.2_Missense_Mutation_p.P18T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGGTCTGCTTCCCCCAAATCA	0.403000													61	59					2.19297e-23	2.65422e-23	0.003610	1	0
SSX3	10214	broad.mit.edu	37	X	48209480	48209480	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48209480C>T	ENST00000298396.2	-	6	460	c.408G>A	c.(406-408)ggG>ggA	p.G136G	SSX3_ENST00000376893.3_Silent_p.G136G|SSX3_ENST00000376895.1_Silent_p.G48G	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						ACAGCTGTTTCCCATCGTTTT	0.473000													41	129					0	0	0.002522	0	0
SLC16A8	23539	broad.mit.edu	37	22	38474640	38474640	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:38474640C>T	ENST00000320521.5	-	5	1378	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	SLC16A8_ENST00000469516.1_5'UTR	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	424					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	ATGAAGACCCCAGCCAGGGCC	0.627000													16	63					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179613203	179613203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179613203C>T	ENST00000360870.5	-	46	14146	c.13924G>A	c.(13924-13926)Gaa>Aaa	p.E4642K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	756	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATGTATTTCCTGCTGTTCC	0.368000													27	48					0	0	0.005443	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097953	34097953	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:34097953C>T	ENST00000341394.4	+	5	726	c.537C>T	c.(535-537)tcC>tcT	p.S179S	CAPRIN1_ENST00000530820.1_Silent_p.S179S|CAPRIN1_ENST00000532820.1_Silent_p.S179S|CAPRIN1_ENST00000529307.1_Silent_p.S98S|CAPRIN1_ENST00000389645.3_Silent_p.S179S	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	179					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CAATATTGTCCGAAGAGGAGT	0.398000													19	11					0	0	0.006122	0	0
GIPC3	126326	broad.mit.edu	37	19	3589544	3589544	+	Silent	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3589544G>T	ENST00000322315.5	+	4	741	c.696G>T	c.(694-696)gtG>gtT	p.V232V		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	232										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCACagtggaggaagcgg	0.607000													17	33					1.56452e-12	1.88102e-12	0.007413	1	0
FBXO45	200933	broad.mit.edu	37	3	196304365	196304365	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:196304365C>T	ENST00000311630.6	+	2	657	c.360C>T	c.(358-360)tcC>tcT	p.S120S	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	120	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATGACTGCTCCAGGAATGTCT	0.363000													11	9					0	0	0.003163	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032512	21032512	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21032512C>T	ENST00000381545.3	+	11	1497	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.F426F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F426F|SLCO1B3_ENST00000261196.2_Silent_p.F426F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	426					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTATATTTCCCTCTAATCT	0.313000													5	37					0	0	0.001984	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141113	239141113	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:239141113G>A	ENST00000456601.1	+	0	789																											GAGAGGACTCGATGAAAGGAA	0.498000													12	25					0	0	0.001368	0	0
NFXL1	152518	broad.mit.edu	37	4	47886373	47886373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:47886373G>A	ENST00000507489.1	-	15	2082	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	NFXL1_ENST00000329043.3_Missense_Mutation_p.P636S|NFXL1_ENST00000381538.3_Missense_Mutation_p.P636S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	636						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATAGGAATAGGAACTTGACAT	0.353000													17	18					0	0	0.007413	0	0
WDR63	126820	broad.mit.edu	37	1	85575818	85575818	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85575818G>A	ENST00000294664.6	+	16	1966	c.1786_splice	c.e16+1	p.D596_splice	WDR63_ENST00000326813.8_Splice_Site_p.D557_splice|WDR63_ENST00000370596.1_Splice_Site_p.D557_splice	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	596										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAAAACACAAGGTAACTGCCT	0.488000													10	29					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126398497	126398497	+	Missense_Mutation	SNP	G	G	A	rs150505878	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126398497G>A	ENST00000335110.5	+	12	7270	c.7270G>A	c.(7270-7272)Gat>Aat	p.D2424N	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4161	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGTATGGCGATTTTATTTC	0.368000													6	34					0	0	0.001984	0	0
DNAH11	8701	broad.mit.edu	37	7	21906166	21906166	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:21906166G>A	ENST00000328843.6	+	72	11627	c.11596G>A	c.(11596-11598)Gaa>Aaa	p.E3866K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3859K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3866					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTGGGTAGAATCCGAGTG	0.428000									Kartagener syndrome				24	50					0	0	0.003330	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909364	909364	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:909364G>A	ENST00000379409.2	+	13	1772	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R494K|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R529K			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	581										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGCAGTCCAGAGCCGCTCAG	0.706000													5	8					0	0	0.000602	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255069	140255069	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140255069C>T	ENST00000398631.2	+	1	12	c.12C>T	c.(10-12)atC>atT	p.I4I	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGATTATCGGACCAAGAG	0.552000													7	13					0	0	0.003080	0	0
FLG2	388698	broad.mit.edu	37	1	152328733	152328733	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152328733G>A	ENST00000388718.5	-	3	1601	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	510	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGAGACAGACCCATGCTG	0.517000													62	152					0	0	0.003610	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472823	46472823	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:46472823C>T	ENST00000328306.4	-	16	1852	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	609					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGATGGGCTTCAGGTAACTTT	0.463000													20	45					0	0	0.004656	0	0
SCN2A	6326	broad.mit.edu	37	2	166243376	166243376	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166243376G>A	ENST00000357398.3	+	26	4962	c.4672G>A	c.(4672-4674)Gaa>Aaa	p.E1558K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1558K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E1558K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1558K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1558					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCAGAGTCAAGAAATGACAAA	0.388000													16	24					0	0	0.004990	0	0
ADCY7	113	broad.mit.edu	37	16	50325658	50325658	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:50325658C>T	ENST00000394697.2	+	4	727	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADCY7_ENST00000537579.1_Silent_p.F129F|ADCY7_ENST00000254235.3_Silent_p.F129F|ADCY7_ENST00000566433.2_Silent_p.F129F|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Silent_p.F129F			P51828	ADCY7_HUMAN	adenylate cyclase 7	129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCCTTCTTCCTGTTCATTG	0.657000													6	17					0	0	0.003080	0	0
TET3	200424	broad.mit.edu	37	2	74274557	74274557	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:74274557C>T	ENST00000409262.3	+	1	1108	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	370							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCCCATCCCCTGTACTTCA	0.652000													8	9					0	0	0.006214	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605391	140605391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140605391C>T	ENST00000239449.4	+	1	2314	c.2314C>T	c.(2314-2316)Ccc>Tcc	p.P772S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P619S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGATTATCCCCAATTTTCA	0.428000													16	42					0	0	0.004990	0	0
GUCY2C	2984	broad.mit.edu	37	12	14767822	14767822	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14767822T>C	ENST00000261170.3	-	26	3162	c.3026A>G	c.(3025-3027)aAc>aGc	p.N1009S	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1009					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGTTGGCAGGTTGAATTTCTG	0.478000													4	5					0	0	0.001168	0	0
ADH1B	125	broad.mit.edu	37	4	100239275	100239275	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:100239275G>A	ENST00000305046.8	-	3	254	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ADH1B_ENST00000394887.3_Missense_Mutation_p.P23S|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	63					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCACAGGAAGGGGGGTC	0.507000													50	43					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7475910	7475910	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:7475910G>A	ENST00000399422.4	+	8	1254	c.1206_splice	c.e8+1	p.Q402_splice		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGATGTCCAGGTAGGTTGAG	0.398000													3	7					0	0	0.004672	0	0
TLE6	79816	broad.mit.edu	37	19	2987089	2987089	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2987089C>T	ENST00000246112.4	+	7	595	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	TLE6_ENST00000452088.1_Missense_Mutation_p.L9F|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	9					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CTCCGACTGGCTCCGGCGGCC	0.627000													22	39					0	0	0.002299	0	0
CFH	3075	broad.mit.edu	37	1	196683013	196683013	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196683013G>A	ENST00000367429.4	+	10	1725	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	495	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACATGTGGGAAAGATGGAT	0.333000													25	24					0	0	0.007291	0	0
ATG4A	115201	broad.mit.edu	37	X	107381055	107381055	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:107381055C>T	ENST00000372232.3	+	8	728	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ATG4A_ENST00000545696.1_Missense_Mutation_p.P113L|ATG4A_ENST00000372254.3_Missense_Mutation_p.P166L|ATG4A_ENST00000345734.3_Missense_Mutation_p.P190L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	190					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CGTGTCCTTCCCTTGAGTGCT	0.468000													53	35					0	0	0.003610	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717165	13717165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:13717165G>A	ENST00000279593.3	-	13	3216	c.3007C>T	c.(3007-3009)Ctc>Ttc	p.L1003F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1003					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGTCGTAGAGCCCATCGATG	0.592000													16	15					0	0	0.006122	0	0
RASA2	5922	broad.mit.edu	37	3	141231116	141231116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:141231116C>T	ENST00000286364.3	+	2	280	c.245C>T	c.(244-246)tCt>tTt	p.S82F	RASA2_ENST00000452898.1_Missense_Mutation_p.S82F			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	82	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTGGAAAAATCTTTAAGGTTG	0.294000													23	26					0	0	0.004656	0	0
OR4E2	26686	broad.mit.edu	37	14	22133644	22133644	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22133644C>T	ENST00000408935.1	+	1	348	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTGCTGATCATTGTGGCGT	0.453000													23	66					0	0	0.002780	0	0
SPEN	23013	broad.mit.edu	37	1	16258177	16258177	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:16258177G>A	ENST00000375759.3	+	11	5646	c.5442G>A	c.(5440-5442)aaG>aaA	p.K1814K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1814					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGCTGCAAAGGATAAAAAGC	0.507000													21	30					0	0	0.001523	0	0
MIB1	57534	broad.mit.edu	37	18	19424197	19424197	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:19424197G>A	ENST00000261537.6	+	15	2458	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	732					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTGCCTGGGAGCCATCCAA	0.438000													7	18					0	0	0.001984	0	0
GRAMD4	23151	broad.mit.edu	37	22	47064595	47064595	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:47064595G>A	ENST00000406902.1	+	12	1153	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.G314R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	314					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAACCTTTTCGGGAAGATGGC	0.647000													43	102					0	0	0.003214	0	0
CRISP1	167	broad.mit.edu	37	6	49803096	49803096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49803096C>T	ENST00000335847.4	-	8	784	c.683G>A	c.(682-684)gGa>gAa	p.G228E	CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Missense_Mutation_p.G228E|CRISP1_ENST00000505118.1_Missense_Mutation_p.G228E	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	228					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTGGTTGCATCCCAGATAATG	0.368000													30	51					0	0	0.008361	0	0
KMT2D	8085	broad.mit.edu	37	12	49416504	49416504	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:49416504G>A	ENST00000301067.7	-	51	16206	c.16207C>T	c.(16207-16209)Cgc>Tgc	p.R5403C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACGGGAGCGAGCCAGGTAC	0.562000													28	34					0	0	0.001786	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167534	27167534	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:27167534T>C	ENST00000288699.6	+	12	1609	c.1451T>C	c.(1450-1452)gTt>gCt	p.V484A	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V484A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	484					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTAAAGGTTAGAGGAGTG	0.567000													12	43					0	0	0.001855	0	0
C7	730	broad.mit.edu	37	5	40945390	40945390	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:40945390C>T	ENST00000313164.9	+	7	1017	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	220	MACPF.		R -> Q (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCATCTAGTCGGAAGCGCTC	0.313000													11	13					0	0	0.008291	0	0
TGFBR3	7049	broad.mit.edu	37	1	92178031	92178031	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:92178031C>T	ENST00000212355.4	-	13	2400	c.1935G>A	c.(1933-1935)tcG>tcA	p.S645S	TGFBR3_ENST00000370399.2_Silent_p.S644S|TGFBR3_ENST00000525962.1_Silent_p.S645S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	645	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TATCAGGGTTCGAATATGGAG	0.378000													14	19					0	0	0.001855	0	0
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248486965C>T	ENST00000317965.2	-	1	934	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403000													11	28					0	0	0.001368	0	0
GRM4	2914	broad.mit.edu	37	6	34008342	34008342	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:34008342C>T	ENST00000374181.3	-	6	1521	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	GRM4_ENST00000455714.2_Missense_Mutation_p.R311Q|GRM4_ENST00000545715.1_Missense_Mutation_p.R143Q|GRM4_ENST00000544773.1_Missense_Mutation_p.R282Q|GRM4_ENST00000374177.3_Missense_Mutation_p.R335Q|GRM4_ENST00000535756.1_Missense_Mutation_p.R318Q|GRM4_ENST00000538487.1_Missense_Mutation_p.R451Q	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	451					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTTGACGTTTCGGATGTACTT	0.662000													18	10					0	0	0.006122	0	0
PTPRF	5792	broad.mit.edu	37	1	44070956	44070956	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:44070956G>A	ENST00000359947.4	+	18	3571	c.3231G>A	c.(3229-3231)ctG>ctA	p.L1077L	PTPRF_ENST00000438120.1_Silent_p.L1068L|PTPRF_ENST00000372413.3_Silent_p.L1068L|PTPRF_ENST00000372414.3_Silent_p.L1077L|PTPRF_ENST00000422171.2_Silent_p.L425L|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1077	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTTTGTGCTGATGAACCGTG	0.622000													26	32					0	0	0.001786	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002446	41002446	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:41002446G>A	ENST00000244565.3	-	2	456	c.368C>T	c.(367-369)tCc>tTc	p.S123F	UNC5CL_ENST00000373164.1_Missense_Mutation_p.S123F	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	123	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GATGAGCAAGGAGATGCCTGT	0.537000													27	57					0	0	0.004656	0	0
C8orf34	116328	broad.mit.edu	37	8	69434197	69434197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:69434197C>T	ENST00000337103.4	+	5	2188	c.596C>T	c.(595-597)cCt>cTt	p.P199L	C8orf34_ENST00000539993.1_Missense_Mutation_p.P224L|C8orf34_ENST00000348340.2_Missense_Mutation_p.P224L|C8orf34_ENST00000518698.1_Missense_Mutation_p.P310L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	224					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGCTCTAGTCCTGCAGGAAGG	0.408000													10	22					0	0	0.008291	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402363	47402363	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:47402363G>A	ENST00000310638.4	-	4	514	c.483C>T	c.(481-483)ctC>ctT	p.L161L	CYP4A11_ENST00000371904.4_Silent_p.L161L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.L161L|CYP4A11_ENST00000457840.2_Silent_p.L57L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	161					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGTCTGCCATGAGCCCCACAT	0.562000													15	22					0	0	0.004990	0	0
DHX30	22907	broad.mit.edu	37	3	47887312	47887312	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:47887312C>T	ENST00000446256.2	+	11	1517	c.945C>T	c.(943-945)atC>atT	p.I315I	DHX30_ENST00000348968.4_Silent_p.I326I|DHX30_ENST00000445061.1_Silent_p.I354I|DHX30_ENST00000457607.1_Silent_p.I382I	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	354						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCGAGCCCATCCTCCGCAAGA	0.592000													6	26					0	0	0.001984	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600013	31600013	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31600013C>T	ENST00000376033.2	+	16	3797	c.3563C>T	c.(3562-3564)cCa>cTa	p.P1188L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1188L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1188	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGAGCCCTCCAGCCAAGTCT	0.642000													8	26					0	0	0.004482	0	0
TRPM2	7226	broad.mit.edu	37	21	45786768	45786768	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:45786768G>A	ENST00000397928.1	+	4	1000	c.555G>A	c.(553-555)cgG>cgA	p.R185R	TRPM2_ENST00000300482.5_Silent_p.R185R|TRPM2_ENST00000397932.2_Silent_p.R185R|TRPM2_ENST00000300481.9_Silent_p.R185R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	185						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAAGCCGCGGCTGAAGAGCA	0.632000													6	16					0	0	0.001984	0	0
OR2V2	285659	broad.mit.edu	37	5	180582422	180582422	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:180582422G>A	ENST00000328275.1	+	1	480	c.480G>A	c.(478-480)caG>caA	p.Q160Q		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTGATCCAGATGGTGGTAG	0.483000													37	86					0	0	0.003271	0	0
PPIG	9360	broad.mit.edu	37	2	170493773	170493773	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:170493773C>T	ENST00000260970.3	+	14	2225	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	PPIG_ENST00000448752.2_Missense_Mutation_p.R669C|PPIG_ENST00000409714.3_Missense_Mutation_p.R654C	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	669					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTCTAAAAGTCGTGATCATAA	0.343000													16	39					0	0	0.008871	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090351	115090351	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:115090351C>T	ENST00000361283.1	+	3	1343	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	345	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TCTGTGTCTCCTGGACCTTGG	0.517000													12	43					0	0	0.001368	0	0
FNBP4	23360	broad.mit.edu	37	11	47774550	47774550	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:47774550G>A	ENST00000263773.5	-	4	567	c.555C>T	c.(553-555)acC>acT	p.T185T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	185										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAGAAGAAAGGGTAGATGTTG	0.493000													15	12					0	0	0.004007	0	0
WDR5B	54554	broad.mit.edu	37	3	122134306	122134306	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:122134306C>T	ENST00000330689.4	-	1	576	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	24										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TCAGGCACTTCCTTGCTCTGA	0.493000													16	65					0	0	0.004007	0	0
CAPSL	133690	broad.mit.edu	37	5	35910511	35910511	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35910511C>T	ENST00000397367.2	-	3	398	c.272G>A	c.(271-273)gGa>gAa	p.G91E	CAPSL_ENST00000514524.1_Missense_Mutation_p.G91E|CAPSL_ENST00000397366.1_Missense_Mutation_p.G91E	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	91	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGTTCCATTTCCATCTTTATC	0.373000													22	46					0	0	0.002299	0	0
FLRT2	23768	broad.mit.edu	37	14	86087963	86087963	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:86087963C>T	ENST00000330753.4	+	2	872	c.105C>T	c.(103-105)gcC>gcT	p.A35A	FLRT2_ENST00000554746.1_Silent_p.A35A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	35					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACTCCTGGCCTGCCCTAGTG	0.547000													13	49					0	0	0.003163	0	0
SCN9A	6335	broad.mit.edu	37	2	167055491	167055491	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167055491C>T	ENST00000375387.4	-	27	6001	c.5661G>A	c.(5659-5661)cgG>cgA	p.R1887R	SCN9A_ENST00000409672.1_Silent_p.R1875R|SCN9A_ENST00000303354.6_Silent_p.R1887R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R1886R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTCTTGTTTCCGTTTTAGTG	0.403000													49	73					0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37028268	37028268	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37028268C>T	ENST00000358047.3	+	1	1837	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	595										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGTCTCCCCCCGGAGCCCC	0.647000													4	28					0	0	0.003080	0	0
NUP133	55746	broad.mit.edu	37	1	229606358	229606358	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:229606358T>C	ENST00000261396.3	-	15	2136	c.2045A>G	c.(2044-2046)aAc>aGc	p.N682S	NUP133_ENST00000366679.1_Missense_Mutation_p.N682S|NUP133_ENST00000537506.1_Missense_Mutation_p.N666S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	682					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGGAGTCAGGTTGGATGGGAT	0.473000													30	58					0	0	0.002445	0	0
BRD9	65980	broad.mit.edu	37	5	889228	889228	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:889228C>T	ENST00000323510.4	-	2	165	c.166G>A	c.(166-168)Gga>Aga	p.G56R	BRD9_ENST00000435709.2_Missense_Mutation_p.G56R|BRD9_ENST00000467963.1_Missense_Mutation_p.G172R|BRD9_ENST00000388890.4_Missense_Mutation_p.G56R|BRD9_ENST00000483173.1_Missense_Mutation_p.G119R			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	172							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATTGAATATCCAGGAGCAATT	0.343000													6	10					0	0	0.001168	0	0
WDR49	151790	broad.mit.edu	37	3	167247019	167247019	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:167247019T>C	ENST00000308378.3	-	10	1476	c.1171A>G	c.(1171-1173)Aac>Gac	p.N391D	WDR49_ENST00000453925.2_Missense_Mutation_p.N455D|WDR49_ENST00000476376.1_Missense_Mutation_p.N216D|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	391										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GATACCAGGTTAGCTCCTCCT	0.393000													16	12					0	0	0.004990	0	0
ITSN2	50618	broad.mit.edu	37	2	24533432	24533432	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:24533432G>A	ENST00000355123.4	-	6	925	c.482C>T	c.(481-483)tCt>tTt	p.S161F	ITSN2_ENST00000406921.3_Missense_Mutation_p.S161F|ITSN2_ENST00000361999.3_Missense_Mutation_p.S161F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	161					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCTAACAGAAGGCACTAG	0.463000													13	24					0	0	0.002450	0	0
MYH6	4624	broad.mit.edu	37	14	23865587	23865587	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:23865587G>A	ENST00000405093.3	-	20	2405	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MYH6_ENST00000356287.3_Missense_Mutation_p.R779W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	779	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCTCATCCCGCATCTCCTCC	0.612000													10	19					0	0	0.006214	0	0
OR9A4	130075	broad.mit.edu	37	7	141619534	141619534	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141619534C>T	ENST00000548136.1	+	1	918	c.859C>T	c.(859-861)Cct>Tct	p.P287S	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTTCCTCAATCCTTTCATCTT	0.473000													14	39					0	0	0.002450	0	0
ENAH	55740	broad.mit.edu	37	1	225700594	225700594	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:225700594A>G	ENST00000366844.2	-	8	1794	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	ENAH_ENST00000284563.6_Missense_Mutation_p.M695T|ENAH_ENST00000366843.2_Missense_Mutation_p.M448T	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	448	EVH2 block B.|EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CAGGGCACTCATTTCTTCCAT	0.438000													66	61					0	0	0.003610	0	0
DTNBP1	84062	broad.mit.edu	37	6	15651589	15651589	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:15651589A>C	ENST00000338950.5	-	3	221	c.116T>G	c.(115-117)gTt>gGt	p.V39G	DTNBP1_ENST00000344537.5_Missense_Mutation_p.V39G|DTNBP1_ENST00000355917.3_Missense_Mutation_p.V39G	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	39					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CAAAAATGGAACAGTCCTGCC	0.323000									Hermansky-Pudlak syndrome				24	90					0	0	0.005443	0	0
ZNF750	79755	broad.mit.edu	37	17	80788605	80788605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:80788605C>T	ENST00000269394.3	-	3	2418	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ZNF750_ENST00000572562.1_Missense_Mutation_p.E130K|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	529						intracellular	zinc ion binding	p.E529K(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TACGTGGGTTCGTGGGTGGCT	0.617000													21	40					0	0	0.001882	0	0
LRRC15	131578	broad.mit.edu	37	3	194081019	194081019	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:194081019G>A	ENST00000347624.3	-	2	839	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	LRRC15_ENST00000428839.1_Silent_p.L258L|LRRC15_ENST00000439944.2_Silent_p.L258L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	252						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		TTGTTGGACAGGTAGAGTCTC	0.552000													31	21					0	0	0.002096	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559292	178559292	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:178559292C>T	ENST00000251582.7	-	15	2330	c.2229G>A	c.(2227-2229)gaG>gaA	p.E743E		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	743	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCAGGGATCTCAAACATCT	0.542000													15	19					0	0	0.006122	0	0
FAM170A	340069	broad.mit.edu	37	5	118970427	118970427	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:118970427G>A	ENST00000515256.1	+	3	1156	c.984G>A	c.(982-984)agG>agA	p.R328R				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAAAGGACAGGAAGTGAGCAA	0.552000													12	34					0	0	0.001855	0	0
RNF152	220441	broad.mit.edu	37	18	59483240	59483240	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59483240C>T	ENST00000312828.3	-	2	1556	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	153					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TCCTGCTCCTCCTCCACCGCC	0.657000													7	41					0	0	0.003080	0	0
NALCN	259232	broad.mit.edu	37	13	102051387	102051387	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:102051387G>A	ENST00000251127.6	-	2	172	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	NALCN_ENST00000376200.5_Missense_Mutation_p.L31F|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L31F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	31						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAATCCAGAGGATGTCAGCA	0.423000													8	27					0	0	0.003080	0	0
WWC2	80014	broad.mit.edu	37	4	184233602	184233602	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:184233602C>T	ENST00000403733.3	+	22	3692	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	WWC2_ENST00000448232.2_Missense_Mutation_p.R1189W|WWC2_ENST00000508747.1_Missense_Mutation_p.R293W|WWC2_ENST00000504005.1_Missense_Mutation_p.R847W|WWC2_ENST00000513834.1_Missense_Mutation_p.R1116W	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1165										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAGGTGCCTCGGCAGGTGCA	0.547000													9	42					0	0	0.006214	0	0
LCN2	3934	broad.mit.edu	37	9	130911873	130911873	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:130911873C>T	ENST00000540948.1	+	1	142	c.69C>T	c.(67-69)tcC>tcT	p.S23S	LCN2_ENST00000277480.2_Silent_p.S23S|LCN2_ENST00000373013.2_Silent_p.S23S|LCN2_ENST00000372998.1_Silent_p.S23S|LCN2_ENST00000373017.1_Silent_p.S23S|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	23					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCAGGACTCCACCTCAGACC	0.637000													41	18					0	0	0.005524	0	0
MAP7D2	256714	broad.mit.edu	37	X	20071000	20071000	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:20071000G>A	ENST00000379651.3	-	5	609	c.591C>T	c.(589-591)gaC>gaT	p.D197D	MAP7D2_ENST00000379643.5_Silent_p.D197D|MAP7D2_ENST00000443379.3_Intron|MAP7D2_ENST00000543767.1_Silent_p.D90D|MAP7D2_ENST00000452324.3_Silent_p.D153D	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	197										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ACTTGCCTCGGTCTGGGGAAT	0.453000													15	39					0	0	0.004007	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605742	58605742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58605742G>A	ENST00000287275.1	-	3	568	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	60						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCTGTTTCTGAGGCCGGGTA	0.463000													14	10					0	0	0.004990	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298407	38298407	+	Missense_Mutation	SNP	C	C	T	rs72549379		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:38298407C>T	ENST00000260630.3	-	3	1491	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	CYP1B1_ENST00000407341.1_Missense_Mutation_p.V364M|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	364			V -> M (in GLC3A).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TCCCTCCCCACGACCTGATCC	0.507000													9	17					0	0	0.006214	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065139	15065139	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:15065139G>A	ENST00000430939.2	-	7	1109	c.980C>T	c.(979-981)tCg>tTg	p.S327L	SLC1A6_ENST00000600144.1_Missense_Mutation_p.S313L|SLC1A6_ENST00000221742.3_Missense_Mutation_p.S391L			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	391					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAGCGTTGCCGAGCTGGGGGA	0.697000													20	25					0	0	0.001523	0	0
SPTLC1	10558	broad.mit.edu	37	9	94821582	94821582	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:94821582G>A	ENST00000262554.2	-	7	574	c.569C>T	c.(568-570)gCt>gTt	p.A190V	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	190						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAGCAGGCAGCTCTATCTCT	0.403000													14	38					0	0	0.003163	0	0
LIX1L	128077	broad.mit.edu	37	1	145498555	145498555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:145498555C>T	ENST00000369308.3	+	6	865	c.791C>T	c.(790-792)tCg>tTg	p.S264L	RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	264										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTCATTATTCGCACCGGGCC	0.537000													16	62					0	0	0.004990	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:77353924G>A	ENST00000282849.5	-	16	2772	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTAACTGGAGGAAACCTGCAG	0.537000													15	40					0	0	0.003163	0	0
NEBL	10529	broad.mit.edu	37	10	21169768	21169768	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:21169768G>A	ENST00000377122.4	-	5	831	c.435C>T	c.(433-435)ccC>ccT	p.P145P	NEBL_ENST00000377119.1_Silent_p.P145P|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	145					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAACCTCAGGGGGCTCCTTCA	0.403000													25	56					0	0	0.007291	0	0
LECT1	11061	broad.mit.edu	37	13	53307392	53307392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:53307392C>T	ENST00000448904.2	-	3	426	c.316G>A	c.(316-318)Gga>Aga	p.G106R	LECT1_ENST00000377962.3_Missense_Mutation_p.G106R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	106	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TCTTCAGCTCCACTTCCCATT	0.383000													11	55					0	0	0.008291	0	0
ENAM	10117	broad.mit.edu	37	4	71509927	71509927	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:71509927C>T	ENST00000396073.3	+	9	3065	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	928					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAACAAGCATCCTACCAGGCC	0.478000													10	36					0	0	0.008291	0	0
CCDC36	339834	broad.mit.edu	37	3	49274047	49274047	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:49274047C>T	ENST00000438782.1	+	3	359	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CCDC36_ENST00000366429.2_Silent_p.F41F|CCDC36_ENST00000296449.5_Silent_p.F41F|CCDC36_ENST00000452691.2_Silent_p.F41F|CCDC36_ENST00000451634.2_Silent_p.F31F			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	41										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		ATTCCCAGTTCCTCTTTGGAT	0.378000													4	29					0	0	0.000248	0	0
GHITM	27069	broad.mit.edu	37	10	85909907	85909907	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:85909907C>T	ENST00000372134.3	+	7	882	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	230					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GGAGGCCTCTCCACTGTGGCC	0.567000													39	31					0	0	0.006230	0	0
ASIP	434	broad.mit.edu	37	20	32850692	32850692	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:32850692C>T	ENST00000568305.1	+	3	417	c.215C>T	c.(214-216)tCt>tTt	p.S72F	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.S72F			P42127	ASIP_HUMAN	agouti signaling protein	72	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						AAGAAAAGATCTTCTAAGGTA	0.463000													50	19					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313799	54313799	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54313799C>T	ENST00000324134.6	-	3	1282	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	NLRP12_ENST00000391773.1_Missense_Mutation_p.E372K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E372K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E372K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E372K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E372K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E372K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E372K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	372	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGAAGTATTCCTTCCTTTCT	0.557000													55	109					0	0	0.003610	0	0
OR6C6	283365	broad.mit.edu	37	12	55688939	55688939	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55688939G>A	ENST00000358433.2	-	1	77	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGAAACAGGAAAATCACAA	0.408000													6	21					0	0	0.001168	0	0
APC2	10297	broad.mit.edu	37	19	1460252	1460252	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1460252A>G	ENST00000535453.1	+	10	3089	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S	APC2_ENST00000233607.2_Missense_Mutation_p.N459S|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.N185S			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	459					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GACCCGCTGAACCTGGCGCTG	0.642000													19	36					0	0	0.001523	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172104	204172104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:204172104C>T	ENST00000308302.3	-	2	222	c.37G>A	c.(37-39)Ggg>Agg	p.G13R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	13					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CCGGTGATCCCCACACCAATC	0.567000													25	14					0	0	0.003954	0	0
DNAH11	8701	broad.mit.edu	37	7	21908507	21908507	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:21908507C>T	ENST00000328843.6	+	74	11917	c.11886C>T	c.(11884-11886)gaC>gaT	p.D3962D	DNAH11_ENST00000409508.3_Silent_p.D3955D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3962	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACAATTGACTCTGGAAAAT	0.498000									Kartagener syndrome				23	44					0	0	0.005443	0	0
GSTCD	79807	broad.mit.edu	37	4	106755689	106755689	+	Silent	SNP	C	C	T	rs137883958	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:106755689C>T	ENST00000515279.1	+	9	1822	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	GSTCD_ENST00000394730.3_Silent_p.F447F|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Silent_p.F534F|GSTCD_ENST00000360505.5_Silent_p.F534F			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	534						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GGGCTTCCTTCGTCACATGCC	0.423000													13	52					0	0	0.002450	0	0
LRRC3	81543	broad.mit.edu	37	21	45876823	45876823	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:45876823C>T	ENST00000291592.4	+	2	613	c.296C>T	c.(295-297)gCc>gTc	p.A99V		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	99						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTCACAACGCCATCGAGGCC	0.667000													7	29					0	0	0.003080	0	0
PODNL1	79883	broad.mit.edu	37	19	14043522	14043522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:14043522C>T	ENST00000538517.2	-	6	1506	c.1262G>A	c.(1261-1263)tGg>tAg	p.W421*	PODNL1_ENST00000339560.5_Nonsense_Mutation_p.W512*|PODNL1_ENST00000538371.2_Nonsense_Mutation_p.W510*|PODNL1_ENST00000254320.3_Nonsense_Mutation_p.W430*	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	512	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			ATTGCTTTACCAGCTAACTAG	0.562000													12	71					0	0	0.001855	0	0
KRT72	140807	broad.mit.edu	37	12	52980741	52980741	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52980741G>A	ENST00000293745.2	-	8	1419	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	KRT72_ENST00000398066.3_Missense_Mutation_p.S257F|KRT72_ENST00000354310.4_Missense_Mutation_p.S403F|KRT72_ENST00000537672.2_Missense_Mutation_p.S445F	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	445	Tail.					keratin filament	structural molecule activity	p.S445F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GATGCTCACAGAATTTGGATA	0.428000													14	27					0	0	0.004007	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032490	142032490	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142032490G>A	ENST00000547918.2	+	0	343																											CACACAGCAGGGGGACTTGGC	0.552000													4	7					0	0	0.000602	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324197	79324197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:79324197G>T	ENST00000428286.1	-	8	3116	c.1916C>A	c.(1915-1917)tCa>tAa	p.S639*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.S998*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	998					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCTTTTGACTCAAAACC	0.453000													11	24					3.07112e-06	3.66582e-06	0.000978	1	0
PTTG2	10744	broad.mit.edu	37	4	37962247	37962247	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:37962247G>A	ENST00000504686.1	+	1	192	c.192G>A	c.(190-192)ttG>ttA	p.L64L	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	64					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						GAAAGGCTTTGGGCACTGTCA	0.423000													14	25					0	0	0.001855	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176154	207176154	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:207176154T>C	ENST00000374423.3	+	5	7288	c.6902T>C	c.(6901-6903)gTt>gCt	p.V2301A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2301							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTGCCGCGTTGCAAGAAGG	0.507000													3	8					0	0	0.000248	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332660	99332660	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99332660C>T	ENST00000336374.2	-	1	59	c.57G>A	c.(55-57)ctG>ctA	p.L19L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	19					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L19L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGAGGAGTATCAGGCTGACAG	0.463000													14	33					0	0	0.007413	0	0
TCEA3	6920	broad.mit.edu	37	1	23735187	23735187	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:23735187G>A	ENST00000450454.2	-	5	519	c.413C>T	c.(412-414)tCc>tTc	p.S138F	TCEA3_ENST00000374601.3_Missense_Mutation_p.S138F|TCEA3_ENST00000461794.1_Missense_Mutation_p.S101F	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	138	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TGGAGAGGAGGAGGCAGAAGA	0.483000													3	11					0	0	0.000248	0	0
EREG	2069	broad.mit.edu	37	4	75250501	75250501	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75250501G>A	ENST00000244869.2	+	5	652	c.486G>A	c.(484-486)ggG>ggA	p.G162G	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	162					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TTACCTCAGGGGATCCAGAGT	0.378000													7	14					0	0	0.001984	0	0
OR4N5	390437	broad.mit.edu	37	14	20612308	20612308	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:20612308T>C	ENST00000333629.1	+	1	414	c.414T>C	c.(412-414)ccT>ccC	p.P138P		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCATGAACCCTAGAGCCTGCT	0.498000													22	88					0	0	0.003330	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816074	101816074	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:101816074G>A	ENST00000506729.1	-	2	594	c.423C>T	c.(421-423)acC>acT	p.T141T	SLCO6A1_ENST00000389019.3_Silent_p.T141T|SLCO6A1_ENST00000379810.1_Silent_p.T141T|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.T141T|SLCO6A1_ENST00000513675.1_Silent_p.T141T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	141						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCTCAATGGTTTTCAGTT	0.338000													29	37					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525526	176525526	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:176525526A>G	ENST00000367662.3	+	2	1232	c.68A>G	c.(67-69)aAc>aGc	p.N23S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N23S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	23					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.N23I(2)		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						TGTTCTGCCAACTCTGAGCTG	0.512000													27	81					0	0	0.004656	0	0
SEPN1	57190	broad.mit.edu	37	1	26131722	26131722	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:26131722C>T	ENST00000361547.2	+	4	548	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SEPN1_ENST00000374315.1_Silent_p.L131L|SEPN1_ENST00000354177.4_Silent_p.L131L	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	165						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCAGCCTCTGCTCCCGGA	0.592000													16	35					0	0	0.004990	0	0
SALL1	6299	broad.mit.edu	37	16	51174880	51174880	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:51174880G>A	ENST00000440970.1	-	2	1393	c.962C>T	c.(961-963)tCc>tTc	p.S321F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S418F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	418					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCAGACAAGGAGTTTAAATC	0.493000													43	66					0	0	0.003610	0	0
DUPD1	338599	broad.mit.edu	37	10	76797702	76797702	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:76797702C>T	ENST00000338487.5	-	3	554	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCCCGGTTCGGGAGGACGC	0.652000													20	14					0	0	0.002299	0	0
EVA1A	84141	broad.mit.edu	37	2	75720659	75720659	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:75720659C>T	ENST00000233712.1	-	4	599	c.162G>A	c.(160-162)gtG>gtA	p.V54V	EVA1A_ENST00000410010.1_Silent_p.V42V|EVA1A_ENST00000410071.1_Silent_p.V54V|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Silent_p.V54V|EVA1A_ENST00000393913.3_Silent_p.V54V	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		AGATCCTTATCACCAGAGCAG	0.577000													10	23					0	0	0.008291	0	0
OR51A7	119687	broad.mit.edu	37	11	4928737	4928737	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4928737C>T	ENST00000359350.4	+	1	138	c.138C>T	c.(136-138)ctC>ctT	p.L46L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCACCATTCTCTTTATTATAA	0.498000													31	10					0	0	0.001786	0	0
KNDC1	85442	broad.mit.edu	37	10	135000048	135000048	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:135000048C>T	ENST00000304613.3	+	6	1217	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	KNDC1_ENST00000368572.2_Missense_Mutation_p.S399L|KNDC1_ENST00000368571.2_Missense_Mutation_p.S334L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	399					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAGACTTCACACCCCAGC	0.672000													10	17					0	0	0.006214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719043	50719043	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50719043G>A	ENST00000449103.1	-	25	4190	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_ENST00000359337.4_Silent_p.F1350F			O15031	PLXB2_HUMAN	plexin B2	1350					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)		GCAGGGACGCGAAGTAGACCT	0.642000													22	37					0	0	0.002299	0	0
ELF5	2001	broad.mit.edu	37	11	34502410	34502410	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:34502410G>A	ENST00000312319.2	-	6	839	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ELF5_ENST00000429939.2_Missense_Mutation_p.R99W|ELF5_ENST00000257832.2_Missense_Mutation_p.R194W	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	204					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTAACCACCCGAAAAATTCCT	0.428000													23	19					0	0	0.002780	0	0
RNF213	57674	broad.mit.edu	37	17	78350260	78350260	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78350260C>T	ENST00000582970.1	+	52	13488	c.13345C>T	c.(13345-13347)Cat>Tat	p.H4449Y	RNF213_ENST00000336301.6_Missense_Mutation_p.H2522Y|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.H4498Y|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATGGCCATTCATGCTGCAGC	0.542000													19	44					0	0	0.008871	0	0
IFT140	9742	broad.mit.edu	37	16	1642239	1642239	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1642239G>A	ENST00000426508.2	-	6	935	c.572C>T	c.(571-573)tCt>tTt	p.S191F	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	191										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAAACTTCCAGAACTGCTCTT	0.512000													29	41					0	0	0.008361	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000355180.3_Silent_p.I179I|TRPC7_ENST00000426057.2_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000													40	99					0	0	0.007835	0	0
DNAH7	56171	broad.mit.edu	37	2	196722428	196722428	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196722428G>A	ENST00000312428.6	-	44	8187	c.8087C>T	c.(8086-8088)tCc>tTc	p.S2696F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2696	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTCTTCATGGATTTTACCAC	0.358000													10	12					0	0	0.001368	0	0
TOX2	84969	broad.mit.edu	37	20	42694485	42694485	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:42694485G>T	ENST00000358131.5	+	6	1248	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	TOX2_ENST00000435864.2_Missense_Mutation_p.R243L|TOX2_ENST00000341197.3_Missense_Mutation_p.R365L|TOX2_ENST00000423191.1_Missense_Mutation_p.R323L|TOX2_ENST00000372999.1_Missense_Mutation_p.R323L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGCCTTCCGCAGTGGGGCC	0.697000													19	65					1.28384e-07	1.53613e-07	0.001882	1	0
EYS	346007	broad.mit.edu	37	6	66112428	66112428	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:66112428G>A	ENST00000503581.1	-	7	1664	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	EYS_ENST00000342421.5_Missense_Mutation_p.S376L|EYS_ENST00000370621.3_Missense_Mutation_p.S376L|EYS_ENST00000393380.2_Missense_Mutation_p.S376L|EYS_ENST00000370618.3_Missense_Mutation_p.S376L|EYS_ENST00000370616.2_Missense_Mutation_p.S376L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	376	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S376L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAAGGAAATGACTCACATGA	0.284000													27	19					0	0	0.006320	0	0
HLX	3142	broad.mit.edu	37	1	221057727	221057727	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:221057727C>T	ENST00000366903.6	+	4	2649	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	HLX_ENST00000549319.1_Missense_Mutation_p.S169F	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	383	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GACTCCGAGTCCCTGGACATG	0.642000													16	29					0	0	0.007413	0	0
KIF16B	55614	broad.mit.edu	37	20	16360169	16360169	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:16360169G>A	ENST00000354981.2	-	19	2635	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F	KIF16B_ENST00000355755.3_Silent_p.F826F|KIF16B_ENST00000408042.1_Silent_p.F826F|KIF16B_ENST00000378003.2_Silent_p.F52F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	826	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTGAATTCGAAGAAACGCA	0.507000													12	41					0	0	0.000978	0	0
GFRAL	389400	broad.mit.edu	37	6	55216050	55216050	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55216050G>A	ENST00000340465.2	+	5	456		c.e5-1			NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like							integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGCTTTCAGGATTCAAAGG	0.433000													49	87					0	0	0.003610	0	0
MED24	9862	broad.mit.edu	37	17	38183151	38183151	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:38183151G>A	ENST00000394126.1	-	16	2160	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	MED24_ENST00000394127.2_Missense_Mutation_p.S543F|MED24_ENST00000394128.2_Missense_Mutation_p.S556F|MED24_ENST00000501516.3_Missense_Mutation_p.S575F|MED24_ENST00000356271.3_Missense_Mutation_p.S543F			O75448	MED24_HUMAN	mediator complex subunit 24	556					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGCCACCAGGGACTCCACTTT	0.642000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	21					0	0	0.002450	0	0
ANK3	288	broad.mit.edu	37	10	61894123	61894123	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61894123G>A	ENST00000280772.1	-	25	2938	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ANK3_ENST00000503366.1_Missense_Mutation_p.S917F|ANK3_ENST00000373827.2_Missense_Mutation_p.S910F|ANK3_ENST00000355288.2_Missense_Mutation_p.S50F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	916					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAACTGAAGGAGCGGAGGCT	0.418000													10	7					0	0	0.000978	0	0
CXorf22	170063	broad.mit.edu	37	X	35944275	35944275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:35944275C>T	ENST00000297866.5	+	2	457	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	131										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGAAATTCCTCTAATTGG	0.318000													3	17					0	0	0.004672	0	0
PCYT1B	9468	broad.mit.edu	37	X	24580541	24580541	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:24580541T>A	ENST00000379145.1	-	8	969	c.925A>T	c.(925-927)Agc>Tgc	p.S309C	PCYT1B_ENST00000356768.4_Intron|PCYT1B_ENST00000379144.2_Missense_Mutation_p.S327C|PCYT1B_ENST00000492876.1_Intron	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	327						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGGGACCGGCTCCGGGTTGGG	0.592000													8	14					0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032069	10032069	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:10032069C>T	ENST00000396573.2	-	4	1063	c.754G>A	c.(754-756)Gat>Aat	p.D252N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D252N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D252N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D95N|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D252N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D252N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	252					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D252N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGAAGAAATCATACCCGGTG	0.517000													12	22					0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13841876	13841876	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13841876C>T	ENST00000265104.4	-	33	5513	c.5409G>A	c.(5407-5409)gtG>gtA	p.V1803V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1803	Stem (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)					CCTGGCGAATCACAAGATGCA	0.413000									Kartagener syndrome				17	20					0	0	0.004007	0	0
STAT4	6775	broad.mit.edu	37	2	191905875	191905875	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:191905875C>T	ENST00000392320.2	-	15	1566		c.e15-1		STAT4_ENST00000470708.1_Splice_Site|STAT4_ENST00000358470.4_Splice_Site	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4						JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.?(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTGACAGCCCTAAGGAAGAG	0.328000													13	39					0	0	0.001368	0	0
FTCD	10841	broad.mit.edu	37	21	47574192	47574192	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:47574192C>T	ENST00000397748.1	-	2	152	c.109G>A	c.(109-111)Gat>Aat	p.D37N	FTCD_ENST00000355384.2_Missense_Mutation_p.D37N|FTCD_ENST00000359679.2_Missense_Mutation_p.D37N|FTCD_ENST00000291670.5_Missense_Mutation_p.D37N|FTCD_ENST00000397743.1_Missense_Mutation_p.D37N|FTCD_ENST00000397746.3_Missense_Mutation_p.D37N|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	37	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGTCCACATCCAGCAGCACG	0.672000													6	12					0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124390770C>T	ENST00000368909.3	+	46	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1978C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1978	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGTAATCATCGTGAAGATGC	0.542000													27	41					0	0	0.001786	0	0
CILP2	148113	broad.mit.edu	37	19	19655723	19655723	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19655723G>A	ENST00000586018.1	+	8	2489	c.2387G>A	c.(2386-2388)gGc>gAc	p.G796D	CILP2_ENST00000291495.4_Missense_Mutation_p.G790D			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	790						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCCAATGGCGCCTGCCTC	0.741000													3	10					0	0	0.000602	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126630	100126630	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:100126630G>A	ENST00000330710.5	+	5	1487	c.1389G>A	c.(1387-1389)ccG>ccA	p.P463P	HHIPL1_ENST00000357223.2_Silent_p.P463P	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	463					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACTTGCTGCCGATTTTCGCCT	0.627000													12	24					0	0	0.001855	0	0
ABCA4	24	broad.mit.edu	37	1	94502345	94502345	+	Splice_Site	SNP	C	C	T	rs62645955		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:94502345C>T	ENST00000370225.3	-	26	3900		c.e26-1			NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAAAAATCTGTCAAGAAG	0.428000													26	50					0	0	0.006320	0	0
SPOPL	339745	broad.mit.edu	37	2	139307791	139307791	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:139307791C>T	ENST00000280098.4	+	2	384	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	2						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GTGGTGATGTCTCGGGAACCC	0.423000													11	22					0	0	0.002450	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55890037C>T	ENST00000313472.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000													63	42					0	0	0.003610	0	0
DTX1	1840	broad.mit.edu	37	12	113532915	113532915	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:113532915G>A	ENST00000257600.3	+	7	1958	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	485					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCGCCTGGGAAGATGGAGT	0.642000													12	30					0	0	0.000978	0	0
MYH11	4629	broad.mit.edu	37	16	15932025	15932025	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:15932025C>T	ENST00000338282.6	-	2	191	c.85G>A	c.(85-87)Gac>Aac	p.D29N	MYH11_ENST00000300036.5_Missense_Mutation_p.D29N|MYH11_ENST00000452625.2_Missense_Mutation_p.D29N|MYH11_ENST00000576790.1_Missense_Mutation_p.D29N|MYH11_ENST00000396324.3_Missense_Mutation_p.D29N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	29	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGGCCCAGTCAGCCTGGGCC	0.582000			T	CBFB	AML								31	48					0	0	0.002096	0	0
TBX5	6910	broad.mit.edu	37	12	114793375	114793375	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:114793375C>T	ENST00000310346.4	-	9	2185	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	TBX5_ENST00000405440.2_Missense_Mutation_p.G507R|TBX5_ENST00000349716.5_Missense_Mutation_p.G457R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	507				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATGCCAACTCCGTGCACAGAG	0.547000													6	29					0	0	0.001168	0	0
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43913094G>A	ENST00000291536.3	-	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507000													55	52					0	0	0.003610	0	0
GPR128	84873	broad.mit.edu	37	3	100387893	100387893	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:100387893G>A	ENST00000273352.3	+	15	2348	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	GPR128_ENST00000475887.1_Missense_Mutation_p.D399N|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	694					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCTAGTTAATGATGATAGCAT	0.398000													17	29					0	0	0.004990	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215685	8215685	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:8215685C>T	ENST00000361926.3	+	2	438	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672000													36	48					0	0	0.005524	0	0
OR2H2	7932	broad.mit.edu	37	6	29556430	29556430	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29556430G>A	ENST00000383640.2	+	1	748	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAAGCTTTTGGGACCTGCTC	0.532000													16	48					0	0	0.008871	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455437	62455437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:62455437G>A	ENST00000317449.4	-	2	1021	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	182						integral to membrane				cervix(1)|kidney(1)	2						CGGCTGCAAGGCCCGAAGGCA	0.721000													5	0					0	0	0.000602	0	0
PIM3	415116	broad.mit.edu	37	22	50355388	50355388	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:50355388C>T	ENST00000360612.4	+	4	980	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	182	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GACCTGCGCTCCGGAGAGCTC	0.652000													11	21					0	0	0.001368	0	0
KIF17	57576	broad.mit.edu	37	1	21014191	21014191	+	Missense_Mutation	SNP	G	G	A	rs140327262		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:21014191G>A	ENST00000247986.2	-	8	1938	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	KIF17_ENST00000400463.3_Missense_Mutation_p.S543L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.S443L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	543					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTCGAGCGAGGATGACTC	0.572000													14	31					0	0	0.002450	0	0
APOH	350	broad.mit.edu	37	17	64208268	64208268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:64208268C>T	ENST00000205948.6	-	8	1058	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	341	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGCTTTACATCGGATGCATCA	0.343000													8	21					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78804140	78804140	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:78804140G>A	ENST00000545128.1	+	19	3048		c.e19+1		PCSK5_ENST00000376752.4_Splice_Site	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCTGCAAAAAGTAAGTGGATC	0.403000													27	28					0	0	0.007291	0	0
PCDH18	54510	broad.mit.edu	37	4	138451272	138451272	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:138451272G>A	ENST00000344876.4	-	1	2357	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.I657I|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I437I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	657	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTCCTGAATGATAACTGACA	0.423000													60	60					0	0	0.003610	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449693	91449693	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:91449693C>T	ENST00000360468.3	+	5	819	c.801C>T	c.(799-801)ctC>ctT	p.L267L	MAN2A2_ENST00000559717.1_Silent_p.L267L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	267					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGACCAGCTCATCGAAGGAC	0.577000													116	179					0	0	0.003610	0	0
GAGE10	643832	broad.mit.edu	37	X	49161411	49161411	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:49161411C>T	ENST00000407599.3	+	2	166	c.73C>T	c.(73-75)Cct>Tct	p.P25S		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	25										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AATGATTGGGCCTATGCTGGT	0.398000													35	168					0	0	0.006230	0	0
TRPM6	140803	broad.mit.edu	37	9	77407656	77407656	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:77407656C>T	ENST00000451710.3	-	19	2659	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	TRPM6_ENST00000360774.1_Missense_Mutation_p.E808K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E803K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E808K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E803K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	808					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGTTTCTCATCATGGCCC	0.383000													5	29					0	0	0.000602	0	0
MARK1	4139	broad.mit.edu	37	1	220835350	220835350	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:220835350C>T	ENST00000402574.1	+	17	2782	c.1780C>T	c.(1780-1782)Cat>Tat	p.H594Y	MARK1_ENST00000366918.4_Missense_Mutation_p.H707Y|MARK1_ENST00000366917.4_Missense_Mutation_p.H744Y	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	744					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTCTGTGTCCATGGAGACGC	0.438000													19	46					0	0	0.001523	0	0
OTOGL	283310	broad.mit.edu	37	12	80733024	80733024	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:80733024C>T	ENST00000458043.2	+	42	5009	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1656F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACTTGTCATCCTACACAGAA	0.353000													55	86					0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566849	45566849	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:45566849G>A	ENST00000588982.1	-	3	1131	c.630C>T	c.(628-630)tcC>tcT	p.S210S	ZBTB7C_ENST00000586438.1_Silent_p.S210S|ZBTB7C_ENST00000590800.1_Silent_p.S210S|ZBTB7C_ENST00000332053.2_Silent_p.S210S|ZBTB7C_ENST00000535628.2_Silent_p.S210S			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	210						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGCCTGGAAGGAGTCAGGGA	0.587000													30	23					0	0	0.008361	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766714	19766714	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19766714G>A	ENST00000357324.6	-	9	1268	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V	ATP13A1_ENST00000291503.5_Silent_p.V296V	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	414					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGTCCGCAGGACGTAGGCCA	0.652000													4	5					0	0	0.000602	0	0
NPTXR	23467	broad.mit.edu	37	22	39219155	39219155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:39219155G>A	ENST00000333039.2	-	4	1334	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	404	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTTCTCACCGGAGCCCTGCAG	0.617000													23	47					0	0	0.005443	0	0
GAB3	139716	broad.mit.edu	37	X	153944592	153944592	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153944592G>A	ENST00000369575.3	-	2	116	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	GAB3_ENST00000424127.2_Missense_Mutation_p.R29C|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	29	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAAACCAGCGCTTGCGCCAG	0.537000													9	22					0	0	0.006214	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:49660530C>T	ENST00000339139.4	-	10	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000													23	24					0	0	0.003330	0	0
NOS1	4842	broad.mit.edu	37	12	117703256	117703256	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:117703256C>T	ENST00000317775.6	-	12	2686	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.M667I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	667					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCATTCTCCATGTGCTTAA	0.597000													5	6					0	0	0.001168	0	0
TMEM143	55260	broad.mit.edu	37	19	48863344	48863344	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:48863344G>A	ENST00000293261.3	-	3	670	c.354C>T	c.(352-354)atC>atT	p.I118I	TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Silent_p.I118I	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	118						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCGGGCCAGGATTTGGTGGT	0.592000													19	34					0	0	0.008871	0	0
PRSS12	8492	broad.mit.edu	37	4	119256633	119256633	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:119256633G>A	ENST00000296498.3	-	3	1097	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	272						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTTACCATGGGAAAAGCTACA	0.378000													7	19					0	0	0.003080	0	0
PSG2	5670	broad.mit.edu	37	19	43570732	43570732	+	Missense_Mutation	SNP	G	G	A	rs1142259		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43570732G>A	ENST00000406487.1	-	5	1083	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	329					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGGAGAGGAAGAAGTCCTATT	0.413000													20	44					0	0	0.008871	0	0
PLTP	5360	broad.mit.edu	37	20	44538677	44538677	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:44538677G>A	ENST00000542937.1	-	3	827	c.293C>T	c.(292-294)tCc>tTc	p.S98F	PLTP_ENST00000372420.1_5'UTR|PLTP_ENST00000354050.4_Missense_Mutation_p.S78F|PLTP_ENST00000372431.3_Missense_Mutation_p.S78F|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.S78F			P55058	PLTP_HUMAN	phospholipid transfer protein	78					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				ATCGAGCTCGGAAGATGTCAG	0.547000													31	14					0	0	0.007291	0	0
NR3C1	2908	broad.mit.edu	37	5	142689733	142689733	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:142689733T>G	ENST00000343796.2	-	4	2390	c.1397A>C	c.(1396-1398)gAt>gCt	p.D466A	NR3C1_ENST00000424646.2_Missense_Mutation_p.D440A|NR3C1_ENST00000416954.2_Missense_Mutation_p.D69A|NR3C1_ENST00000503201.1_Missense_Mutation_p.D466A|NR3C1_ENST00000394466.2_Missense_Mutation_p.D467A|NR3C1_ENST00000231509.3_Missense_Mutation_p.D467A|NR3C1_ENST00000415690.2_Missense_Mutation_p.D466A|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394464.2_Missense_Mutation_p.D466A|NR3C1_ENST00000504572.1_Missense_Mutation_p.D467A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	466					chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TCGAATTTTATCGATGATGCA	0.358000													17	19					0	0	0.004990	0	0
SCN5A	6331	broad.mit.edu	37	3	38646230	38646230	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:38646230G>C	ENST00000413689.1	-	11	1701	c.1508C>G	c.(1507-1509)cCc>cGc	p.P503R	SCN5A_ENST00000414099.2_Missense_Mutation_p.P503R|SCN5A_ENST00000333535.4_Missense_Mutation_p.P503R|SCN5A_ENST00000450102.2_Missense_Mutation_p.P503R|SCN5A_ENST00000449557.2_Missense_Mutation_p.P503R|SCN5A_ENST00000443581.1_Missense_Mutation_p.P503R|SCN5A_ENST00000425664.1_Missense_Mutation_p.P503R|SCN5A_ENST00000451551.2_Missense_Mutation_p.P503R|SCN5A_ENST00000423572.2_Missense_Mutation_p.P503R|SCN5A_ENST00000455624.2_Missense_Mutation_p.P503R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	503					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATTGCTCTGGGACCATCTTC	0.532000													9	9					0	0	0.006214	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012188	160012188	+	Silent	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160012188G>T	ENST00000368089.3	-	2	361	c.135C>A	c.(133-135)gcC>gcA	p.A45A		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	45						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGCTTGTCGGCAATGTGCT	0.557000													43	98					8.00217e-19	9.66767e-19	0.003610	1	0
DSCAM	1826	broad.mit.edu	37	21	41446981	41446981	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:41446981C>T	ENST00000400454.1	-	27	5348	c.4871G>A	c.(4870-4872)aGg>aAg	p.R1624K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1624					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)				CCTCTTTAGCCTCTGCTCCCG	0.617000													3	17					0	0	0.004672	0	0
CNGA3	1261	broad.mit.edu	37	2	99008427	99008427	+	Missense_Mutation	SNP	C	C	T	rs138958917		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:99008427C>T	ENST00000393504.1	+	7	1084	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	CNGA3_ENST00000436404.2_Missense_Mutation_p.R205W|CNGA3_ENST00000409937.1_Missense_Mutation_p.R227W|CNGA3_ENST00000272602.2_Missense_Mutation_p.R223W	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	223			R -> W (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGTACGAGCTCGGACAGGTGA	0.602000													20	16					0	0	0.002299	0	0
CGNL1	84952	broad.mit.edu	37	15	57731779	57731779	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:57731779C>T	ENST00000281282.5	+	2	1660	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	528	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAGACATTTCCTTCGGCCTC	0.453000													10	16					0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75086497	75086497	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75086497G>A	ENST00000326665.5	-	8	1139	c.921C>T	c.(919-921)ttC>ttT	p.F307F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.F110F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	307										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCATCCCGGAAGTCAGGAT	0.358000													28	24					0	0	0.007291	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138946	22138946	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:22138946G>A	ENST00000356766.6	+	4	491	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E115K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E115K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	115					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGACAGGGAGGAACTCTCTCC	0.507000													24	67					0	0	0.003954	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725643	129725643	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:129725643G>A	ENST00000281441.3	+	4	514	c.426G>A	c.(424-426)ctG>ctA	p.L142L	TMEM45B_ENST00000524567.1_Silent_p.L142L	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	142						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGCCTCCGCTGGACCAGCACA	0.542000													23	21					0	0	0.002780	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374038	37374038	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:37374038G>A	ENST00000233057.4	-	4	520	c.198C>T	c.(196-198)gcC>gcT	p.A66A	EIF2AK2_ENST00000395127.2_Silent_p.A66A|EIF2AK2_ENST00000405334.1_Silent_p.A66A	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	66	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATTTGGCTGCGGCATTTTTTG	0.333000													11	30					0	0	0.001368	0	0
PADI6	353238	broad.mit.edu	37	1	17727763	17727763	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:17727763G>A	ENST00000434762.2	+	0	1965							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCAAATCAAGGGGACCTGCT	0.542000													28	32					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179586847	179586847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179586847G>A	ENST00000589042.1	-	78	22767	c.22543C>T	c.(22543-22545)Ccc>Tcc	p.P7515S	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7198S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P6271S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7198	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAAGAAGGGAGATTTCTTG	0.388000													57	87					0	0	0.003610	0	0
WRNIP1	56897	broad.mit.edu	37	6	2766621	2766621	+	Silent	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:2766621C>G	ENST00000380769.4	+	1	336	c.105C>G	c.(103-105)ctC>ctG	p.L35L	WRNIP1_ENST00000380773.4_Silent_p.L255L|WRNIP1_ENST00000380771.4_Silent_p.L255L			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	255					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGCTCGCTCCTGGAGACCA	0.652000													4	2					0	0	0.000602	0	0
IFNA7	3444	broad.mit.edu	37	9	21201913	21201913	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:21201913G>A	ENST00000239347.3	-	1	291	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	84					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTCTGCTGGATCATCTCAT	0.478000													37	21					0	0	0.007835	0	0
WDR78	79819	broad.mit.edu	37	1	67313257	67313257	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:67313257G>A	ENST00000371026.3	-	8	1256	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	WDR78_ENST00000431318.1_Missense_Mutation_p.H147Y|WDR78_ENST00000371023.3_Missense_Mutation_p.H401Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	401										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AAGTCCTGATGAAATTTGTCA	0.333000													13	21					0	0	0.002450	0	0
KRT4	3851	broad.mit.edu	37	12	53202184	53202184	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53202184G>A	ENST00000293774.4	-	6	1511	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	KRT4_ENST00000551956.1_Missense_Mutation_p.S340L|KRT4_ENST00000458244.2_Missense_Mutation_p.S320L			B4DRS2	B4DRS2_HUMAN	keratin 4	340						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TTGGTCAACCGAGATCTGGAG	0.493000													8	31					0	0	0.003080	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645854	8645854	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:8645854G>A	ENST00000270328.4	-	25	3501	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P1079S|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.P566S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1079	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCACCAGGGGGCAGTAGGCG	0.617000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0.003080	0	0
DMD	1756	broad.mit.edu	37	X	32662369	32662369	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:32662369C>T	ENST00000357033.4	-	11	1417	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	DMD_ENST00000288447.4_Missense_Mutation_p.S396N|DMD_ENST00000378677.2_Missense_Mutation_p.S400N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	404					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCAGCTTACTTCCCAATTG	0.403000													14	42					0	0	0.004990	0	0
MEIG1	644890	broad.mit.edu	37	10	15008576	15008576	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:15008576G>A	ENST00000407572.1	+	2	257	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	MEIG1_ENST00000378240.1_Missense_Mutation_p.E37K	NM_001080836.2	NP_001074305.1	Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	37										kidney(1)|ovary(1)|prostate(1)	3						GGATGAAACCGAATATAGACA	0.338000													5	22					0	0	0.001168	0	0
ATP1A3	478	broad.mit.edu	37	19	42492102	42492102	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42492102G>A	ENST00000545399.1	-	4	535	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	ATP1A3_ENST00000602133.1_Missense_Mutation_p.P85S|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P126S|ATP1A3_ENST00000302102.5_Missense_Mutation_p.P115S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	115					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCACCAGAGGGGTCGTCCTCG	0.602000													29	51					0	0	0.008361	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962048	10962048	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:10962048G>A	ENST00000240691.2	-	1	719	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	209					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATCTGCTTGGTGTGTCTAA	0.478000													6	26					0	0	0.001984	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861614	27861614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:27861614C>T	ENST00000303806.4	+	1	412	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	125					nucleosome assembly	nucleosome|nucleus	DNA binding										TACACCAGCTCCAAGTGAGCT	0.597000													14	37					0	0	0.002450	0	0
ATP2B4	493	broad.mit.edu	37	1	203689771	203689771	+	Missense_Mutation	SNP	G	G	A	rs147313187		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:203689771G>A	ENST00000357681.5	+	16	3624	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R834Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R834Q|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R822Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R834Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	834					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGTGGGGACGAAATGTCTAT	0.512000													11	39					0	0	0.008291	0	0
LARP1	23367	broad.mit.edu	37	5	154185574	154185574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154185574C>T	ENST00000336314.4	+	15	2473	c.2449C>T	c.(2449-2451)Cgt>Tgt	p.R817C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	894							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCATAAGTATCGTAGGCGCTG	0.512000													34	58					0	0	0.006230	0	0
NABP1	64859	broad.mit.edu	37	2	192550393	192550393	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:192550393C>T	ENST00000410026.1	+	6	529	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	NABP1_ENST00000409510.1_Missense_Mutation_p.R92W|NABP1_ENST00000425611.2_Missense_Mutation_p.R172W	NM_001031716.2|NM_001254736.1	NP_001026886.1|NP_001241665.1			nucleic acid binding protein 1																		AAGCAATGGCCGGGGACTTAT	0.418000													5	14					0	0	0.000602	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:28914104G>A	ENST00000257192.4	+	8	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	315	Cadherin 3.				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)			GGAAATGAAGGAAATTGGTTT	0.299000													9	58					0	0	0.004482	0	0
ZYX	7791	broad.mit.edu	37	7	143080384	143080384	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:143080384C>T	ENST00000322764.5	+	5	1337	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ZYX_ENST00000392910.2_Missense_Mutation_p.P174L|ZYX_ENST00000449423.2_Missense_Mutation_p.P244L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	331					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGCAGCACCCCGTGCCCCCA	0.642000													8	14					0	0	0.006214	0	0
AKAP3	10566	broad.mit.edu	37	12	4736484	4736484	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:4736484G>A	ENST00000545990.2	-	5	2108	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	AKAP3_ENST00000228850.1_Silent_p.I528I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	528					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGCAGACACGATCAGGTCCT	0.517000													7	17					0	0	0.003080	0	0
PLA1A	51365	broad.mit.edu	37	3	119325753	119325753	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:119325753G>A	ENST00000273371.4	+	2	278	c.206G>A	c.(205-207)gGa>gAa	p.G69E	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.G69E|PLA1A_ENST00000494440.1_Missense_Mutation_p.G53E	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	69					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAGTAGAAGGAAGCAGTGAC	0.478000													63	68					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54305795	54305795	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54305795C>T	ENST00000545554.1	+	1	695	c.695C>T	c.(694-696)tCc>tTc	p.S232F	UNC13C_ENST00000260323.11_Missense_Mutation_p.S232F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S232F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	232					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGTTCAGTTCCTCTGGCTGC	0.433000													22	34					0	0	0.001882	0	0
FAM135B	51059	broad.mit.edu	37	8	139163736	139163736	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:139163736A>T	ENST00000395297.1	-	13	3152	c.2982T>A	c.(2980-2982)caT>caA	p.H994Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	994										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACCTGGGAATGAACGGAAT	0.502000										HNSCC(54;0.14)			14	21					0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617253	77617253	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77617253G>A	ENST00000521891.2	+	2	1378	c.930G>A	c.(928-930)caG>caA	p.Q310Q	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.Q310Q|ZFHX4_ENST00000455469.2_Silent_p.Q310Q|ZFHX4_ENST00000518282.1_Silent_p.Q310Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	310						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGAGGAGCAGAAGCTCCTCA	0.413000										HNSCC(33;0.089)			31	36					0	0	0.002445	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643591	37643591	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37643591G>A	ENST00000356958.4	-	5	1468	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H349Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H349Y|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCTGTATGAATTCTCTGA	0.408000													23	28					0	0	0.003954	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555992	138555992	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:138555992G>A	ENST00000440172.1	-	13	4510	c.4462C>T	c.(4462-4464)Ctt>Ttt	p.L1488F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.L1488F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.L1438F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1488						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGGCGATAAGCTGGATCTTA	0.602000			O	BRAF	pilocytic astrocytoma								17	35					0	0	0.004990	0	0
LCE1D	353134	broad.mit.edu	37	1	152770349	152770349	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152770349C>T	ENST00000326233.6	+	2	122	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	27	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgcCCCGCCCCTAAATGTCC	0.647000													25	3					0	0	0.003330	0	0
MYLK3	91807	broad.mit.edu	37	16	46744674	46744674	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:46744674C>T	ENST00000394809.4	-	11	2257	c.2142G>A	c.(2140-2142)ggG>ggA	p.G714G	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Silent_p.G373G	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	714	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCTGTTTCCCCTAGAAATG	0.468000													55	26					0	0	0.003610	0	0
LPPR2	64748	broad.mit.edu	37	19	11470278	11470278	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:11470278C>T	ENST00000251473.5	+	4	513	c.137C>T	c.(136-138)aCc>aTc	p.T46I	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCTGTGCACACCCAGGGATTC	0.617000													15	25					0	0	0.003163	0	0
ACSL3	2181	broad.mit.edu	37	2	223773608	223773608	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:223773608C>T	ENST00000357430.3	+	4	649	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ACSL3_ENST00000392066.3_Missense_Mutation_p.P40S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	40					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AACATACATTCCGTTTTATTT	0.289000			T	ETV1	prostate								14	31					0	0	0.001855	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282917	154282917	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:154282917C>T	ENST00000369498.3	+	5	794	c.540C>T	c.(538-540)ttC>ttT	p.F180F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	180						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGATTTTTCGGAGGCTTTC	0.418000													16	84					0	0	0.001523	0	0
EYA4	2070	broad.mit.edu	37	6	133802709	133802709	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:133802709C>T	ENST00000367895.5	+	12	1543	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	EYA4_ENST00000452339.2_Missense_Mutation_p.P306L|EYA4_ENST00000431403.2_Missense_Mutation_p.P360L|EYA4_ENST00000355167.3_Missense_Mutation_p.P360L|EYA4_ENST00000430974.2_Missense_Mutation_p.P312L|EYA4_ENST00000531901.1_Missense_Mutation_p.P366L|EYA4_ENST00000355286.6_Missense_Mutation_p.P337L|EYA4_ENST00000525849.1_Missense_Mutation_p.P337L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	360					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAAAATAATCCCTCCCCGCCT	0.448000													34	16					0	0	0.006230	0	0
DNAL1	83544	broad.mit.edu	37	14	74154009	74154009	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:74154009T>A	ENST00000553645.1	+	6	353	c.312T>A	c.(310-312)ttT>ttA	p.F104L	DNAL1_ENST00000554871.1_Missense_Mutation_p.F65L|DNAL1_ENST00000554339.1_Missense_Mutation_p.F17L|DNAL1_ENST00000540526.1_Missense_Mutation_p.F65L|DNAL1_ENST00000311089.3_5'UTR	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	104										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CCTACAATTTTATTGAGAAGT	0.363000													11	33					0	0	0.001368	0	0
LILRB4	11006	broad.mit.edu	37	19	55179348	55179348	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55179348G>A	ENST00000391736.1	+	14	1540	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	LILRB4_ENST00000391733.3_Missense_Mutation_p.D410N|LILRB4_ENST00000391734.3_Missense_Mutation_p.D356N|LILRB4_ENST00000430952.2_Missense_Mutation_p.D408N|LILRB4_ENST00000270452.2_Missense_Mutation_p.D409N	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	409						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCCCCCAGGATGTGACCTA	0.637000													23	40					0	0	0.006320	0	0
CNGA1	1259	broad.mit.edu	37	4	47951898	47951898	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:47951898G>T	ENST00000402813.3	-	5	600	c.458C>A	c.(457-459)cCt>cAt	p.P153H	CNGA1_ENST00000514170.1_Missense_Mutation_p.P84H|CNGA1_ENST00000358519.4_Missense_Mutation_p.P84H|CNGA1_ENST00000420489.2_Missense_Mutation_p.P84H|CNGA1_ENST00000544810.1_Missense_Mutation_p.P84H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	84					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AATGGCACCAGGCAGGTACTG	0.373000													6	27					5.18039e-06	6.17984e-06	0.003080	1	0
TRHDE	29953	broad.mit.edu	37	12	72962383	72962383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:72962383G>A	ENST00000261180.4	+	10	2039	c.1943G>A	c.(1942-1944)gGa>gAa	p.G648E	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	648					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTGTGGTAGGAAATAGAAGC	0.318000													6	23					0	0	0.006214	0	0
HLA-G	3135	broad.mit.edu	37	6	29797630	29797630	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:29797630C>T	ENST00000428701.1	+	6	1111	c.933C>T	c.(931-933)atC>atT	p.I311I	HLA-G_ENST00000376818.3_Silent_p.I219I|HLA-G_ENST00000360323.6_Silent_p.I311I|HLA-G_ENST00000376815.3_Silent_p.I127I|HLA-G_ENST00000376828.2_Silent_p.I316I	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	311					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCATGGGTATCGTTGCTGGCC	0.582000													20	52					0	0	0.007413	0	0
IGFL2	147920	broad.mit.edu	37	19	46664004	46664004	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:46664004C>T	ENST00000434646.2	+	4	531	c.240C>T	c.(238-240)ccC>ccT	p.P80P	IGFL2_ENST00000377693.4_Silent_p.P69P|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	69						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GTGGTCCCCCCTGCACCTTCT	0.547000													75	115					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130285597	130285597	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:130285597G>A	ENST00000358511.6	+	4	1365	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G445E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	445	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATGGCTCAGGGAGCACCCAG	0.488000													19	14					0	0	0.007413	0	0
SPTB	6710	broad.mit.edu	37	14	65253161	65253161	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:65253161C>T	ENST00000389722.3	-	15	3575	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	SPTB_ENST00000389721.5_Silent_p.Q1174Q|SPTB_ENST00000542895.1_Silent_p.Q1174Q|SPTB_ENST00000389720.3_Silent_p.Q1174Q|SPTB_ENST00000556626.1_Silent_p.Q1174Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1174					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGCATCTTTCTGGAACTCCT	0.617000													18	33					0	0	0.004990	0	0
GALNT1	2589	broad.mit.edu	37	18	33272216	33272216	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:33272216T>C	ENST00000269195.5	+	8	1334	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	GALNT1_ENST00000537549.1_Missense_Mutation_p.F351L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	411					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGCAAACCTTTTTCCTGGTA	0.328000													19	73					0	0	0.001882	0	0
OR2F2	135948	broad.mit.edu	37	7	143632352	143632352	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:143632352G>A	ENST00000408955.2	+	1	94	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	9					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)					AGACGTGGGTGAGAGAATTTA	0.388000													19	48					0	0	0.001882	0	0
ADAM28	10863	broad.mit.edu	37	8	24157543	24157543	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:24157543A>G	ENST00000265769.4	+	2	213	c.103A>G	c.(103-105)Aga>Gga	p.R35G	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.R35G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	35					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATCCTATAAGACTTCATCC	0.368000													12	36					0	0	0.002450	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171149	4171149	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:4171149G>A	ENST00000078445.2	+	8	1099	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	CREB3L3_ENST00000602257.1_Missense_Mutation_p.A316T|CREB3L3_ENST00000602147.1_Missense_Mutation_p.S282N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A317T|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	318					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAAGTCAGCCCAGACAGG	0.607000													11	23					0	0	0.001855	0	0
ETFB	2109	broad.mit.edu	37	19	51850297	51850297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:51850297G>A	ENST00000354232.4	-	4	3194	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Nonsense_Mutation_p.Q152*	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	152					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AGCGTCACCTGGGAGGCGAAT	0.607000													10	13					0	0	0.000978	0	0
MMP17	4326	broad.mit.edu	37	12	132325329	132325329	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:132325329T>C	ENST00000360564.1	+	4	736	c.634T>C	c.(634-636)Ttc>Ctc	p.F212L	MMP17_ENST00000535291.1_Missense_Mutation_p.F128L|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	212					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)		CCACGCCTTCTTCCCCGGCCA	0.701000													8	14					0	0	0.006214	0	0
SCN2A	6326	broad.mit.edu	37	2	166172127	166172127	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166172127G>A	ENST00000357398.3	+	11	1820	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	SCN2A_ENST00000375427.2_Silent_p.Q510Q|SCN2A_ENST00000375437.2_Silent_p.Q510Q|SCN2A_ENST00000283256.6_Silent_p.Q510Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	510					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	aaaagaaacagaaagaacagt	0.383000													9	26					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510755	110510755	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110510755C>T	ENST00000378402.5	+	66	10768	c.10664C>T	c.(10663-10665)cCt>cTt	p.P3555L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3555					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGATGATCCTAATATTGAA	0.348000										HNSCC(38;0.096)			18	19					0	0	0.002299	0	0
POLA1	5422	broad.mit.edu	37	X	24828029	24828029	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:24828029G>A	ENST00000379068.3	+	27	3022	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	POLA1_ENST00000379059.3_Silent_p.T987T			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	987					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGATGCATACGAAAGAGATGG	0.279000													4	13					0	0	0.001168	0	0
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:71804103C>T	ENST00000304411.2	+	1	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V301V(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672000													5	26					0	0	0.001168	0	0
WDR1	9948	broad.mit.edu	37	4	10117765	10117765	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:10117765C>T	ENST00000382452.2	-	2	392	c.110G>A	c.(109-111)gGa>gAa	p.G37E	WDR1_ENST00000499869.2_Missense_Mutation_p.G37E|WDR1_ENST00000382451.2_Missense_Mutation_p.G37E|WDR1_ENST00000502702.1_Missense_Mutation_p.G37E	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	37					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GACGCACTTTCCATTGGTGTA	0.592000													13	10					0	0	0.001855	0	0
GRM7	2917	broad.mit.edu	37	3	7348259	7348259	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:7348259C>T	ENST00000486284.1	+	4	1227	c.953C>T	c.(952-954)tCc>tTc	p.S318F	GRM7_ENST00000357716.4_Missense_Mutation_p.S318F|GRM7_ENST00000402647.2_Missense_Mutation_p.S318F|GRM7_ENST00000403881.1_Missense_Mutation_p.S318F|GRM7_ENST00000389336.4_Missense_Mutation_p.S318F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	318					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGGGGATCCAAAATAAAC	0.498000													26	27					0	0	0.003330	0	0
IRX1	79192	broad.mit.edu	37	5	3599742	3599742	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:3599742G>A	ENST00000302006.3	+	2	732	c.680G>A	c.(679-681)aGc>aAc	p.S227N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTGGAAAGCATCGACATT	0.647000													17	17					0	0	0.004990	0	0
PTX4	390667	broad.mit.edu	37	16	1537825	1537825	+	Silent	SNP	C	C	T	rs142629286	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1537825C>T	ENST00000447419.2	-	2	313	c.288G>A	c.(286-288)tcG>tcA	p.S96S	PTX4_ENST00000293922.1_Silent_p.S91S|PTX4_ENST00000440447.2_Silent_p.S96S			Q96A99	PTX4_HUMAN	pentraxin 4, long	96						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCCCTGCACCGAGGCCTGTG	0.662000													31	58					0	0	0.002096	0	0
TMEM244	253582	broad.mit.edu	37	6	130152523	130152523	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:130152523C>T	ENST00000438392.1	-	6	508	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	TMEM244_ENST00000368143.1_Missense_Mutation_p.E110K			Q5VVB8	CF191_HUMAN	transmembrane protein 244	110						integral to membrane											AAGGGGAATTCCAACATAACT	0.303000													11	6					0	0	0.001855	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72197010	72197010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:72197010C>A	ENST00000555818.1	+	18	5264	c.4916C>A	c.(4915-4917)tCg>tAg	p.S1639*	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S1618*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.S1093*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S1618*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1639					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAATGAAATCGCTGCATGGT	0.567000													24	19					3.65163e-15	4.39564e-15	0.006320	1	0
GPR78	27201	broad.mit.edu	37	4	8589044	8589044	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:8589044G>A	ENST00000382487.4	+	3	1463	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	349					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACCCACAACGGCTCTGTGGAC	0.632000													15	12					0	0	0.001523	0	0
ZNF546	339327	broad.mit.edu	37	19	40512005	40512005	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:40512005C>T	ENST00000347077.4	+	4	303	c.87C>T	c.(85-87)ccC>ccT	p.P29P	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.P3P	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCCCCAGCCCCGGTTTCTCT	0.418000													27	27					0	0	0.005443	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798322	140798322	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140798322G>A	ENST00000398594.2	+	1	896	c.896G>A	c.(895-897)gGa>gAa	p.G299E	PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACTACAGGAAACATTCTA	0.438000													7	11					0	0	0.001984	0	0
INO80	54617	broad.mit.edu	37	15	41372018	41372018	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:41372018G>C	ENST00000361937.3	-	9	1436	c.1012C>G	c.(1012-1014)Cgc>Ggc	p.R338G	INO80_ENST00000401393.3_Missense_Mutation_p.R338G			Q9ULG1	INO80_HUMAN	INO80 complex subunit	338	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGTGAGGCGGCGGGCACGA	0.527000													54	95					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186023034	186023034	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:186023034G>C	ENST00000271588.4	+	44	7007	c.6778G>C	c.(6778-6780)Gaa>Caa	p.E2260Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2260Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2260	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCAATTGCTGAAAAGTCTGA	0.428000													14	36					0	0	0.002450	0	0
TSGA10	80705	broad.mit.edu	37	2	99695147	99695147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:99695147G>A	ENST00000393483.3	-	12	1701	c.857C>T	c.(856-858)tCc>tTc	p.S286F	TSGA10_ENST00000355053.4_Missense_Mutation_p.S286F|TSGA10_ENST00000539964.1_Missense_Mutation_p.S286F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S286F|TSGA10_ENST00000542655.1_Missense_Mutation_p.S286F|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	286					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTCCAAGGGATGCAATATT	0.353000													10	22					0	0	0.001855	0	0
ZNF500	26048	broad.mit.edu	37	16	4815911	4815911	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:4815911C>T	ENST00000219478.6	-	2	368	c.69G>A	c.(67-69)ctG>ctA	p.L23L	ZNF500_ENST00000545009.1_Silent_p.L23L			O60304	ZN500_HUMAN	zinc finger protein 500	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCTTCACAATCAGGATCTCTT	0.607000													25	40					0	0	0.003954	0	0
SHH	6469	broad.mit.edu	37	7	155596253	155596253	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:155596253G>A	ENST00000297261.2	-	3	880	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	244					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	p.R244C(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCGTCGCGGTCCAGGAAA	0.697000													9	9					0	0	0.006214	0	0
FAM24B	196792	broad.mit.edu	37	10	124609993	124609993	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124609993G>A	ENST00000368898.3	-	3	329	c.39C>T	c.(37-39)ctC>ctT	p.L13L	FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.L13L|CUZD1_ENST00000545804.1_Intron	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	13						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTATCAGCAGGAGCAAGGCCG	0.448000													24	32					0	0	0.003330	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42117477	42117477	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:42117477C>T	ENST00000457542.2	+	31	4656	c.4370C>T	c.(4369-4371)tCa>tTa	p.S1457L	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S1180L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S1296L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S1463L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S1340L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1463										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCTTCTCTTCAGTGCGACAG	0.627000													14	33					0	0	0.003163	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821348	5821348	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:5821348G>A	ENST00000381095.3	-	5	1998	c.1371C>T	c.(1369-1371)gcC>gcT	p.A457A	NLGN4X_ENST00000275857.6_Silent_p.A457A|NLGN4X_ENST00000538097.1_Silent_p.A457A|NLGN4X_ENST00000381093.2_Silent_p.A477A|NLGN4X_ENST00000381092.1_Silent_p.A457A	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	457					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGTGCAGGTCGGCGGTGGCCA	0.617000													21	12					0	0	0.002299	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784110	24784110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:24784110C>T	ENST00000376451.2	+	3	1128	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	KIAA1217_ENST00000396445.1_Missense_Mutation_p.H290Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.H527Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.H572Y|KIAA1217_ENST00000430453.2_Missense_Mutation_p.H493Y|KIAA1217_ENST00000376454.3_Missense_Mutation_p.H607Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.H290Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.H572Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.H290Y			Q5T5P2	SKT_HUMAN	KIAA1217	607					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACAGGAACCACACAGATAG	0.423000													7	13					0	0	0.004482	0	0
GPR128	84873	broad.mit.edu	37	3	100373862	100373862	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:100373862C>T	ENST00000273352.3	+	12	1831	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	GPR128_ENST00000475887.1_Silent_p.I226I|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	521					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCATTAACATCCCGAATCCCA	0.428000													44	29					0	0	0.003610	0	0
RPTOR	57521	broad.mit.edu	37	17	78933889	78933889	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78933889G>A	ENST00000306801.3	+	30	3851	c.3489G>A	c.(3487-3489)acG>acA	p.T1163T	RPTOR_ENST00000544334.2_Silent_p.T1005T|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1163					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACATCCCTACGGGCGCAGACA	0.647000													7	16					0	0	0.004482	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020668	58020668	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:58020668C>T	ENST00000341156.4	-	11	2045	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	B4GALNT1_ENST00000418555.2_Silent_p.L432L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	487					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGCAGCTTCAGTTTGGATG	0.587000													7	16					0	0	0.004482	0	0
UNC5D	137970	broad.mit.edu	37	8	35624480	35624480	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:35624480C>T	ENST00000287272.2	+	14	2187	c.2167C>T	c.(2167-2169)Ctg>Ttg	p.L723L	UNC5D_ENST00000404895.2_Silent_p.L792L|UNC5D_ENST00000449677.1_Silent_p.L368L|UNC5D_ENST00000416672.1_Silent_p.L797L|UNC5D_ENST00000420357.1_Silent_p.L725L|UNC5D_ENST00000453357.2_Silent_p.L787L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	792					apoptosis|axon guidance	integral to membrane	receptor activity			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)		TGCCTTCTCCCTGGAGCGTTA	0.582000													22	22					0	0	0.001882	0	0
DNAH2	146754	broad.mit.edu	37	17	7674161	7674161	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7674161G>A	ENST00000572933.1	+	27	5732	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K	DNAH2_ENST00000389173.2_Silent_p.K1424K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1424	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGAGAAGGATGTGGACC	0.493000													34	73					0	0	0.004289	0	0
PCSK1	5122	broad.mit.edu	37	5	95728851	95728851	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:95728851T>A	ENST00000311106.3	-	14	2353	c.2116A>T	c.(2116-2118)Aag>Tag	p.K706*	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.K659*|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	706					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTCAGCTTTTCCAGGGCT	0.403000													35	78					0	0	0.005524	0	0
KIF15	56992	broad.mit.edu	37	3	44881882	44881882	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:44881882G>A	ENST00000326047.4	+	28	3503	c.3354G>A	c.(3352-3354)aaG>aaA	p.K1118K	KIF15_ENST00000425755.1_Silent_p.K753K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1118					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AACAGAAGAAGAATGAATATA	0.368000													25	15					0	0	0.006320	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75097441G>A	ENST00000326665.5	-	7	993	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_ENST00000420661.2_Missense_Mutation_p.R62C	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	259	Poly-Arg.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000													10	33					0	0	0.000978	0	0
NOX5	79400	broad.mit.edu	37	15	69335023	69335023	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:69335023C>T	ENST00000260364.5	+	11	1772	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Missense_Mutation_p.R463W|NOX5_ENST00000388866.3_Missense_Mutation_p.R509W|NOX5_ENST00000455873.3_Missense_Mutation_p.R474W|NOX5_ENST00000530406.2_Missense_Mutation_p.R481W			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	509	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTGCACATTCGGTCCCAAGG	0.567000													16	20					0	0	0.004007	0	0
DLG1	1739	broad.mit.edu	37	3	196771564	196771564	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:196771564T>C	ENST00000346964.2	-	26	2900	c.2711A>G	c.(2710-2712)aAc>aGc	p.N904S	DLG1_ENST00000357674.4_Missense_Mutation_p.N871S|DLG1_ENST00000419354.1_Missense_Mutation_p.N882S|DLG1_ENST00000422288.1_Missense_Mutation_p.N831S|DLG1_ENST00000450955.1_Missense_Mutation_p.N871S|DLG1_ENST00000452595.1_Missense_Mutation_p.N766S|DLG1_ENST00000443183.1_Missense_Mutation_p.N778S|DLG1_ENST00000448528.2_Missense_Mutation_p.N882S|DLG1_ENST00000392382.2_Missense_Mutation_p.N849S|DLG1_ENST00000314062.3_Missense_Mutation_p.N831S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	882					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTCACTTGGTTGTAAATGTC	0.348000													11	32					0	0	0.000978	0	0
TMEM130	222865	broad.mit.edu	37	7	98449069	98449069	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:98449069G>A	ENST00000450876.1	-	6	2044	c.729C>T	c.(727-729)taC>taT	p.Y243Y	TMEM130_ENST00000416379.2_Silent_p.Y327Y|TMEM130_ENST00000546258.1_Silent_p.Y308Y|TMEM130_ENST00000345589.4_Silent_p.Y225Y|TMEM130_ENST00000339375.4_Silent_p.Y327Y			Q8N3G9	TM130_HUMAN	transmembrane protein 130	327						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGATCTTGTGGTACTGATGTG	0.577000													17	42					0	0	0.004990	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922296	43922296	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:43922296C>T	ENST00000329196.5	+	1	41	c.24C>T	c.(22-24)ctC>ctT	p.L8L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	8						integral to membrane	aspartic-type endopeptidase activity										GCTTCCTCCTCCCCGTGGGCT	0.627000													15	22					0	0	0.007413	0	0
ADCY10	55811	broad.mit.edu	37	1	167779026	167779026	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:167779026C>T	ENST00000367848.1	-	33	4943	c.4446G>A	c.(4444-4446)acG>acA	p.T1482T	ADCY10_ENST00000367851.4_Silent_p.T1574T|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.T1421T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1574					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.T1574T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GACTCAAGATCGTCTGAAGCC	0.393000													15	47					0	0	0.004990	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441524	37441524	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:37441524T>C	ENST00000307750.4	-	2	1213	c.1025A>G	c.(1024-1026)gAa>gGa	p.E342G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ATCGCTCACTTCATCCTGAGG	0.527000													20	15					0	0	0.008871	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262784	140262784	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140262784G>A	ENST00000289272.2	+	1	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E311K|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_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)			ACTAGATTTCGAAGAAAAGAA	0.378000													27	34					0	0	0.004656	0	0
FAT4	79633	broad.mit.edu	37	4	126411517	126411517	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126411517A>G	ENST00000394329.3	+	17	13553	c.13540A>G	c.(13540-13542)Acc>Gcc	p.T4514A	FAT4_ENST00000335110.5_Missense_Mutation_p.T2755A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4514					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCTGCGCAACCGTCTTGGC	0.567000													9	30					0	0	0.000978	0	0
ZMYM4	9202	broad.mit.edu	37	1	35847216	35847216	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35847216C>T	ENST00000314607.6	+	9	1506	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	ZMYM4_ENST00000373297.2_Missense_Mutation_p.R476C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	476					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTAAGTTTCGTTCTGCTAA	0.423000													27	58					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9071324	9071324	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9071324C>T	ENST00000397910.4	-	3	16325	c.16122G>A	c.(16120-16122)gtG>gtA	p.V5374V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5376	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						CTGTGGTTGTCACCAGAACAG	0.517000													47	76					0	0	0.002852	0	0
NF1	4763	broad.mit.edu	37	17	29554566	29554566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:29554566G>A	ENST00000358273.4	+	20	2734	c.2351G>A	c.(2350-2352)tGg>tAg	p.W784*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W784*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	784			W -> C (in NF1).|W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGCAAAATGGGAACAAGCA	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	25					0	0	0.001984	0	0
FCGBP	8857	broad.mit.edu	37	19	40363205	40363205	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:40363205C>T	ENST00000221347.6	-	32	14872	c.14865G>A	c.(14863-14865)caG>caA	p.Q4955Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4955	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTGGTCGTCTGCAGAACCA	0.667000													11	17					0	0	0.000978	0	0
CRY1	1407	broad.mit.edu	37	12	107395084	107395084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:107395084G>A	ENST00000008527.5	-	5	1525	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	220	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CTTTCCAAACGAGTAAGTGCT	0.338000													16	25					0	0	0.007413	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12893453	12893453	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:12893453G>A	ENST00000379672.5	+	21	2722	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	ARHGAP44_ENST00000262444.9_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.D802N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	808					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGACAAGAGGGACTCGGAGGA	0.607000													8	10					0	0	0.003080	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407132	148407132	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:148407132G>A	ENST00000538184.1	-	7	1692	c.804C>T	c.(802-804)ctC>ctT	p.L268L	SH3TC2_ENST00000515425.1_Silent_p.L721L|SH3TC2_ENST00000394358.2_Silent_p.L606L|SH3TC2_ENST00000512049.1_Silent_p.L714L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	721	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGCCAAGGAGCTTGGTTG	0.572000													32	38					0	0	0.002836	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213564	3213564	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:3213564C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ACCACCGGCCCCATCTAACAC	0.517000													13	17					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57110896	57110896	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:57110896G>C	ENST00000454682.1	-	3	4699	c.4418C>G	c.(4417-4419)cCt>cGt	p.P1473R	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTGGGGGAAGGAGGAGTCAC	0.632000			T	BCL6	NHL								8	23					0	0	0.004482	0	0
OR6T1	219874	broad.mit.edu	37	11	123813961	123813961	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:123813961C>T	ENST00000321252.2	-	1	619	c.585G>A	c.(583-585)ctG>ctA	p.L195L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCACCAGTTTCAGCAGGTGGG	0.547000													24	11					0	0	0.004656	0	0
ADAP2	55803	broad.mit.edu	37	17	29280326	29280326	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:29280326G>A	ENST00000330889.3	+	8	1097	c.762G>A	c.(760-762)agG>agA	p.R254R	ADAP2_ENST00000580525.1_Silent_p.R260R	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	254					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCTCACCAGGAACTACCTCA	0.512000													6	17					0	0	0.003080	0	0
RIOK2	55781	broad.mit.edu	37	5	96503501	96503501	+	Missense_Mutation	SNP	C	C	T	rs112201709		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:96503501C>T	ENST00000283109.3	-	8	1135	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R356Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGACAGTTCCGTTCACTTTC	0.408000													27	59					0	0	0.007291	0	0
NLRP3	114548	broad.mit.edu	37	1	247582220	247582220	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:247582220C>T	ENST00000366497.2	+	2	904	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	NLRP3_ENST00000348069.2_Missense_Mutation_p.P42S|NLRP3_ENST00000366496.2_Missense_Mutation_p.P42S|NLRP3_ENST00000336119.3_Missense_Mutation_p.P42S|NLRP3_ENST00000391827.2_Missense_Mutation_p.P42S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P42S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATCCCCCTCCCGAGGGGTCA	0.557000													7	33					0	0	0.001984	0	0
PDZD2	23037	broad.mit.edu	37	5	32074232	32074232	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32074232C>T	ENST00000438447.1	+	18	3408	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1007F			O15018	PDZD2_HUMAN	PDZ domain containing 2	1007					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCTCAATTTCCTCTTCCAAG	0.577000													10	24					0	0	0.006214	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098649	60098649	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:60098649G>A	ENST00000543448.1	+	0	215				SLC16A7_ENST00000547379.1_Missense_Mutation_p.V23I|SLC16A7_ENST00000261187.4_Missense_Mutation_p.V23I|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552432.1_Missense_Mutation_p.V23I|SLC16A7_ENST00000552024.1_Missense_Mutation_p.V23I|SLC16A7_ENST00000549465.1_Missense_Mutation_p.V23I			O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7							integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTGGATTGTGGTTGGAGCAGC	0.458000													6	12					0	0	0.003080	0	0
GIPC3	126326	broad.mit.edu	37	19	3589545	3589545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:3589545G>T	ENST00000322315.5	+	4	742	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	233										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACagtggaggaagcggt	0.612000													17	33					3.51602e-12	4.22474e-12	0.008871	1	0
SLC12A2	6558	broad.mit.edu	37	5	127474309	127474309	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127474309T>G	ENST00000262461.2	+	8	1618	c.1429T>G	c.(1429-1431)Ttt>Gtt	p.F477V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.F477V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	477					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAATGAGAACTTTGGGCCCGA	0.363000													13	35					0	0	0.002450	0	0
LRMP	4033	broad.mit.edu	37	12	25259884	25259884	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:25259884G>A	ENST00000354454.3	+	20	1985	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	LRMP_ENST00000547044.1_Missense_Mutation_p.D386N|LRMP_ENST00000548766.1_Missense_Mutation_p.D386N	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	442					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CAGAACTAAAGATGACTCAGA	0.313000													3	5					0	0	0.004672	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538652	112538652	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:112538652C>T	ENST00000488794.1	-	7	1296	c.707G>A	c.(706-708)gGa>gAa	p.G236E	CD200R1L_ENST00000448932.1_Missense_Mutation_p.G236E|CD200R1L_ENST00000398214.1_Missense_Mutation_p.G257E			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	257						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GAAAACAAATCCTGTGGTGAC	0.368000													19	18					0	0	0.001882	0	0
AKAP13	11214	broad.mit.edu	37	15	86270681	86270681	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:86270681C>T	ENST00000394518.2	+	29	7169	c.7074C>T	c.(7072-7074)gcC>gcT	p.A2358A	AKAP13_ENST00000394510.2_Silent_p.A603A|AKAP13_ENST00000361243.2_Silent_p.A2362A|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2358	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACACCAGAGCCCGAGAATTAA	0.443000													3	10					0	0	0.004672	0	0
COL11A2	1302	broad.mit.edu	37	6	33143840	33143840	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33143840C>T	ENST00000341947.2	-	29	2448	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	COL11A2_ENST00000357486.1_Missense_Mutation_p.D720N|COL11A2_ENST00000374713.1_Missense_Mutation_p.D694N|COL11A2_ENST00000374714.1_Missense_Mutation_p.D715N|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.D681N|COL11A2_ENST00000361917.1_Missense_Mutation_p.D634N|COL11A2_ENST00000374708.4_Missense_Mutation_p.D655N|COL11A2_ENST00000374712.1_Missense_Mutation_p.D660N	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	741	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGAAAGCCATCCTCACCCTGA	0.547000													41	109					0	0	0.002222	0	0
CDH12	1010	broad.mit.edu	37	5	21854788	21854788	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:21854788G>A	ENST00000382254.1	-	7	1724	c.638C>T	c.(637-639)cCc>cTc	p.P213L	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.P213L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACCTGTCTTGGGATCAATAGA	0.398000										HNSCC(59;0.17)			5	16					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	114111130	114111130	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:114111130G>A	ENST00000297405.5	-	5	1016	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P258S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P258S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P218S|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	258	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTCATTAGGAAAACTAGGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	20					0	0	0.008291	0	0
SPSB1	80176	broad.mit.edu	37	1	9416002	9416002	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:9416002A>T	ENST00000328089.6	+	2	393	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SPSB1_ENST00000377399.2_Missense_Mutation_p.T18S|SPSB1_ENST00000357898.3_Missense_Mutation_p.T18S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	18					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGGACCCCACGTACAGGCC	0.577000													17	35					0	0	0.004990	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800816	26800816	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:26800816C>T	ENST00000376236.4	+	7	1127	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	224	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTATGAAATCTACCCGGAAC	0.458000													16	25					0	0	0.004007	0	0
TCN2	6948	broad.mit.edu	37	22	31003346	31003346	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:31003346C>T	ENST00000215838.3	+	1	522	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	TCN2_ENST00000407817.3_Missense_Mutation_p.L10F|TCN2_ENST00000405742.3_Missense_Mutation_p.L10F			P20062	TCO2_HUMAN	transcobalamin II	10					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)	CTTCCTCTTCCTTCTGGGGGT	0.617000													26	62					0	0	0.006320	0	0
LCT	3938	broad.mit.edu	37	2	136564955	136564955	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:136564955C>T	ENST00000264162.2	-	9	3926	c.3916G>A	c.(3916-3918)Gat>Aat	p.D1306N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1306	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTATACCATCGAGCCTGTAG	0.522000													23	29					0	0	0.004656	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743107	26743107	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:26743107G>A	ENST00000396005.3	-	1	464	c.155C>T	c.(154-156)cCt>cTt	p.P52L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.P52L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	52					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAGCCGACAGGGCCAAAGCT	0.522000													18	7					0	0	0.008871	0	0
CTCFL	140690	broad.mit.edu	37	20	56078497	56078497	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:56078497C>T	ENST00000429804.2	-	9	2245	c.1685G>A	c.(1684-1686)gGa>gAa	p.G562E	CTCFL_ENST00000502686.2_Missense_Mutation_p.G350E|CTCFL_ENST00000243914.3_Missense_Mutation_p.G612E|CTCFL_ENST00000433949.2_Missense_Mutation_p.G612E|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.G612E|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.G612E	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	612					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGTACCGTCTCCGTTCGCGGC	0.507000													14	88					0	0	0.004007	0	0
PRKCB	5579	broad.mit.edu	37	16	24124306	24124306	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:24124306G>A	ENST00000303531.7	+	8	986	c.834G>A	c.(832-834)ctG>ctA	p.L278L	PRKCB_ENST00000321728.7_Silent_p.L278L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	278					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTAAGTTACTGAGCCAGGAGG	0.453000													28	39					0	0	0.001786	0	0
MTMR11	10903	broad.mit.edu	37	1	149902812	149902812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:149902812G>A	ENST00000439741.2	-	14	1586	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S243S|MTMR11_ENST00000369140.3_Nonsense_Mutation_p.Q374*|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	446	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGAAACTGCTGGAGGAGCTGC	0.473000													13	11					0	0	0.001855	0	0
ITGAV	3685	broad.mit.edu	37	2	187531934	187531934	+	Silent	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:187531934T>A	ENST00000261023.3	+	23	2578	c.2304T>A	c.(2302-2304)gtT>gtA	p.V768V	ITGAV_ENST00000433736.2_Silent_p.V722V|ITGAV_ENST00000374907.3_Silent_p.V732V|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	768					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATCTTGCTGTTTTAGCTGCAG	0.333000													18	24					0	0	0.007413	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560644	67560644	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:67560644G>A	ENST00000528089.1	-	0	1106																											TCACAATCCCGTTGGAGTCGT	0.438000													4	27					0	0	0.000248	0	0
SLC2A3	6515	broad.mit.edu	37	12	8075447	8075447	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8075447G>A	ENST00000075120.7	-	9	1482	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	414					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATCCGACTAGGAAGTTGGAGG	0.532000													23	28					0	0	0.004656	0	0
CDH8	1006	broad.mit.edu	37	16	61687629	61687629	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687629G>A	ENST00000577390.1	-	12	3237	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	761					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGACTCCAAGGAGCTGAGGG	0.537000													8	4					0	0	0.003080	0	0
CLSTN1	22883	broad.mit.edu	37	1	9793578	9793578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:9793578C>A	ENST00000377298.4	-	16	3100	c.2308G>T	c.(2308-2310)Gag>Tag	p.E770*	CLSTN1_ENST00000377288.3_Nonsense_Mutation_p.E751*|CLSTN1_ENST00000361311.4_Nonsense_Mutation_p.E760*	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	770					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAAAACCTCCTCGTAGCTG	0.597000													12	24					2.27111e-07	2.71578e-07	0.001368	1	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													26	69					0	0	0.008361	0	0
COL24A1	255631	broad.mit.edu	37	1	86203099	86203099	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:86203099G>T	ENST00000370571.2	-	58	5128	c.4762C>A	c.(4762-4764)Cct>Act	p.P1588T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1567T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1588	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAACAGGAGGTAAGCATGTC	0.348000													5	6					0.00198382	0.00235949	0.001984	1	0
FLT1	2321	broad.mit.edu	37	13	28963935	28963935	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:28963935C>T	ENST00000282397.4	-	13	2218	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K	FLT1_ENST00000541932.1_Missense_Mutation_p.R656K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	656					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTCACCTCTGATTGTAAT	0.403000													5	56					0	0	0.000602	0	0
MBOAT7	79143	broad.mit.edu	37	19	54684597	54684597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:54684597C>T	ENST00000245615.1	-	6	1227	c.747G>A	c.(745-747)tgG>tgA	p.W249*	MBOAT7_ENST00000431666.2_Nonsense_Mutation_p.W176*|MBOAT7_ENST00000338624.6_Nonsense_Mutation_p.W176*|MBOAT7_ENST00000391754.1_Nonsense_Mutation_p.W249*	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	249					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGCGGCAATCCAGGCCACGT	0.716000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	4					0	0	0.000602	0	0
POTEE	445582	broad.mit.edu	37	2	131976449	131976449	+	Silent	SNP	C	C	T	rs142484775		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:131976449C>T	ENST00000356920.5	+	1	568	c.474C>T	c.(472-474)atC>atT	p.I158I	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.I158I	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	158							ATP binding	p.I158I(1)									AGGATCTCATCGTCATGCTCA	0.577000													19	81					0	0	0.001882	0	0
SDK2	54549	broad.mit.edu	37	17	71394260	71394260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:71394260G>A	ENST00000392650.3	-	24	3268	c.3268C>T	c.(3268-3270)Cag>Tag	p.Q1090*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.Q1090*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1090					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCAGGGTCTGGATCTTTCTA	0.627000													14	25					0	0	0.002450	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62557655G>A	ENST00000262435.9	-	12	1466	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000													11	24					0	0	0.003163	0	0
TSIX	9383	broad.mit.edu	37	X	73043857	73043857	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73043857G>A	ENST00000604411.1	+	0	31818				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTTCAATAATGATAATAAATG	0.333000													8	5					0	0	0.003080	0	0
FAM13C	220965	broad.mit.edu	37	10	61023882	61023882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61023882C>T	ENST00000373867.3	-	10	1203	c.738G>A	c.(736-738)tgG>tgA	p.W246*	FAM13C_ENST00000435852.2_Nonsense_Mutation_p.W329*|FAM13C_ENST00000277705.6_Nonsense_Mutation_p.W350*|FAM13C_ENST00000442566.3_Nonsense_Mutation_p.W350*|FAM13C_ENST00000468840.2_Nonsense_Mutation_p.W246*|FAM13C_ENST00000422313.2_Nonsense_Mutation_p.W329*|FAM13C_ENST00000373868.2_Nonsense_Mutation_p.W329*|FAM13C_ENST00000419214.2_Intron	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	329										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATCATTCATCCATTTCAGGA	0.453000													20	26					0	0	0.002299	0	0
COL4A4	1286	broad.mit.edu	37	2	227875158	227875158	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:227875158C>T	ENST00000396625.3	-	46	4600	c.4393G>A	c.(4393-4395)Ggc>Agc	p.G1465S	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1462S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1465	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGGAAGCCACCGAGGTAT	0.592000													15	16					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:3443759G>A	ENST00000602557.1	-	10	1679	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S375L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000													4	11					0	0	0.000602	0	0
CEP89	84902	broad.mit.edu	37	19	33406353	33406353	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:33406353C>T	ENST00000305768.4	-	14	1543	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	485						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTTCCCTGTTCTCCGCCAGCT	0.428000													24	47					0	0	0.002299	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961433	104961433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:104961433G>A	ENST00000372582.1	+	7	1602	c.846G>A	c.(844-846)atG>atA	p.M282I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M282I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	282	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTACTGGATGAAAGGAGAAA	0.423000													35	19					0	0	0.003755	0	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:82584459C>T	ENST00000423517.2	-	5	6147	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1937Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1868					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTCATCTCGTTCATTTGC	0.363000													12	22					0	0	0.001855	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476765	140476765	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140476765C>T	ENST00000194155.4	+	1	2539	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		797					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTTGAATTCACTTAAGTGT	0.423000													31	53					0	0	0.003271	0	0
HINFP	25988	broad.mit.edu	37	11	119001629	119001629	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119001629C>T	ENST00000350777.2	+	3	439	c.376C>T	c.(376-378)Cct>Tct	p.P126S	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.P126S	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	126					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGATATCCCTGACCACTT	0.582000													22	6					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179597199	179597199	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179597199C>T	ENST00000589042.1	-	56	16813	c.16589G>A	c.(16588-16590)gGg>gAg	p.G5530E	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5213E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4286E|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5213	Ig-like 36.						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)			GCATTCCACCCCTCCAGCGAC	0.383000													17	28					0	0	0.004007	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798450	55798450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55798450G>A	ENST00000313555.1	+	1	556	c.556G>A	c.(556-558)Gct>Act	p.A186T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACCTCTTCTGGCTTTATCATG	0.413000													75	36					0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	51253597	51253597	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:51253597G>A	ENST00000404971.1	-	3	2122	c.783C>T	c.(781-783)ttC>ttT	p.F261F	NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000405581.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000406316.2_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	258					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGAAGACCGAATTTTATTT	0.378000													5	5					0	0	0.001168	0	0
SETDB1	9869	broad.mit.edu	37	1	150923356	150923356	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150923356G>A	ENST00000271640.5	+	13	2193	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R668Q|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGTGGACCGAAAGTTTCAG	0.443000													17	53					0	0	0.006122	0	0
COL10A1	1300	broad.mit.edu	37	6	116442510	116442510	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:116442510C>T	ENST00000327673.4	-	2	1176	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.E257K|AL121963.1_ENST00000430695.1_Missense_Mutation_p.S55F			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	257	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGCCCTCGTTCCCCAGGAGGG	0.592000													15	12					0	0	0.004007	0	0
A1CF	29974	broad.mit.edu	37	10	52603792	52603792	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:52603792G>A	ENST00000395489.2	-	6	565	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	A1CF_ENST00000373995.3_Missense_Mutation_p.P72S|A1CF_ENST00000282641.2_Missense_Mutation_p.P64S|A1CF_ENST00000373997.3_Missense_Mutation_p.P64S|A1CF_ENST00000395495.1_Missense_Mutation_p.P64S|A1CF_ENST00000374001.1_Missense_Mutation_p.P64S|A1CF_ENST00000373993.1_Missense_Mutation_p.P64S	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	64	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGTCTCGGGGAAGTTTTCCA	0.398000													17	47					0	0	0.004007	0	0
ITGAM	3684	broad.mit.edu	37	16	31341842	31341842	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:31341842C>T	ENST00000544665.3	+	28	3266	c.3195C>T	c.(3193-3195)ctC>ctT	p.L1065L	ITGAM_ENST00000287497.8_Silent_p.L1064L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1064					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATAACCACCTCCTGATCGTGA	0.627000													7	6					0	0	0.004482	0	0
DHX38	9785	broad.mit.edu	37	16	72142233	72142233	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:72142233C>T	ENST00000268482.3	+	22	3581	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	DHX38_ENST00000536867.1_Silent_p.S336S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1024					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATAATTACTCCACCATCTGGT	0.488000													17	16					0	0	0.004007	0	0
BCAN	63827	broad.mit.edu	37	1	156617414	156617414	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156617414C>G	ENST00000329117.4	+	4	917	c.581C>G	c.(580-582)gCc>gGc	p.A194G	BCAN_ENST00000361588.5_Missense_Mutation_p.A194G|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	194	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTCTATGCCGCCTACCTT	0.632000													43	89					0	0	0.002522	0	0
ZNF345	25850	broad.mit.edu	37	19	37368501	37368501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37368501C>T	ENST00000529555.1	+	2	1557	c.769C>T	c.(769-771)Cca>Tca	p.P257S	ZNF345_ENST00000589046.1_Missense_Mutation_p.P257S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P257S			Q14585	ZN345_HUMAN	zinc finger protein 345	257					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGGTGAGAAACCATATATATG	0.408000													8	18					0	0	0.003080	0	0
CXorf57	55086	broad.mit.edu	37	X	105891583	105891583	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:105891583G>A	ENST00000372548.4	+	11	2054	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	CXorf57_ENST00000372544.2_Missense_Mutation_p.G552R|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	649										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAAACAAAGGGAATTAAACC	0.313000													29	11					0	0	0.003755	0	0
DSP	1832	broad.mit.edu	37	6	7584736	7584736	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:7584736G>A	ENST00000379802.3	+	24	7582	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	DSP_ENST00000418664.2_Missense_Mutation_p.G1815E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2414	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATACCAAAGGATTTTTTGAC	0.408000													23	57					0	0	0.002299	0	0
FBN3	84467	broad.mit.edu	37	19	8196555	8196555	+	Missense_Mutation	SNP	C	C	T	rs138440561		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:8196555C>T	ENST00000600128.1	-	15	2287	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	FBN3_ENST00000601739.1_Missense_Mutation_p.E625K|FBN3_ENST00000270509.2_Missense_Mutation_p.E625K			Q75N90	FBN3_HUMAN	fibrillin 3	625	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCCCTTCTCGATGGCCCCA	0.682000													25	22					0	0	0.005443	0	0
DCLK3	85443	broad.mit.edu	37	3	36759600	36759600	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:36759600G>A	ENST00000416516.2	-	4	2144	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	552	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGCGGAATGGGGGAAAGCCA	0.557000													14	109					0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10399732	10399732	+	Silent	SNP	G	G	A	rs138249334		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399732G>A	ENST00000226207.5	-	34	4885	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1597						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACTCCACGATTCTAATGT	0.443000													42	88					0	0	0.003610	0	0
PCGF2	7703	broad.mit.edu	37	17	36894823	36894823	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:36894823G>A	ENST00000579882.1	-	8	770	c.455C>T	c.(454-456)cCt>cTt	p.P152L	PCGF2_ENST00000360797.2_Silent_p.L151L|PCGF2_ENST00000578109.1_Missense_Mutation_p.P98L|PCGF2_ENST00000580830.1_Silent_p.L151L|PCGF2_ENST00000581345.1_Silent_p.L151L|PCGF2_ENST00000585100.1_Missense_Mutation_p.P152L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	150					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CCATTCTCCAGGGGGCCCTTC	0.607000													22	53					0	0	0.002780	0	0
MAP7D1	55700	broad.mit.edu	37	1	36638151	36638151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:36638151G>T	ENST00000316156.4	+	4	1000	c.547G>T	c.(547-549)Gag>Tag	p.E183*	MAP7D1_ENST00000373151.2_Nonsense_Mutation_p.E183*|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Nonsense_Mutation_p.E183*			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	183						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCGCCGGCTGGAGGAGCAACG	0.632000													9	17					3.09899e-07	3.70353e-07	0.004482	1	0
AADAC	13	broad.mit.edu	37	3	151535330	151535330	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:151535330G>A	ENST00000232892.6	+	2	441	c.315G>A	c.(313-315)agG>agA	p.R105R	AADAC_ENST00000488869.1_Silent_p.R105R|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	105					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTAAGAAGGGGGTTGTTTT	0.433000													12	56					0	0	0.004007	0	0
IL7R	3575	broad.mit.edu	37	5	35857161	35857161	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35857161G>A	ENST00000303115.3	+	1	211	c.82_splice	c.e1+1	p.G28_splice	IL7R_ENST00000511982.1_Splice_Site_p.G28_splice|IL7R_ENST00000343305.4_Splice_Site_p.G28_splice|IL7R_ENST00000511031.1_Intron|IL7R_ENST00000506850.1_Splice_Site_p.G28_splice	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	28					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)			TGCTCAAAATGGTGAGTCATT	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						30	46					0	0	0.002836	0	0
MGAM	8972	broad.mit.edu	37	7	141770860	141770860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141770860C>T	ENST00000475668.2	+	44	5182	c.5128C>T	c.(5128-5130)Cat>Tat	p.H1710Y	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1710	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTAATCTTCATGTCCGTGG	0.493000													4	5					0	0	0.000248	0	0
GLI2	2736	broad.mit.edu	37	2	121744126	121744126	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:121744126C>T	ENST00000452319.1	+	13	2289	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	GLI2_ENST00000361492.4_Silent_p.S743S|GLI2_ENST00000314490.11_Silent_p.S415S			P10070	GLI2_HUMAN	GLI family zinc finger 2	743					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCAAGGATTCCTGCTCATGGG	0.617000													16	27					0	0	0.001882	0	0
ZNF573	126231	broad.mit.edu	37	19	38230610	38230610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38230610G>A	ENST00000339503.4	-	8	1108	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	ZNF573_ENST00000590414.2_Missense_Mutation_p.L261F|ZNF573_ENST00000536220.1_Missense_Mutation_p.L173F|ZNF573_ENST00000392138.1_Missense_Mutation_p.L174F|ZNF573_ENST00000357309.3_Missense_Mutation_p.L173F	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGAATTCTAAGATGTCCACCT	0.423000													22	32					0	0	0.002780	0	0
RP1	6101	broad.mit.edu	37	8	55542424	55542424	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55542424C>T	ENST00000220676.1	+	4	6130	c.5982C>T	c.(5980-5982)ttC>ttT	p.F1994F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1994					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTTTTATTTCAGTAACACAT	0.303000													6	12					0	0	0.001984	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446468	169446468	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446468A>G	ENST00000236137.5	-	2	968	c.732T>C	c.(730-732)tcT>tcC	p.S244S	SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	244					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GAAGGTGGTTAGAAGCTGGGG	0.483000													5	101					0	0	0.003080	0	0
PML	5371	broad.mit.edu	37	15	74327548	74327548	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:74327548C>T	ENST00000569477.1	+	8	1868	c.1786C>T	c.(1786-1788)Ctc>Ttc	p.L596F	PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Silent_p.S534S|PML_ENST00000268058.3_Intron|PML_ENST00000268059.6_Silent_p.S582S|PML_ENST00000569965.1_Intron|PML_ENST00000435786.2_3'UTR			P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCCACAGTCCTCGCCAGCCC	0.637000			T	"""RARA, PAX5"""	"""APL, ALL"""								43	106					0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36486381	36486381	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:36486381G>A	ENST00000342292.4	-	11	3091	c.3071C>T	c.(3070-3072)cCa>cTa	p.P1024L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1024						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTCGAGCTGGGGCAGGGGA	0.612000													16	31					0	0	0.004007	0	0
KRT82	3888	broad.mit.edu	37	12	52790786	52790786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52790786C>T	ENST00000257974.2	-	6	1026	c.949G>A	c.(949-951)Gag>Aag	p.E317K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	317	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACTCTCAGCTCCTCATACTGC	0.532000													9	25					0	0	0.001368	0	0
PAXIP1-AS2	100132707	broad.mit.edu	37	7	154735844	154735844	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:154735844G>A	ENST00000397551.2	+	3	428	c.296G>A	c.(295-297)gGc>gAc	p.G99D	PAXIP1_ENST00000404141.1_3'UTR|PAXIP1_ENST00000397192.1_3'UTR|PAXIP1_ENST00000473219.1_5'UTR																endometrium(1)	1						GACATGCACGGCAGCCTAGAC	0.517000													3	2					0	0	0.004672	0	0
PRB2	653247	broad.mit.edu	37	12	11545984	11545984	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:11545984C>T	ENST00000389362.4	-	3	1063	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.597000													60	62					0	0	0.003610	0	0
NUDT4	11163	broad.mit.edu	37	12	93793091	93793091	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:93793091C>T	ENST00000337179.5	+	5	922	c.482C>T	c.(481-483)cCg>cTg	p.P161L	NUDT4_ENST00000548662.1_Missense_Mutation_p.P108L|NUDT4_ENST00000549992.1_Missense_Mutation_p.P108L|NUDT4_ENST00000415493.2_Missense_Mutation_p.P160L|NUDT4_ENST00000547014.1_Missense_Mutation_p.P109L	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	160					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CCTTCCCTTCCGGATAATAAT	0.478000													19	171					0	0	0.001523	0	0
FAM160B1	57700	broad.mit.edu	37	10	116615042	116615042	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:116615042C>T	ENST00000369248.4	+	14	2225	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	FAM160B1_ENST00000369250.3_Silent_p.F630F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	630										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAGCTGCTTTCTTTGAAGGTC	0.368000													4	25					0	0	0.000248	0	0
SOAT2	8435	broad.mit.edu	37	12	53499366	53499366	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53499366G>A	ENST00000301466.3	+	4	357	c.297G>A	c.(295-297)ggG>ggA	p.G99G		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	99					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CATCCCTGGGGAAACAGAAAG	0.502000													8	10					0	0	0.006214	0	0
CERS3	204219	broad.mit.edu	37	15	101019668	101019668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:101019668C>T	ENST00000284382.4	-	8	904	c.481G>A	c.(481-483)Gac>Aac	p.D161N	CERS3_ENST00000394113.1_Missense_Mutation_p.D161N|CERS3_ENST00000538112.2_Missense_Mutation_p.D161N|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	161	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCATAAGTCATATAGCCAA	0.383000													13	23					0	0	0.001855	0	0
ZNF430	80264	broad.mit.edu	37	19	21240397	21240397	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:21240397C>T	ENST00000261560.5	+	5	1464	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGAGAGAAACCCTACAAATGT	0.368000													5	7					0	0	0.000602	0	0
INSRR	3645	broad.mit.edu	37	1	156814327	156814327	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156814327G>A	ENST00000368195.3	-	14	3060	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	888	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTAACCCTGGCAGAGTAGT	0.572000													16	32					0	0	0.004007	0	0
COL5A3	50509	broad.mit.edu	37	19	10085029	10085029	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10085029C>T	ENST00000264828.3	-	46	3483	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1133	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCGTCATCTCCTTTCTGCCC	0.607000													14	24					0	0	0.002450	0	0
JARID2	3720	broad.mit.edu	37	6	15496885	15496885	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:15496885G>A	ENST00000341776.2	+	7	1673	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	JARID2_ENST00000397311.3_Missense_Mutation_p.E305K|JARID2_ENST00000541660.1_Missense_Mutation_p.E439K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	477					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCCCCGGCCGAGAGAGGTCT	0.677000													8	27					0	0	0.004482	0	0
TIMM50	92609	broad.mit.edu	37	19	39976354	39976354	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:39976354C>T	ENST00000314349.4	+	6	841	c.708C>T	c.(706-708)tgC>tgT	p.C236C	TIMM50_ENST00000607714.1_Silent_p.C133C|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Silent_p.C20C	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	133	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGCCCTTGCCTTCTCCCAG	0.627000													25	35					0	0	0.006320	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443451	5443451	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:5443451C>T	ENST00000300778.4	+	1	111	c.21C>T	c.(19-21)acC>acT	p.T7T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	7					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)		TGACTAACACCACACAAGAAG	0.468000													27	11					0	0	0.007291	0	0
ZNF283	284349	broad.mit.edu	37	19	44351245	44351245	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44351245C>T	ENST00000324461.7	+	7	789	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ZNF283_ENST00000588797.1_Silent_p.F25F	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAAGCATATTCGAGGGACTAA	0.363000													5	11					0	0	0.001168	0	0
CIITA	4261	broad.mit.edu	37	16	10997604	10997604	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:10997604C>T	ENST00000324288.8	+	9	922	c.789C>T	c.(787-789)gcC>gcT	p.A263A	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.A214A	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	263					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCCCAGGCCAGCCAAGTAC	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								16	30					0	0	0.007413	0	0
HDAC9	9734	broad.mit.edu	37	7	18767295	18767295	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18767295C>T	ENST00000406451.3	+	13	1965	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	HDAC9_ENST00000401921.1_Silent_p.L564L|HDAC9_ENST00000441542.2_Silent_p.L608L|HDAC9_ENST00000432645.2_Silent_p.L605L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	605					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACACCGTCTCGTCTCCAGGA	0.592000													6	10					0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14746954	14746954	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:14746954C>T	ENST00000380881.4	-	35	6923	c.6108G>A	c.(6106-6108)ggG>ggA	p.G2036G	FREM1_ENST00000380894.1_Silent_p.G571G|FREM1_ENST00000380880.3_Silent_p.G2035G|FREM1_ENST00000422223.2_Silent_p.G2035G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2035					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCAGGCGATCCCATTGCACT	0.488000													3	3					0	0	0.000248	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:57640915G>A	ENST00000254181.4	+	4	1326	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_ENST00000598197.1_Missense_Mutation_p.G291E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAATTTGGGAAACACCTGT	0.473000													19	22					0	0	0.006122	0	0
COL6A6	131873	broad.mit.edu	37	3	130381038	130381038	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:130381038G>A	ENST00000358511.6	+	34	6419	c.6388G>A	c.(6388-6390)Gag>Aag	p.E2130K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E2130K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2130	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAAGGAACTGGAGGATCTCGC	0.468000													52	39					0	0	0.003610	0	0
ANKRD44	91526	broad.mit.edu	37	2	197870442	197870442	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:197870442G>A	ENST00000328737.2	-	21	2324	c.2248C>T	c.(2248-2250)Ccg>Tcg	p.P750S	ANKRD44_ENST00000450567.1_Missense_Mutation_p.P750S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.P767S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.P750S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	775							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGTGCAGCGGCGTGTAGCCT	0.532000													31	36					0	0	0.002836	0	0
OBSCN	84033	broad.mit.edu	37	1	228556533	228556533	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:228556533C>T	ENST00000570156.2	+	100	22823	c.22749C>T	c.(22747-22749)tcC>tcT	p.S7583S	OBSCN_ENST00000366707.4_Silent_p.S4260S|OBSCN_ENST00000422127.1_Silent_p.S6626S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6626	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTACGGCTCCCCTGAGTTCG	0.582000													37	86					0	0	0.004289	0	0
MYO1G	64005	broad.mit.edu	37	7	45015128	45015128	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:45015128C>T	ENST00000258787.7	-	4	655	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	173	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCGGGTCCCCCTTGAAGTCAA	0.597000													6	12					0	0	0.003080	0	0
MVP	9961	broad.mit.edu	37	16	29841948	29841948	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:29841948C>T	ENST00000452209.2	+	2	172	c.29C>T	c.(28-30)cCc>cTc	p.P10L	MVP_ENST00000395353.1_Silent_p.S26S|CTD-2574D22.6_ENST00000562285.1_3'UTR|MVP_ENST00000357402.5_Silent_p.S26S|MVP_ENST00000566554.1_3'UTR			Q14764	MVP_HUMAN	major vault protein	0					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAACGTGTCCCGTGTGGAGG	0.592000													20	27					0	0	0.002780	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326656	74326656	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:74326656G>A	ENST00000446526.3	-	5	1000	c.555C>T	c.(553-555)ttC>ttT	p.F185F	PRPSAP1_ENST00000324684.4_Silent_p.F82F	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	156					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACTGAAGCAGGAAAGGTGAGG	0.393000													15	34					0	0	0.004990	0	0
RHOF	54509	broad.mit.edu	37	12	122219099	122219099	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:122219099C>T	ENST00000267205.2	-	3	855		c.e3-1		TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)						actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCTTCTTGCCCTGAAAGCACA	0.617000													16	8					0	0	0.004990	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678260	66678260	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:66678260G>A	ENST00000360242.5	+	7	1470	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V	CCDC102B_ENST00000319445.6_Silent_p.V451V|CCDC102B_ENST00000584156.1_Silent_p.V451V	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	451										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACAACCGAGTGGATCAAAATG	0.368000													7	20					0	0	0.003080	0	0
PDCD10	11235	broad.mit.edu	37	3	167414821	167414821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:167414821G>A	ENST00000392750.2	-	5	661	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	PDCD10_ENST00000497056.2_Missense_Mutation_p.R82C|PDCD10_ENST00000471885.1_Missense_Mutation_p.R82C|PDCD10_ENST00000473645.2_Missense_Mutation_p.R82C|PDCD10_ENST00000461494.1_Missense_Mutation_p.R82C|PDCD10_ENST00000487947.2_Missense_Mutation_p.R82C|PDCD10_ENST00000470131.1_Missense_Mutation_p.R82C|PDCD10_ENST00000492396.1_Missense_Mutation_p.R19C	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	82					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCTGCCATACGAAGAAGGGAC	0.348000													7	36					0	0	0.001984	0	0
ACSM1	116285	broad.mit.edu	37	16	20702395	20702395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20702395C>T	ENST00000307493.4	-	1	183	c.116G>A	c.(115-117)aGa>aAa	p.R39K	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R39K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATTCCATCTTGGGGCTCC	0.507000													42	82					0	0	0.002522	0	0
KRT85	3891	broad.mit.edu	37	12	52760878	52760878	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52760878G>A	ENST00000257901.3	-	1	387	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	104	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGCGTGAGGAGGCTCTCGT	0.652000													43	51					0	0	0.003610	0	0
TACC1	6867	broad.mit.edu	37	8	38704275	38704275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:38704275C>T	ENST00000379931.3	+	13	2702	c.2323C>T	c.(2323-2325)Cat>Tat	p.H775Y	TACC1_ENST00000520611.1_Missense_Mutation_p.H200Y|TACC1_ENST00000443286.2_Missense_Mutation_p.H750Y|TACC1_ENST00000317827.4_Missense_Mutation_p.H763Y|TACC1_ENST00000348567.4_Missense_Mutation_p.H325Y|TACC1_ENST00000520973.1_Missense_Mutation_p.H539Y|TACC1_ENST00000519416.1_Missense_Mutation_p.H567Y|TACC1_ENST00000518415.1_Missense_Mutation_p.H689Y|TACC1_ENST00000276520.8_Missense_Mutation_p.H353Y|TACC1_ENST00000520615.1_Missense_Mutation_p.H568Y|TACC1_ENST00000330691.6_Missense_Mutation_p.H337Y			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	763	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCAGCTCTCCATGCTGGACT	0.507000													7	22					0	0	0.003080	0	0
EFNA2	1943	broad.mit.edu	37	19	1298561	1298561	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:1298561C>T	ENST00000215368.2	+	3	481	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	156					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGCCACGCCTCCCAATGCTGT	0.642000													6	11					0	0	0.001984	0	0
ZNF345	25850	broad.mit.edu	37	19	37368502	37368502	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:37368502C>T	ENST00000529555.1	+	2	1558	c.770C>T	c.(769-771)cCa>cTa	p.P257L	ZNF345_ENST00000589046.1_Missense_Mutation_p.P257L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P257L			Q14585	ZN345_HUMAN	zinc finger protein 345	257					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACCATATATATGT	0.408000													9	19					0	0	0.004482	0	0
ARSF	416	broad.mit.edu	37	X	3021866	3021866	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:3021866G>A	ENST00000381127.1	+	9	1387	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	ARSF_ENST00000359361.2_Missense_Mutation_p.G389E|ARSF_ENST00000537104.1_Missense_Mutation_p.G389E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	389						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGATGGCCTGGAAAGGTACCA	0.483000													12	32					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179441334	179441334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179441334G>A	ENST00000589042.1	-	325	69861	c.69637C>T	c.(69637-69639)Cgt>Tgt	p.R23213C	TTN_ENST00000342175.6_Missense_Mutation_p.R14340C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21572C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20645C|TTN_ENST00000460472.2_Missense_Mutation_p.R14148C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14273C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21572	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14148S(1)|p.R20643S(1)|p.R14340S(1)|p.R20645S(1)|p.R14273S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTGACACGGAATTCGTAG	0.443000													47	90					0	0	0.003610	0	0
LARP1	23367	broad.mit.edu	37	5	154181779	154181779	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:154181779C>T	ENST00000336314.4	+	11	1722	c.1698C>T	c.(1696-1698)atC>atT	p.I566I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	643							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAGATCCTCATTGTCA	0.567000													29	44					0	0	0.005443	0	0
ATP12A	479	broad.mit.edu	37	13	25280515	25280515	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:25280515G>A	ENST00000218548.6	+	15	2434	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	ATP12A_ENST00000381946.3_Missense_Mutation_p.E695K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	695					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACAGCTGGATGAGATCTTAGC	0.572000													7	19					0	0	0.001984	0	0
PRLR	5618	broad.mit.edu	37	5	35070311	35070311	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35070311C>T	ENST00000382002.5	-	7	1026	c.600G>A	c.(598-600)caG>caA	p.Q200Q	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Silent_p.Q129Q|PRLR_ENST00000342362.5_Silent_p.Q99Q|PRLR_ENST00000542609.1_Silent_p.Q200Q|PRLR_ENST00000513753.1_Silent_p.Q200Q|PRLR_ENST00000511486.1_Silent_p.Q99Q|PRLR_ENST00000348262.3_Silent_p.Q200Q|PRLR_ENST00000310101.5_Silent_p.Q200Q|PRLR_ENST00000231423.3_Silent_p.Q200Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	200	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAAGGTATTTCTGTCCTGGAT	0.448000													12	19					0	0	0.001368	0	0
TENM4	26011	broad.mit.edu	37	11	78413324	78413324	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:78413324G>A	ENST00000278550.7	-	28	4796	c.4334C>T	c.(4333-4335)cCc>cTc	p.P1445L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCAGTGCATGGGCCTCCCGGC	0.542000													18	8					0	0	0.004990	0	0
SVEP1	79987	broad.mit.edu	37	9	113173659	113173659	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:113173659T>A	ENST00000401783.2	-	37	6668	c.6332A>T	c.(6331-6333)aAa>aTa	p.K2111I	SVEP1_ENST00000297826.5_Missense_Mutation_p.K37I|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2088I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2111	Sushi 12.				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						TTCCATGCATTTAAAGCTCAC	0.458000													14	5					0	0	0.002450	0	0
BCL6B	255877	broad.mit.edu	37	17	6928507	6928507	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:6928507C>T	ENST00000293805.5	+	5	969	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	293						nucleus	zinc ion binding			skin(1)	1						TGAACGGGCTCGTCCACTACC	0.557000													49	77					0	0	0.003610	0	0
GC	2638	broad.mit.edu	37	4	72629572	72629572	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:72629572C>T	ENST00000273951.8	-	5	898	c.555G>A	c.(553-555)atG>atA	p.M185I	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.M204I|GC_ENST00000513476.1_Missense_Mutation_p.M185I	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	185	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGGACCCTACCATAGAAAGAT	0.368000													25	32					0	0	0.004656	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:40958352G>A	ENST00000313164.9	+	11	1837	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000													21	25					0	0	0.002299	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581418	234581418	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:234581418G>A	ENST00000354728.4	+	1	920	c.838G>A	c.(838-840)Gga>Aga	p.G280R	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		CTGCCATCAGGGAAAGCCGTT	0.413000													63	63					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7674777	7674777	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:7674777C>T	ENST00000572933.1	+	28	5952	c.4492C>T	c.(4492-4494)Cat>Tat	p.H1498Y	DNAH2_ENST00000389173.2_Missense_Mutation_p.H1498Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1498	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGGAGCACCCATCACCCAGG	0.527000													11	15					0	0	0.000978	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032414	21032414	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:21032414G>A	ENST00000381545.3	+	11	1399	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.G394R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G394R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G394R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTTTTTAGGAGGATTTATCAT	0.284000													13	13					0	0	0.001368	0	0
FAM126A	84668	broad.mit.edu	37	7	22985211	22985211	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:22985211A>T	ENST00000432176.2	-	11	1795	c.1563T>A	c.(1561-1563)gaT>gaA	p.D521E	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	521						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTACTAATTAATCTGTGGACA	0.373000													30	29					0	0	0.002836	0	0
OR2G3	81469	broad.mit.edu	37	1	247769418	247769418	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:247769418T>G	ENST00000320002.2	+	1	563	c.531T>G	c.(529-531)ttT>ttG	p.F177L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGACCATTTTATTTGCGAAG	0.448000													30	58					0	0	0.003271	0	0
DNAH9	1770	broad.mit.edu	37	17	11593337	11593337	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:11593337G>A	ENST00000262442.3	+	20	4266	c.4198G>A	c.(4198-4200)Gac>Aac	p.D1400N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1400N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1400	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)		CTTCACTATGGACCAGGACAC	0.602000													12	10					0	0	0.001368	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54914599C>T	ENST00000545554.1	+	30	6181	c.6181C>T	c.(6181-6183)Cat>Tat	p.H2061Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.H2061Y|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.H2059Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACGGGAGATCATAAAGTCAC	0.438000													28	40					0	0	0.008361	0	0
GNL2	29889	broad.mit.edu	37	1	38034506	38034506	+	Missense_Mutation	SNP	G	G	A	rs144297344		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:38034506G>A	ENST00000373062.3	-	13	1912	c.1814C>T	c.(1813-1815)gCc>gTc	p.A605V	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	605					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTGATATTTGGCAATCTTCTC	0.408000													56	104					0	0	0.003610	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662687	662687	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:662687C>T	ENST00000266383.5	+	14	1611	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	533						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GACAAGTGGCCTCCTGGGCAC	0.622000													9	14					0	0	0.004482	0	0
SDK2	54549	broad.mit.edu	37	17	71433941	71433941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:71433941C>T	ENST00000392650.3	-	8	937	c.937G>A	c.(937-939)Gag>Aag	p.E313K	SDK2_ENST00000388726.3_Missense_Mutation_p.E313K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	313	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTTCTGGCTCCTTGACAAAC	0.587000													25	29					0	0	0.005443	0	0
CD200	4345	broad.mit.edu	37	3	112066667	112066667	+	Silent	SNP	C	C	T	rs149174117		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:112066667C>T	ENST00000315711.8	+	4	741	c.684C>T	c.(682-684)acC>acT	p.T228T	CD200_ENST00000383681.3_Silent_p.T154T|CD200_ENST00000473539.1_Silent_p.T253T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	228	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TTAAGCAAACCGTCAACAAAG	0.512000													26	30					0	0	0.005443	0	0
PI4KA	5297	broad.mit.edu	37	22	21173974	21173974	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:21173974C>T	ENST00000255882.6	-	6	830	c.744G>A	c.(742-744)gaG>gaA	p.E248E	PI4KA_ENST00000572273.1_Silent_p.E190E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	190					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCAGGGTACCCTCCTGACAGA	0.552000													55	45					0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800856	185800856	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:185800856G>A	ENST00000302277.6	+	4	1327	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	245						intracellular	zinc ion binding	p.G245R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGTGGGAAAAGGATTTAGCAG	0.423000													17	34					0	0	0.006122	0	0
KCNK10	54207	broad.mit.edu	37	14	88729767	88729767	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88729767C>T	ENST00000340700.5	-	2	617	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E61K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E61K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	56					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGTGCCTTCCATCCTGGCT	0.617000													23	57					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179595317	179595317	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179595317C>T	ENST00000589042.1	-	61	18167	c.17943G>A	c.(17941-17943)ctG>ctA	p.L5981L	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L5664L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L4737L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5664	Ig-like 41.						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)			CTGTACCTTCCAGCTGGCTGA	0.423000													49	55					0	0	0.003610	0	0
ZNF225	7768	broad.mit.edu	37	19	44635521	44635521	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:44635521A>G	ENST00000262894.6	+	5	1034	c.754A>G	c.(754-756)Aaa>Gaa	p.K252E	ZNF225_ENST00000590612.1_Missense_Mutation_p.K252E|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGTTCATCGTAAATTACACAC	0.418000													26	36					0	0	0.004656	0	0
INSRR	3645	broad.mit.edu	37	1	156812223	156812223	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:156812223C>T	ENST00000368195.3	-	18	3600	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1068	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATGGCTCTTGAGGTCCC	0.597000													23	61					0	0	0.003330	0	0
FHOD1	29109	broad.mit.edu	37	16	67264382	67264382	+	Silent	SNP	G	G	A	rs150328636		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67264382G>A	ENST00000258201.4	-	19	3133	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	FHOD1_ENST00000567687.1_Silent_p.G541G	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	962	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGGGGTGTAGCCCAGGTAGA	0.602000													31	61					0	0	0.002836	0	0
OR10H1	26539	broad.mit.edu	37	19	15918703	15918703	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:15918703C>G	ENST00000334920.2	-	1	233	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCGCTCCAGACGGTGGCCATG	0.617000													12	32					0	0	0.007413	0	0
IL17B	27190	broad.mit.edu	37	5	148753994	148753994	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:148753994C>T	ENST00000261796.3	-	3	531	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	161					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAAGGCCCTGTGCGGGGC	0.682000													37	35					0	0	0.004878	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:63453887C>T	ENST00000322893.7	-	5	720	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_ENST00000420622.2_Missense_Mutation_p.R151Q|KCNH5_ENST00000394968.1_Missense_Mutation_p.R93Q|KCNH5_ENST00000394964.2_Missense_Mutation_p.R93Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGTGTCAATCGGGCAAATTT	0.378000													17	39					0	0	0.008871	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969226	140969226	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:140969226G>A	ENST00000298296.1	+	4	553	c.553G>A	c.(553-555)Gat>Aat	p.D185N	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	185	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTATACACTGGATGAAAAGGT	0.443000													31	17					0	0	0.008361	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801225	185801225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:185801225G>A	ENST00000302277.6	+	4	1696	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	368						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATGTCTAATGATTGCATATC	0.388000													9	22					0	0	0.006214	0	0
TLR7	51284	broad.mit.edu	37	X	12906353	12906353	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12906353T>C	ENST00000380659.3	+	3	2865	c.2726T>C	c.(2725-2727)tTg>tCg	p.L909S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	909	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAGTGGGTTTTGGCTGAGCTG	0.463000													48	43					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126369722	126369722	+	Silent	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:126369722A>T	ENST00000394329.3	+	9	7564	c.7551A>T	c.(7549-7551)ccA>ccT	p.P2517P	FAT4_ENST00000335110.5_Silent_p.P815P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2517	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATTGACCCACTGAGGGGAG	0.428000													16	27					0	0	0.003163	0	0
SEC24D	9871	broad.mit.edu	37	4	119659432	119659432	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:119659432G>A	ENST00000379735.5	-	19	2754	c.2483C>T	c.(2482-2484)cCt>cTt	p.P828L	SEC24D_ENST00000280551.6_Missense_Mutation_p.P827L|SEC24D_ENST00000511481.1_Missense_Mutation_p.P458L|SEC24D_ENST00000429811.2_Missense_Mutation_p.P383L|SEC24D_ENST00000419654.2_Missense_Mutation_p.P383L|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	827					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCTGCAGAAGGACTTGCACA	0.423000													12	45					0	0	0.003163	0	0
ZNF514	84874	broad.mit.edu	37	2	95815961	95815961	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:95815961G>A	ENST00000295208.2	-	5	731	c.269C>T	c.(268-270)tCc>tTc	p.S90F	ZNF514_ENST00000411425.1_Missense_Mutation_p.S90F	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTCTTCTTTGGAAATTCCCCA	0.373000													42	82					0	0	0.003610	0	0
RTF1	23168	broad.mit.edu	37	15	41767775	41767775	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:41767775T>A	ENST00000389629.4	+	10	1351	c.1339T>A	c.(1339-1341)Ttc>Atc	p.F447I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	447	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAACCAAGAATTCACCGAAAG	0.428000													19	28					0	0	0.001882	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955941	35955941	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:35955941G>A	ENST00000274278.3	-	6	1458	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.V367V|UGT3A1_ENST00000507113.1_Silent_p.V333V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	367						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCATGAGTGACAAAAAGAC	0.483000													27	38					0	0	0.008361	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	G	A	rs35494032	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:2878238G>A	ENST00000586426.1	+	4	1366	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E428K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGTAAATGCGAAAAATGTGG	0.448000													36	58					0	0	0.005524	0	0
RALGPS2	55103	broad.mit.edu	37	1	178777196	178777196	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:178777196G>A	ENST00000367635.3	+	5	568	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RALGPS2_ENST00000324778.4_Missense_Mutation_p.G42E|RALGPS2_ENST00000367634.2_Missense_Mutation_p.G77E	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	77	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCAAGTTGTGGATGGAATAAA	0.308000													12	21					0	0	0.000978	0	0
OR9K2	441639	broad.mit.edu	37	12	55523903	55523903	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55523903C>T	ENST00000305377.5	+	1	439	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I117I(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACAAGTCTATCTCCTTTGCAG	0.448000													19	36					0	0	0.001523	0	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:69348921C>T	ENST00000370598.1	+	3	1175	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000													12	12					0	0	0.000978	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192186	125192186	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:125192186T>C	ENST00000431078.1	+	5	1019	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGGGTCCTGTTCCATGGAGA	0.512000													10	23					0	0	0.008291	0	0
PARM1	25849	broad.mit.edu	37	4	75938326	75938326	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:75938326G>A	ENST00000307428.7	+	2	947	c.735G>A	c.(733-735)gtG>gtA	p.V245V	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	245					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTCCCAGGGTGATCATGCAGG	0.473000													17	20					0	0	0.004990	0	0
ITGA2	3673	broad.mit.edu	37	5	52386420	52386420	+	Silent	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:52386420C>A	ENST00000296585.5	+	30	3680	c.3537C>A	c.(3535-3537)ctC>ctA	p.L1179L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1179					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCACAGAGCTCAGTAGCTGAA	0.423000													7	14					0.000157383	0.000187523	0.003080	1	0
PRSS37	136242	broad.mit.edu	37	7	141540847	141540847	+	Translation_Start_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141540847C>T	ENST00000350549.3	-	1	374	c.3G>A	c.(1-3)atG>atA	p.M1I	PRSS37_ENST00000438520.1_Start_Codon_SNP_p.M1I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	1					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGACATATTTCATGGTGATCC	0.483000													21	29					0	0	0.003330	0	0
FAM47C	442444	broad.mit.edu	37	X	37026802	37026802	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37026802C>T	ENST00000358047.3	+	1	371	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	107										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTTCCAAGCTCTCGCCAGC	0.532000													29	33					0	0	0.007291	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821216	5821216	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:5821216C>T	ENST00000381095.3	-	5	2130	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	NLGN4X_ENST00000275857.6_Missense_Mutation_p.M501I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.M501I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.M521I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M501I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	501					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGACCGATCATGGGGATGC	0.532000													28	23					0	0	0.004656	0	0
ATP10A	57194	broad.mit.edu	37	15	25967028	25967028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:25967028G>A	ENST00000356865.6	-	7	1250	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	380					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AATTTCAATGGAAACGTATAA	0.448000													25	35					0	0	0.003330	0	0
CNGA2	1260	broad.mit.edu	37	X	150912578	150912578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:150912578C>T	ENST00000329903.4	+	6	1636	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	535					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)					AATGGGCAATCGACGCACAGC	0.498000													34	55					0	0	0.006230	0	0
GABRA1	2554	broad.mit.edu	37	5	161300146	161300146	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:161300146C>A	ENST00000428797.2	+	6	634	c.279C>A	c.(277-279)ttC>ttA	p.F93L	GABRA1_ENST00000420560.1_Missense_Mutation_p.F93L|GABRA1_ENST00000437025.2_Missense_Mutation_p.F93L|GABRA1_ENST00000444819.1_Missense_Mutation_p.F93L|GABRA1_ENST00000023897.6_Missense_Mutation_p.F93L|GABRA1_ENST00000393943.4_Missense_Mutation_p.F93L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	93					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F93F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATGTATTTTTCCGTCAAAGCT	0.373000													25	48					3.73988e-18	4.51553e-18	0.006320	1	0
ART4	420	broad.mit.edu	37	12	14993593	14993593	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:14993593C>T	ENST00000228936.4	-	2	1020	c.639G>A	c.(637-639)ctG>ctA	p.L213L	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	213					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCTCTTCTTTCAGGAGGGATG	0.488000													6	22					0	0	0.001168	0	0
LUZP2	338645	broad.mit.edu	37	11	24998210	24998210	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:24998210G>A	ENST00000533227.1	+	8	625	c.339_splice	c.e8+1	p.R113_splice	LUZP2_ENST00000336930.6_Splice_Site_p.R199_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	199						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCTTGACAGGGTAAGTCTA	0.318000													14	6					0	0	0.004007	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490926	141490926	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141490926C>T	ENST00000247883.4	+	1	910	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	255					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CCAGTGTCTTCATCTGGGAGA	0.488000													44	78					0	0	0.003610	0	0
TXK	7294	broad.mit.edu	37	4	48097181	48097181	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:48097181G>A	ENST00000264316.4	-	7	645	c.560C>T	c.(559-561)tCc>tTc	p.S187F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	187	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CATAAATACGGAAATTGTGTA	0.348000													5	16					0	0	0.001168	0	0
FAM181A	90050	broad.mit.edu	37	14	94395403	94395403	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94395403G>A	ENST00000267594.5	+	3	1265	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FAM181A_ENST00000556222.1_Missense_Mutation_p.D258N|FAM181A_ENST00000557719.1_Missense_Mutation_p.D258N|FAM181A_ENST00000557000.2_Missense_Mutation_p.D258N	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	320										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCTCTGCAAGGATGTGGACGG	0.662000													17	17					0	0	0.001523	0	0
DACH1	1602	broad.mit.edu	37	13	72053391	72053391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:72053391C>T	ENST00000305425.4	-	8	2208	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	DACH1_ENST00000313174.7_Missense_Mutation_p.E448K|DACH1_ENST00000359684.2_Missense_Mutation_p.E648K|DACH1_ENST00000354591.4_Missense_Mutation_p.E394K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	646					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCAGTTTTTTCCAGTTGGACC	0.373000													18	27					0	0	0.001523	0	0
KLHL13	90293	broad.mit.edu	37	X	117033005	117033005	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:117033005C>T	ENST00000371876.1	-	6	4102	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	KLHL13_ENST00000262820.3_Missense_Mutation_p.D612N|KLHL13_ENST00000371878.1_Missense_Mutation_p.D561N|KLHL13_ENST00000539496.1_Missense_Mutation_p.D615N|KLHL13_ENST00000541812.1_Missense_Mutation_p.D596N|KLHL13_ENST00000371882.1_Missense_Mutation_p.D561N|KLHL13_ENST00000545703.1_Missense_Mutation_p.D570N|KLHL13_ENST00000540167.1_Missense_Mutation_p.D596N|KLHL13_ENST00000469946.1_Missense_Mutation_p.D561N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	612					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCATCTTTATCTGGATCATAT	0.423000													28	13					0	0	0.001786	0	0
THSD7A	221981	broad.mit.edu	37	7	11445927	11445927	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:11445927C>T	ENST00000423059.3	-	22	4488	c.4237_splice	c.e22+1	p.G1413_splice	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1413						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCGTTGTTACCTGGGCAAGGC	0.418000										HNSCC(18;0.044)			44	54					0	0	0.003610	0	0
VEPH1	79674	broad.mit.edu	37	3	157213110	157213110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:157213110C>T	ENST00000362010.2	-	2	336	c.29G>A	c.(28-30)gGa>gAa	p.G10E	VEPH1_ENST00000537559.1_Missense_Mutation_p.G10E|VEPH1_ENST00000468233.1_Missense_Mutation_p.G10E|VEPH1_ENST00000543418.1_Missense_Mutation_p.G10E|VEPH1_ENST00000494677.1_Missense_Mutation_p.G10E|VEPH1_ENST00000392832.2_Missense_Mutation_p.G10E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G10E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	10						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATCTTTTTGTCCCAAAACCAG	0.428000													43	50					0	0	0.002852	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475556	140475556	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140475556C>T	ENST00000194155.4	+	1	1330	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		394	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTTTTTTCTTGAAACCTT	0.493000													17	28					0	0	0.006122	0	0
LTBP1	4052	broad.mit.edu	37	2	33468816	33468816	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:33468816G>A	ENST00000404816.2	+	10	2317	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	LTBP1_ENST00000404525.1_Missense_Mutation_p.G329E|LTBP1_ENST00000402934.1_Missense_Mutation_p.G329E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G329E|LTBP1_ENST00000407925.1_Missense_Mutation_p.G329E|LTBP1_ENST00000418533.2_Missense_Mutation_p.G329E|LTBP1_ENST00000354476.3_Missense_Mutation_p.G655E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	655	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCAAAATAGGATTTGGGCCG	0.383000													23	27					0	0	0.005443	0	0
CCDC108	255101	broad.mit.edu	37	2	219870227	219870227	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219870227G>A	ENST00000341552.5	-	32	5063	c.4980C>T	c.(4978-4980)tcC>tcT	p.S1660S	CCDC108_ENST00000453220.1_Silent_p.S1660S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.S1660S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1660						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTTAGGGGATTTTTCCT	0.552000													20	26					0	0	0.002299	0	0
SHC2	25759	broad.mit.edu	37	19	425190	425190	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:425190G>A	ENST00000264554.6	-	10	1215	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	406	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGTCCGGGGGGCCCCGGGCG	0.682000													22	20					0	0	0.001882	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481316	+	RNA	SNP	T	T	C	rs140068138	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3																						CTCTGCCCACTGCCCCTCCAG	0.547000													3	12					0	0	0.004482	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001263	13001263	+	Silent	SNP	C	C	T	rs150586267		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:13001263C>T	ENST00000376189.1	-	3	519	c.420G>A	c.(418-420)agG>agA	p.R140R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.R140R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	140										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTCTCATCCTTGGACAGT	0.507000													86	211					0	0	0.003610	0	0
AGBL5	60509	broad.mit.edu	37	2	27276421	27276421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:27276421C>T	ENST00000360131.4	+	3	526	c.367C>T	c.(367-369)Cga>Tga	p.R123*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.R123*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	123					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAACGCATTCGAGACCGGCC	0.498000													23	28					0	0	0.002299	0	0
DCDC1	341019	broad.mit.edu	37	11	30932947	30932947	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:30932947T>C	ENST00000597505.1	-	26	3673	c.3674A>G	c.(3673-3675)aAc>aGc	p.N1225S	DCDC1_ENST00000339794.5_Missense_Mutation_p.N304S|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAGGTCAGGGTTACTCACAAG	0.428000													5	4					0	0	0.001984	0	0
HDAC9	9734	broad.mit.edu	37	7	18875168	18875168	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:18875168G>A	ENST00000406451.3	+	20	2686	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	HDAC9_ENST00000401921.1_Missense_Mutation_p.D805N|HDAC9_ENST00000441542.2_Missense_Mutation_p.D849N|HDAC9_ENST00000432645.2_Missense_Mutation_p.D846N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	846	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCATCGCTATGATGAAGGGAA	0.453000													14	22					0	0	0.002450	0	0
RPL4	6124	broad.mit.edu	37	15	66797720	66797720	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:66797720G>A	ENST00000568588.1	-	0	444				RPL4_ENST00000564517.1_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000307897.5_Missense_Mutation_p.R15H|ZWILCH_ENST00000535141.2_5'UTR			P36578	RL4_HUMAN	ribosomal protein L4						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTTTATTCTCGTCTCCTTCAG	0.592000													40	49					0	0	0.003214	0	0
AAGAB	79719	broad.mit.edu	37	15	67501878	67501878	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:67501878C>T	ENST00000261880.5	-	6	644	c.540G>A	c.(538-540)agG>agA	p.R180R	AAGAB_ENST00000542650.1_Silent_p.R71R|AAGAB_ENST00000561452.1_Silent_p.R71R|AAGAB_ENST00000538028.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	180					protein transport	cytoplasm		p.R180S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGCCTTGGTTCCTATCTGAAA	0.373000													53	73					0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	96706639	96706639	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:96706639C>T	ENST00000389672.5	+	3	954	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R306C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R212C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	211						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTCACTGTTCGTAACTTGGC	0.458000													99	88					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65393461	65393461	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:65393461C>T	ENST00000519389.1	+	4	784	c.605C>T	c.(604-606)cCa>cTa	p.P202L	HEPH_ENST00000343002.2_Missense_Mutation_p.P148L|HEPH_ENST00000441993.2_Missense_Mutation_p.P151L|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.P151L|HEPH_ENST00000374727.3_Missense_Mutation_p.P151L			Q9BQS7	HEPH_HUMAN	hephaestin	148	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCTCTGGGCCACTGAAAGCT	0.527000													3	17					0	0	0.000602	0	0
RAD23A	5886	broad.mit.edu	37	19	13063556	13063556	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:13063556G>A	ENST00000586534.1	+	8	928	c.867G>A	c.(865-867)ggG>ggA	p.G289G	RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Silent_p.G124G|RAD23A_ENST00000316856.3_Silent_p.G288G			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	289					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGCCCCCTGGGGAGCTGGCGG	0.617000								Nucleotide excision repair (NER)					13	30					0	0	0.004990	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381503	133381503	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:133381503G>A	ENST00000204726.3	-	7	1954	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	GOLGA3_ENST00000456883.2_Silent_p.L466L|GOLGA3_ENST00000450791.2_Silent_p.L466L|GOLGA3_ENST00000545875.1_Silent_p.L466L|GOLGA3_ENST00000537452.1_Silent_p.L466L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	466					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCGAGCTCAGCGAATCCTGC	0.632000													26	31					0	0	0.004656	0	0
PLB1	151056	broad.mit.edu	37	2	28816855	28816855	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:28816855T>C	ENST00000329020.6	+	21	1468	c.1402T>C	c.(1402-1404)Ttc>Ctc	p.F468L	PLB1_ENST00000327757.5_Intron|PLB1_ENST00000422425.2_Intron			Q6P1J6	PLB1_HUMAN	phospholipase B1	780	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TAAACCAGGGTTCTTATCAGA	0.388000													4	5					0	0	0.000602	0	0
ACSM1	116285	broad.mit.edu	37	16	20702472	20702472	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:20702472G>A	ENST00000307493.4	-	1	106	c.39C>T	c.(37-39)atC>atT	p.I13I	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.I13I	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	13					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGATTTGTGGATGCCCCAGA	0.537000													24	100					0	0	0.003330	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212883	132212883	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:132212883C>T	ENST00000261674.4	+	7	1132	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R331C	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	331					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	p.R331C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTTGTTCGTAAGGCACA	0.552000													9	35					0	0	0.006214	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782984	115782984	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:115782984C>T	ENST00000343348.6	-	19	3205	c.2418G>A	c.(2416-2418)cgG>cgA	p.R806R	SEMA6A_ENST00000257414.8_Silent_p.R823R|SEMA6A_ENST00000503865.1_Silent_p.R185R|SEMA6A_ENST00000282394.6_Silent_p.R283R|SEMA6A_ENST00000510263.1_Silent_p.R806R|SEMA6A_ENST00000513137.1_Silent_p.R233R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	806	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGGGGAGGCCCGCAGGGGCA	0.652000													16	25					0	0	0.003163	0	0
EPN2	22905	broad.mit.edu	37	17	19216440	19216440	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:19216440C>T	ENST00000314728.5	+	7	1479	c.995C>T	c.(994-996)aCt>aTt	p.T332I	EPN2_ENST00000571254.1_Splice_Site_p.T268_splice|EPN2_ENST00000575595.1_Splice_Site_p.T40_splice|EPN2_ENST00000395626.1_Missense_Mutation_p.T332I|EPN2_ENST00000347697.2_Missense_Mutation_p.T275I|EPN2_ENST00000395620.2_Missense_Mutation_p.T275I|EPN2_ENST00000395618.3_Missense_Mutation_p.T47I	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	332					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCACAGCAGACTACGCTGTTG	0.527000													32	56					0	0	0.004289	0	0
OR5M8	219484	broad.mit.edu	37	11	56257929	56257929	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:56257929C>T	ENST00000327216.2	-	1	942	c.918G>A	c.(916-918)atG>atA	p.M306I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGTATATCTTCATTGACAGCT	0.299000													5	4					0	0	0.000602	0	0
SP7	121340	broad.mit.edu	37	12	53722082	53722082	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53722082C>T	ENST00000536324.2	-	3	1427	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	SP7_ENST00000537210.2_Missense_Mutation_p.G364S|SP7_ENST00000303846.3_Missense_Mutation_p.G382S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGAGGGGGACCCGGGCCTGGT	0.677000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	0.003080	0	0
CARF	79800	broad.mit.edu	37	2	203846296	203846296	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:203846296C>T	ENST00000320443.8	+	14	2620	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	CARF_ENST00000545253.1_Missense_Mutation_p.S438L|CARF_ENST00000438828.2_Missense_Mutation_p.S526L|CARF_ENST00000414439.1_Missense_Mutation_p.S424L|CARF_ENST00000402905.2_Missense_Mutation_p.S526L|CARF_ENST00000428585.1_Missense_Mutation_p.S450L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.S450L					calcium responsive transcription factor																		CCAGGAGAATCAATTACCACC	0.348000													31	66					0	0	0.002096	0	0
PRKCE	5581	broad.mit.edu	37	2	46203596	46203596	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:46203596C>T	ENST00000306156.3	+	3	768	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	147					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGTGTGTTCAGGGAACGCA	0.587000													28	38					0	0	0.007291	0	0
NAPA	8775	broad.mit.edu	37	19	47996742	47996742	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:47996742G>A	ENST00000263354.3	-	5	650	c.351C>T	c.(349-351)ttC>ttT	p.F117F	NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.F78F|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	117					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCGCAATCGTGAATCGGCCCT	0.602000													43	71					0	0	0.002522	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:13830773C>T	ENST00000265104.4	-	36	6098	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (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)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome				20	25					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179615154	179615154	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179615154G>A	ENST00000360870.5	-	46	12195	c.11973C>T	c.(11971-11973)atC>atT	p.I3991I	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9807							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)			ACGAATGAATGATAAAGTTTT	0.338000													17	25					0	0	0.008871	0	0
KIAA0825	285600	broad.mit.edu	37	5	93859772	93859772	+	Missense_Mutation	SNP	C	C	T	rs147120237		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:93859772C>T	ENST00000513200.3	-	3	235	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E55K|KIAA0825_ENST00000329378.7_Missense_Mutation_p.E55K|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E55K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	55										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTGTTAATTTCGGACTGTATC	0.323000													6	21					0	0	0.001984	0	0
SPERT	220082	broad.mit.edu	37	13	46288366	46288366	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:46288366G>A	ENST00000378966.3	+	2	1514	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	SPERT_ENST00000310521.1_Silent_p.E402E			Q8NA61	SPERT_HUMAN	spermatid associated	402						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTGTGGGAGAACAACAAGC	0.597000													5	13					0	0	0.001168	0	0
TMC5	79838	broad.mit.edu	37	16	19475337	19475337	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:19475337C>T	ENST00000396229.2	+	8	2225	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TMC5_ENST00000564959.1_Silent_p.F175F|TMC5_ENST00000561503.1_Silent_p.F133F|TMC5_ENST00000542583.2_Silent_p.F492F|TMC5_ENST00000541464.1_Silent_p.F492F|TMC5_ENST00000381414.4_Silent_p.F492F|TMC5_ENST00000219821.5_Silent_p.F246F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	492						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGTTTTTCACTGGGGTGG	0.512000													19	24					0	0	0.006122	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259824	90259824	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:90259824C>T	ENST00000471857.1	+	0	232																											TGCTCTGGCTCCCAGGTAAGG	0.522000													48	89					0	0	0.003610	0	0
OR2M4	26245	broad.mit.edu	37	1	248402602	248402602	+	Silent	SNP	G	G	A	rs113116050	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:248402602G>A	ENST00000306687.1	+	1	372	c.372G>A	c.(370-372)gtG>gtA	p.V124V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCGCTATGTGGCTATATGTC	0.473000													22	61					0	0	0.002299	0	0
KCND1	3750	broad.mit.edu	37	X	48823477	48823477	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:48823477C>T	ENST00000218176.3	-	2	2455	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	KCND1_ENST00000376477.1_Silent_p.K9K	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	386						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCCGAAAATCTTGCCAGCAA	0.572000													8	19					0	0	0.006214	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554070	223554070	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:223554070G>A	ENST00000446656.3	+	3	360	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	120					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GAGCCTTTGGGAATTTTTCTG	0.413000													21	29					0	0	0.001882	0	0
OR10A7	121364	broad.mit.edu	37	12	55615224	55615224	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:55615224C>T	ENST00000326258.1	+	1	416	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGAACAGGTCCCTATGCTTG	0.468000													13	32					0	0	0.001368	0	0
SLK	9748	broad.mit.edu	37	10	105762727	105762727	+	Silent	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:105762727T>G	ENST00000369755.3	+	9	2336	c.1791T>G	c.(1789-1791)acT>acG	p.T597T	SLK_ENST00000335753.4_Silent_p.T597T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	597	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTGGTGGTACTAAGGAAGTTC	0.383000													7	10					0	0	0.001984	0	0
EPHA4	2043	broad.mit.edu	37	2	222298879	222298879	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:222298879C>T	ENST00000281821.2	-	14	2520	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	EPHA4_ENST00000409854.1_Missense_Mutation_p.D827N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D776N|EPHA4_ENST00000409938.1_Missense_Mutation_p.D827N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	827	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGGACATATCCCAATAGGGC	0.418000													25	27					0	0	0.005443	0	0
FTHL17	53940	broad.mit.edu	37	X	31089935	31089935	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:31089935C>T	ENST00000359202.3	-	1	235	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	46	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGGCCACGTCGTCCCGGTTG	0.587000													10	53					0	0	0.000978	0	0
NUAK2	81788	broad.mit.edu	37	1	205273115	205273115	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:205273115C>T	ENST00000367157.3	-	7	1476	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	450					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCGGGGCTTCTTGAGAATGC	0.642000													11	26					0	0	0.008291	0	0
FLG2	388698	broad.mit.edu	37	1	152331324	152331324	+	Missense_Mutation	SNP	C	C	T	rs145399495		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152331324C>T	ENST00000388718.5	-	2	109	c.37G>A	c.(37-39)Gat>Aat	p.D13N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	13	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAAAACATCAATTACGGTG	0.408000													15	56					0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10399431	10399431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10399431C>A	ENST00000226207.5	-	35	5099	c.5005G>T	c.(5005-5007)Gag>Tag	p.E1669*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1669						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAGGTCCTCCTGGCTCCGG	0.582000													15	28					6.72482e-11	8.0706e-11	0.003163	1	0
KIAA1468	57614	broad.mit.edu	37	18	59947636	59947636	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:59947636T>C	ENST00000398130.2	+	23	3243	c.3011T>C	c.(3010-3012)gTt>gCt	p.V1004A	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1004							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GACAAGCGGGTTGCTCCGGCC	0.443000													32	26					0	0	0.005524	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514388	166514388	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166514388G>A	ENST00000314499.7	+	5	642	c.266G>A	c.(265-267)gGa>gAa	p.G89E	CSRNP3_ENST00000342316.4_Missense_Mutation_p.G89E|CSRNP3_ENST00000409420.1_Missense_Mutation_p.G121E	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	89					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGTCAAGGGGGAAGCACCCTG	0.547000													12	19					0	0	0.000978	0	0
OR13C8	138802	broad.mit.edu	37	9	107332344	107332344	+	Missense_Mutation	SNP	G	G	A	rs148995087	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:107332344G>A	ENST00000335040.1	+	1	896	c.896G>A	c.(895-897)cGa>cAa	p.R299Q		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATAGTCTGCGAAACAAGGAT	0.378000													41	3					0	0	0.006230	0	0
ABCC4	10257	broad.mit.edu	37	13	95715076	95715076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:95715076G>A	ENST00000376887.4	-	26	3362	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	ABCC4_ENST00000412704.1_Missense_Mutation_p.S1036F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1083	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGAGATGAGGGAACTTTTTCC	0.403000													16	46					0	0	0.006122	0	0
RNF213	57674	broad.mit.edu	37	17	78264462	78264462	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:78264462C>T	ENST00000582970.1	+	7	1349	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	RNF213_ENST00000456466.1_Silent_p.I402I|RNF213_ENST00000319921.4_Silent_p.I402I|RNF213_ENST00000508628.2_Silent_p.I451I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	402										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGTCTTCATCAGAGGAGGAG	0.522000													15	29					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179522846	179522846	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179522846G>A	ENST00000589042.1	-	186	37974	c.37750C>T	c.(37750-37752)Ccc>Tcc	p.P12584S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10836	Ig-like 83.						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)			GGAGCCACGGGAATTTCTTTT	0.408000													22	44					0	0	0.002836	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110437383C>T	ENST00000378402.5	+	24	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	923			H -> R (in dbSNP:rs4735133).		immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)			4	10					0	0	0.000248	0	0
CFHR4	10877	broad.mit.edu	37	1	196883739	196883739	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:196883739G>A	ENST00000367416.2	+	8	1429	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	CFHR4_ENST00000367418.1_Missense_Mutation_p.G185E|CFHR4_ENST00000251424.4_Missense_Mutation_p.G185E|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATCAGTTATGGAAACACCACA	0.378000													10	35					0	0	0.008291	0	0
KCNH7	90134	broad.mit.edu	37	2	163374555	163374555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:163374555C>T	ENST00000332142.5	-	4	676	c.577G>A	c.(577-579)Gat>Aat	p.D193N	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.D193N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	193					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTACTGAATCATCACTGTGT	0.443000													36	55					0	0	0.004878	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494891	1494891	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:1494891G>A	ENST00000283415.3	-	3	549	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	139					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGATGGCGTCGAAGTAGGACG	0.652000													13	35					0	0	0.001855	0	0
NFRKB	4798	broad.mit.edu	37	11	129744122	129744122	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:129744122G>A	ENST00000446488.3	-	20	2268	c.2165C>T	c.(2164-2166)cCt>cTt	p.P722L	NFRKB_ENST00000304521.5_Missense_Mutation_p.P722L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P747L|NFRKB_ENST00000524746.1_Missense_Mutation_p.P722L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	722	Pro-rich.|Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGGGGTTACAGGTGTGACTGG	0.572000													25	19					0	0	0.005443	0	0
GPR116	221395	broad.mit.edu	37	6	46828529	46828529	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:46828529C>T	ENST00000283296.7	-	16	2590	c.2302G>A	c.(2302-2304)Ggg>Agg	p.G768R	GPR116_ENST00000362015.4_Missense_Mutation_p.G768R|GPR116_ENST00000545669.1_Missense_Mutation_p.G197R|GPR116_ENST00000265417.7_Missense_Mutation_p.G768R|GPR116_ENST00000456426.2_Missense_Mutation_p.G626R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	768					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCAGACTCCCAGGAGAAGAG	0.438000													15	29					0	0	0.004007	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899269	52899269	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:52899269G>A	ENST00000281741.4	-	21	2602	c.2231C>T	c.(2230-2232)cCa>cTa	p.P744L		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	744					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATCATAAGCTGGAAGAGGAGG	0.378000													12	13					0	0	0.001855	0	0
KRT75	9119	broad.mit.edu	37	12	52820623	52820623	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:52820623C>T	ENST00000252245.5	-	8	1615	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	465	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGAAACTCCCTCTCCACTCA	0.493000													14	11					0	0	0.004990	0	0
TAPBP	6892	broad.mit.edu	37	6	33281529	33281529	+	Silent	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:33281529T>G	ENST00000434618.2	-	2	495	c.150A>C	c.(148-150)ggA>ggC	p.G50G	TAPBP_ENST00000426633.2_Silent_p.G50G|TAPBP_ENST00000489157.1_Silent_p.G50G|TAPBP_ENST00000475304.1_Silent_p.G50G|TAPBP_ENST00000456592.2_Silent_p.G50G	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	50					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GTTCCCCCGGTCCCTGGCGCA	0.672000													11	45					0	0	0.000978	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013057	107013057	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:107013057C>T	ENST00000390625.2	-	0	317																											GCGGCGTATTCTGTTGTCCCA	0.502000													23	28					0	0	0.003330	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002937	52002937	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:52002937C>T	ENST00000291707.3	-	3	897	c.842G>A	c.(841-843)gGg>gAg	p.G281E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G163E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	281	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCAGGGTCCCCGGGATGGA	0.637000													23	34					0	0	0.003954	0	0
MYLK	4638	broad.mit.edu	37	3	123419745	123419745	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:123419745C>T	ENST00000360772.3	-	19	2948	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	MYLK_ENST00000360304.3_Missense_Mutation_p.G857E|MYLK_ENST00000359169.1_Missense_Mutation_p.G857E|MYLK_ENST00000475616.1_Missense_Mutation_p.G857E|MYLK_ENST00000346322.5_Missense_Mutation_p.G788E			Q15746	MYLK_HUMAN	myosin light chain kinase	857					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAACCCTGCCCTCTTGCTGG	0.657000													26	26					0	0	0.006320	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763378	92763378	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:92763378G>A	ENST00000318238.4	-	5	3123	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCACGGGCGGGCAAAAACCT	0.403000													24	54					0	0	0.004656	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14965057	14965057	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:14965057G>A	ENST00000453695.2	-	12	1068	c.624C>T	c.(622-624)ttC>ttT	p.F208F	DCLRE1C_ENST00000378278.2_Silent_p.F328F|DCLRE1C_ENST00000378249.1_Silent_p.F213F|DCLRE1C_ENST00000396817.2_Silent_p.F208F|DCLRE1C_ENST00000378258.1_Silent_p.F208F|DCLRE1C_ENST00000378242.1_5'UTR|DCLRE1C_ENST00000378254.1_Silent_p.F208F|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Silent_p.F328F|DCLRE1C_ENST00000378246.2_Silent_p.F213F|DCLRE1C_ENST00000357717.2_Silent_p.F213F|DCLRE1C_ENST00000378255.1_Silent_p.F208F	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	328					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGTAGCTCAAGAAATCTTTAA	0.418000								Non-homologous end-joining					10	20					0	0	0.001855	0	0
APC	324	broad.mit.edu	37	5	112175106	112175106	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:112175106C>T	ENST00000457016.1	+	16	4195	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	APC_ENST00000508376.2_Missense_Mutation_p.S1272L|APC_ENST00000257430.4_Missense_Mutation_p.S1272L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1272	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1272*(1)|p.K1192fs*3(1)|p.?(1)|p.S1272fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATGTTTTTCAAGATGTAGT	0.373000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	21					0	0	0.004007	0	0
DYSF	8291	broad.mit.edu	37	2	71753380	71753380	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:71753380G>A	ENST00000258104.3	+	12	1361	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	DYSF_ENST00000409651.1_Missense_Mutation_p.E394K|DYSF_ENST00000409762.1_Missense_Mutation_p.E393K|DYSF_ENST00000409582.3_Missense_Mutation_p.E393K|DYSF_ENST00000409366.1_Missense_Mutation_p.E363K|DYSF_ENST00000394120.2_Missense_Mutation_p.E363K|DYSF_ENST00000429174.2_Missense_Mutation_p.E362K|DYSF_ENST00000409744.1_Missense_Mutation_p.E363K|DYSF_ENST00000413539.2_Missense_Mutation_p.E393K|DYSF_ENST00000410020.3_Missense_Mutation_p.E394K|DYSF_ENST00000410041.1_Missense_Mutation_p.E394K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	362						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGACAAGGAGGACATTGA	0.537000													67	99					0	0	0.003610	0	0
ERBB4	2066	broad.mit.edu	37	2	212426678	212426678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212426678C>T	ENST00000342788.4	-	20	2747	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	ERBB4_ENST00000436443.1_Missense_Mutation_p.D813N|ERBB4_ENST00000402597.1_Missense_Mutation_p.D803N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	813	Protein kinase.				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)		CCAATGTTATCCTTGTGCTCG	0.458000										TSP Lung(8;0.080)			43	54					0	0	0.003214	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202318017	202318017	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:202318017A>G	ENST00000406302.3	+	1	191	c.38A>G	c.(37-39)gAg>gGg	p.E13G	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E13G|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.E13G|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E13G	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	13					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCGGGCAGAGTCGGCGCGA	0.672000													15	49					0	0	0.004990	0	0
FKBPL	63943	broad.mit.edu	37	6	32096838	32096838	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32096838G>A	ENST00000375156.3	-	2	990	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	240					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTAAAGTCAGGAGCAGCCGAA	0.592000													119	376					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10348346	10348346	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:10348346C>T	ENST00000255381.2	-	37	5523	c.5413G>A	c.(5413-5415)Gag>Aag	p.E1805K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1805					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						GCCAGCTGCTCAGCCTCATCC	0.567000													30	67					0	0	0.002445	0	0
FAM214A	56204	broad.mit.edu	37	15	52901656	52901656	+	Silent	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:52901656A>T	ENST00000261844.7	-	6	1607	c.1455T>A	c.(1453-1455)gtT>gtA	p.V485V	FAM214A_ENST00000546305.2_Silent_p.V492V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	485																	TCCTTGCAATAACATCTTGCC	0.433000													37	73					0	0	0.004289	0	0
DNAH8	1769	broad.mit.edu	37	6	38893862	38893862	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:38893862G>A	ENST00000359357.3	+	72	10597	c.10343G>A	c.(10342-10344)gGa>gAa	p.G3448E	RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3412E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3665E					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						GGATTACCAGGAGATGATCTC	0.418000													74	68					0	0	0.003610	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011173	23011173	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:23011173G>A	ENST00000390304.2	+	0	274																											ATCCCTGAGCGATTCTCCGGC	0.567000													10	15					0	0	0.006214	0	0
CHRD	8646	broad.mit.edu	37	3	184102353	184102353	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:184102353C>T	ENST00000204604.1	+	13	1715	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	CHRD_ENST00000348986.3_Missense_Mutation_p.A450V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A490V|CHRD_ENST00000545352.1_Missense_Mutation_p.A120V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	490	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCTGGGTGCCCGAGGGGCT	0.622000													79	51					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619967	77619967	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77619967G>A	ENST00000521891.2	+	3	3225	c.2777G>A	c.(2776-2778)aGt>aAt	p.S926N	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S900N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S900N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S900N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	900						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGTGAGCAGTGAGCGCTCT	0.502000										HNSCC(33;0.089)			9	8					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9067834	9067834	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9067834G>A	ENST00000397910.4	-	3	19815	c.19612C>T	c.(19612-19614)Cct>Tct	p.P6538S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6540	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						AGATGAACAGGAGAAGACGGC	0.502000													5	15					0	0	0.000602	0	0
SIX2	10736	broad.mit.edu	37	2	45233327	45233327	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:45233327G>A	ENST00000303077.6	-	2	1177	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	286						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCAGGTCCACGAGGTTGGCTG	0.647000													26	47					0	0	0.008361	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:13378289C>T	ENST00000254508.5	-	27	3764	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTACCTACCTCGTGGTGCCGC	0.647000													20	15					0	0	0.007413	0	0
TTC40	54777	broad.mit.edu	37	10	134646883	134646883	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:134646883G>A	ENST00000368586.5	-	50	7196	c.7096C>T	c.(7096-7098)Cgc>Tgc	p.R2366C	TTC40_ENST00000263170.5_Missense_Mutation_p.R527C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	527										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTATGGAGGCGATTCCACAGC	0.403000													14	41					0	0	0.001855	0	0
GRM1	2911	broad.mit.edu	37	6	146480714	146480714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:146480714G>A	ENST00000392299.2	+	3	1401	c.931G>A	c.(931-933)Gag>Aag	p.E311K	GRM1_ENST00000355289.4_Missense_Mutation_p.E311K|GRM1_ENST00000492807.2_Missense_Mutation_p.E311K|GRM1_ENST00000507907.1_Missense_Mutation_p.E311K|GRM1_ENST00000361719.2_Missense_Mutation_p.E311K|GRM1_ENST00000282753.1_Missense_Mutation_p.E311K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	311					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGTCGTGGGCGAGTTCTCACT	0.542000													12	9					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237754053	237754053	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:237754053G>A	ENST00000366574.2	+	31	4238	c.3921G>A	c.(3919-3921)ccG>ccA	p.P1307P	RYR2_ENST00000360064.6_Silent_p.P1305P|RYR2_ENST00000542537.1_Silent_p.P1291P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1307	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCATGCCGATCGAGTGCG	0.507000													59	151					0	0	0.003610	0	0
TMEM180	79847	broad.mit.edu	37	10	104232643	104232643	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:104232643C>T	ENST00000238936.4	+	7	1098	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TMEM180_ENST00000366277.2_Silent_p.F16F	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	287						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAACTTCTTCCCTCTCTTCC	0.562000													16	51					0	0	0.007413	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747040	10747040	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:10747040C>T	ENST00000586078.1	+	15	1384	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	SLC44A2_ENST00000407327.4_Silent_p.A423A|SLC44A2_ENST00000335757.5_Silent_p.A425A	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	425					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCCCAATGCCCGTTGCCAGT	0.592000													25	67					0	0	0.003954	0	0
GABPB2	126626	broad.mit.edu	37	1	151070339	151070339	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:151070339G>T	ENST00000368918.3	+	5	814	c.483G>T	c.(481-483)caG>caT	p.Q161H	GABPB2_ENST00000368916.1_Missense_Mutation_p.Q161H|GABPB2_ENST00000368917.1_Missense_Mutation_p.Q161H|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	161					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAGCAATGCAGAATCAGGTGA	0.413000													19	35					2.32416e-17	2.80109e-17	0.002299	1	0
FAM65A	79567	broad.mit.edu	37	16	67576226	67576226	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67576226G>A	ENST00000540839.3	+	14	1817	c.1597G>A	c.(1597-1599)Ggc>Agc	p.G533S	FAM65A_ENST00000042381.4_Missense_Mutation_p.G513S|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.G527S|FAM65A_ENST00000422602.2_Missense_Mutation_p.G533S|FAM65A_ENST00000379312.3_Missense_Mutation_p.G517S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	517	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGTACAACAGGCTCTGTCCC	0.597000													65	96					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482344	140482344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140482344C>T	ENST00000231130.2	+	1	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.692000													70	82					0	0	0.003610	0	0
NUDT13	25961	broad.mit.edu	37	10	74890626	74890626	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:74890626G>A	ENST00000357321.4	+	9	1142	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	NUDT13_ENST00000544879.1_Missense_Mutation_p.V216M|NUDT13_ENST00000349051.5_Missense_Mutation_p.V253M|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_Missense_Mutation_p.V145M|NUDT13_ENST00000372997.3_3'UTR	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	342							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAAGGAGTGGGTGGAAAAACA	0.502000													13	17					0	0	0.004007	0	0
FA2H	79152	broad.mit.edu	37	16	74752922	74752922	+	Silent	SNP	G	G	A	rs146684287		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:74752922G>A	ENST00000219368.3	-	5	819	c.750C>T	c.(748-750)atC>atT	p.I250I	FA2H_ENST00000544337.1_Silent_p.I37I	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	250					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGTGCAGCATGATGAGGTAAT	0.632000													24	38					0	0	0.005443	0	0
COL4A5	1287	broad.mit.edu	37	X	107846276	107846276	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:107846276C>T	ENST00000328300.6	+	28	2473	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G	COL4A5_ENST00000361603.2_Silent_p.G743G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	743	Triple-helical region.		G -> D (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCACCCGGCTTTCCAGGAC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				3	4					0	0	0.000248	0	0
OR10J3	441911	broad.mit.edu	37	1	159284281	159284281	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:159284281G>A	ENST00000332217.5	-	1	168	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATGGGGGTGTGAAGATGATGG	0.458000													28	89					0	0	0.001786	0	0
RYR2	6262	broad.mit.edu	37	1	237780706	237780706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:237780706G>A	ENST00000366574.2	+	38	6153	c.5836G>A	c.(5836-5838)Gaa>Aaa	p.E1946K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1944K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1930K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1946	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGATACAACGAAGTCATGCA	0.453000													34	27					0	0	0.006999	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208688	23208688	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:23208688C>T	ENST00000300061.2	+	6	1160	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	339				F -> S (in Ref. 1; CAA60633).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGTATCCCTTCGTCGAAGATG	0.453000													18	25					0	0	0.007413	0	0
SP7	121340	broad.mit.edu	37	12	53722081	53722081	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:53722081C>T	ENST00000536324.2	-	3	1428	c.1145G>A	c.(1144-1146)gGt>gAt	p.G382D	SP7_ENST00000537210.2_Missense_Mutation_p.G364D|SP7_ENST00000303846.3_Missense_Mutation_p.G382D	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	0.003080	0	0
GRAMD4	23151	broad.mit.edu	37	22	47064596	47064596	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:47064596G>A	ENST00000406902.1	+	12	1154	c.941G>A	c.(940-942)gGg>gAg	p.G314E	GRAMD4_ENST00000361034.3_Missense_Mutation_p.G314E			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	314					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AACCTTTTCGGGAAGATGGCT	0.647000													43	99					0	0	0.003214	0	0
MYH7	4625	broad.mit.edu	37	14	23899786	23899786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:23899786C>T	ENST00000355349.3	-	11	1144	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	328	Myosin head-like.		E -> G (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCATGAGCTCCTCAGCGTCA	0.552000													6	11					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25481249	25481249	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:25481249C>T	ENST00000453082.2	+	0	1934				SNORD115-36_ENST00000365629.1_RNA	NR_003343.1																						TGATGAGAACCTTATATTGTC	0.478000													69	134					0	0	0.003610	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337173	151337173	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:151337173G>A	ENST00000435071.1	-	12	1535	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	SELENBP1_ENST00000447402.3_Missense_Mutation_p.S360F|SELENBP1_ENST00000368868.5_Missense_Mutation_p.S422F|SELENBP1_ENST00000426705.2_Missense_Mutation_p.S464F			Q13228	SBP1_HUMAN	selenium binding protein 1	422					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCATCACAGAGCCTTCCCT	0.557000													29	87					0	0	0.007291	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394726	233394726	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233394726G>A	ENST00000258229.8	-	5	1116	c.882C>T	c.(880-882)tcC>tcT	p.S294S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	294						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTCCCTTATGGAGCCCCGGG	0.547000													29	71					0	0	0.008361	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685506	111685506	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111685506T>C	ENST00000431670.2	+	14	3535	c.3124T>C	c.(3124-3126)Ttg>Ctg	p.L1042L	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000412622.1_Silent_p.L999L|PHLDB2_ENST00000393923.3_Silent_p.L1026L|PHLDB2_ENST00000393925.3_Silent_p.L1042L|PHLDB2_ENST00000481953.1_Silent_p.L999L|PHLDB2_ENST00000495180.1_Silent_p.L533L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1042						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAGACTTTTGAAGCAGGC	0.458000													37	17					0	0	0.006230	0	0
SLC17A8	246213	broad.mit.edu	37	12	100784871	100784871	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:100784871C>T	ENST00000323346.5	+	3	760	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SLC17A8_ENST00000392989.3_Silent_p.F149F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	149					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.F149L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGGTGGTTTCATTTCAAACA	0.378000													7	22					0	0	0.003080	0	0
HCFC1	3054	broad.mit.edu	37	X	153224842	153224842	+	Silent	SNP	G	G	A	rs114030669	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:153224842G>A	ENST00000310441.7	-	9	2511	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	HCFC1_ENST00000354233.3_Silent_p.T446T|HCFC1_ENST00000369984.4_Silent_p.T515T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	515					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGTCACGGTGACAGGGG	0.612000													27	42					0	0	0.006320	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089567	43089567	+	Silent	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:43089567A>G	ENST00000359467.3	-	5	945	c.831T>C	c.(829-831)ttT>ttC	p.F277F	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CACAATCACTAAATTCATAGT	0.378000													11	32					0	0	0.008291	0	0
RAD23A	5886	broad.mit.edu	37	19	13063555	13063555	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:13063555G>A	ENST00000586534.1	+	8	927	c.866G>A	c.(865-867)gGg>gAg	p.G289E	RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Missense_Mutation_p.G124E|RAD23A_ENST00000316856.3_Missense_Mutation_p.G288E			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	289					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGCCCCCTGGGGAGCTGGCG	0.617000								Nucleotide excision repair (NER)					12	31					0	0	0.004007	0	0
ESRRB	2103	broad.mit.edu	37	14	76948420	76948420	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:76948420G>C	ENST00000380887.2	+	4	648	c.576G>C	c.(574-576)gaG>gaC	p.E192D	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.E192D|ESRRB_ENST00000261532.7_Missense_Mutation_p.E192D|ESRRB_ENST00000509242.1_Missense_Mutation_p.E192D			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGACTCAGAGAGCAGCCCAT	0.532000													10	7					0	0	0.001368	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717341	142717341	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:142717341C>T	ENST00000381779.4	-	2	1809	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	SLITRK4_ENST00000356928.1_Silent_p.L528L|SLITRK4_ENST00000338017.4_Silent_p.L528L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	528						integral to membrane		p.L528F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGCCCTCCAAGTCAATCT	0.478000													48	33					0	0	0.003610	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481283	142481283	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:142481283C>T	ENST00000603901.1	+	0	357					NR_001296.3																						CTGCCGTCATCAATGCCCATG	0.547000													11	7					0	0	0.001368	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55638912C>T	ENST00000370830.3	-	4	1660	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000													26	49					0	0	0.004656	0	0
ZNF652	22834	broad.mit.edu	37	17	47394451	47394451	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:47394451G>A	ENST00000362063.2	-	2	955	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	ZNF652_ENST00000430262.2_Missense_Mutation_p.R213C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTCTTCCTACGACCTCTTGTA	0.512000													19	22					0	0	0.001882	0	0
PHIP	55023	broad.mit.edu	37	6	79650682	79650682	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:79650682G>A	ENST00000275034.4	-	40	5361	c.5194C>T	c.(5194-5196)Cct>Tct	p.P1732S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1732					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACACTTGCAGGGACTAGGAGA	0.383000													27	43					0	0	0.008361	0	0
ZNF578	147660	broad.mit.edu	37	19	53014718	53014718	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53014718C>T	ENST00000421239.2	+	6	1328	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAGATGCCATCGTAGACTTCA	0.393000													17	36					0	0	0.006122	0	0
CD48	962	broad.mit.edu	37	1	160648856	160648856	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160648856G>A	ENST00000368046.3	-	4	805	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	240					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTAAGTAACAGGCCAAGAATG	0.478000													30	57					0	0	0.002836	0	0
TTLL4	9654	broad.mit.edu	37	2	219617875	219617875	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219617875C>T	ENST00000392102.1	+	18	3565	c.3225C>T	c.(3223-3225)ttC>ttT	p.F1075F	TTLL4_ENST00000258398.4_Silent_p.F1075F|TTLL4_ENST00000457313.1_Silent_p.F910F|TTLL4_ENST00000442769.1_Silent_p.F1011F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1075					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACAAAGGGTTCCACATGGGAG	0.517000													63	119					0	0	0.003610	0	0
NBPF3	84224	broad.mit.edu	37	1	21808248	21808248	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:21808248C>T	ENST00000318220.6	+	16	2472	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	NBPF3_ENST00000318249.5_Missense_Mutation_p.S531F|NBPF3_ENST00000342104.5_Missense_Mutation_p.S519F|NBPF3_ENST00000454000.2_Missense_Mutation_p.S461F			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	531	NBPF 4.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGGCTTTTCTCTTGACGTG	0.458000													17	10					0	0	0.002780	0	0
DSC1	1823	broad.mit.edu	37	18	28728536	28728536	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:28728536C>T	ENST00000257197.3	-	6	958	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E233K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	233	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTATCATCTTCAATTTTGATG	0.373000													12	41					0	0	0.001855	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734426	12734426	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:12734426C>T	ENST00000380682.1	+	15	2354	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	616					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGGGGAGGCCCCCTGTGAGG	0.537000													19	55					0	0	0.006122	0	0
PAX8	7849	broad.mit.edu	37	2	114002156	114002156	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:114002156G>A	ENST00000429538.3	-	4	431	c.237C>T	c.(235-237)tcC>tcT	p.S79S	AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Silent_p.S79S|PAX8_ENST00000348715.5_Silent_p.S79S|PAX8_ENST00000263334.5_Silent_p.S79S|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Silent_p.S79S|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	79	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCTTGGGCTTGGAGCCCCCTA	0.557000			T	PPARG	follicular thyroid		Thyroid dysgenesis						57	110					0	0	0.003610	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388206	104388206	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:104388206G>T	ENST00000360814.4	-	9	1079	c.674C>A	c.(673-675)tCt>tAt	p.S225Y	GLT8D2_ENST00000546436.1_Missense_Mutation_p.S225Y|GLT8D2_ENST00000548660.1_Missense_Mutation_p.S225Y	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	225						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGATTGAAAGAGCAGGTGCT	0.488000													16	24					1.62849e-17	1.96505e-17	0.004007	1	0
SCN9A	6335	broad.mit.edu	37	2	167137063	167137063	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:167137063C>T	ENST00000375387.4	-	14	2490	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K	SCN9A_ENST00000409672.1_Missense_Mutation_p.R705K|SCN9A_ENST00000303354.6_Missense_Mutation_p.R717K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R716K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	716						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTGTGCAAATCTGTACCACCA	0.373000													5	7					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:77776234C>T	ENST00000521891.2	+	11	10732	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F	ZFHX4_ENST00000050961.6_Silent_p.F3379F|ZFHX4_ENST00000455469.2_Silent_p.F3383F|ZFHX4_ENST00000518282.1_Silent_p.F3402F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)			8	8					0	0	0.004482	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387195	104387195	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:104387195G>A	ENST00000360814.4	-	10	1260	c.855C>T	c.(853-855)aaC>aaT	p.N285N	GLT8D2_ENST00000546436.1_Silent_p.N285N|GLT8D2_ENST00000548660.1_Silent_p.N285N	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	285						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GCCACAGGGGGTTAATTGTGG	0.423000													10	16					0	0	0.008291	0	0
VEGFC	7424	broad.mit.edu	37	4	177609040	177609040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:177609040C>T	ENST00000280193.2	-	5	1161	c.746G>A	c.(745-747)tGg>tAg	p.W249*	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	249					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTGATTATTCCACATGTAATT	0.463000													21	30					0	0	0.003330	0	0
BTBD11	121551	broad.mit.edu	37	12	108013806	108013806	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:108013806C>T	ENST00000280758.5	+	11	3024	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	BTBD11_ENST00000357167.4_Silent_p.I369I|BTBD11_ENST00000420571.2_Silent_p.I713I|BTBD11_ENST00000490090.2_Silent_p.I832I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	832						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTTGCGGATCGCCTTCCAGC	0.607000													4	19					0	0	0.000602	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283601	40283601	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:40283601G>A	ENST00000325157.6	-	2	402	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	51	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATAATCTCTGAGAGAGAAAT	0.418000													30	46					0	0	0.002836	0	0
DUSP16	80824	broad.mit.edu	37	12	12630159	12630159	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:12630159G>A	ENST00000228862.2	-	7	2237	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	536					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAGCCCTTAAGGCCCAGGCCA	0.577000													31	31					0	0	0.002096	0	0
NUP133	55746	broad.mit.edu	37	1	229623248	229623248	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:229623248G>A	ENST00000261396.3	-	10	1398	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	NUP133_ENST00000366679.1_Missense_Mutation_p.S436F|NUP133_ENST00000537506.1_Missense_Mutation_p.S420F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	436					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGGAAGAGAAAATTTCCC	0.403000													21	72					0	0	0.001523	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:26825473G>A	ENST00000541819.2	-	7	945	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_ENST00000545868.1_Silent_p.F140F|GABRB3_ENST00000311550.5_Silent_p.F225F|GABRB3_ENST00000400188.3_Silent_p.F154F|GABRB3_ENST00000299267.4_Silent_p.F225F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	225					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000													17	26					0	0	0.008871	0	0
HAGH	3029	broad.mit.edu	37	16	1872925	1872925	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:1872925G>A	ENST00000397356.3	-	2	596	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	HAGH_ENST00000566709.1_Silent_p.L16L|HAGH_ENST00000397353.2_Silent_p.L16L|HAGH_ENST00000455446.2_Silent_p.L64L	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	64					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.L16V(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TCAATGACCAGGTACATGTAG	0.592000													27	53					0	0	0.005443	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239695	65239695	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65239695C>T	ENST00000380230.3	+	13	1262	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	ANKDD1A_ENST00000395723.1_Silent_p.L288L|ANKDD1A_ENST00000357698.3_Silent_p.L379L|ANKDD1A_ENST00000395720.1_Silent_p.L411L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	411					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACAGCAGCTCCGTTCTGTGC	0.587000													7	20					0	0	0.003080	0	0
CXorf57	55086	broad.mit.edu	37	X	105891584	105891584	+	Missense_Mutation	SNP	G	G	A	rs142495888	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:105891584G>A	ENST00000372548.4	+	11	2055	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	CXorf57_ENST00000372544.2_Missense_Mutation_p.G552E|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	649										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CAAACAAAGGGAATTAAACCG	0.313000													28	11					0	0	0.003271	0	0
FAM83B	222584	broad.mit.edu	37	6	54804969	54804969	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:54804969C>T	ENST00000306858.7	+	5	1316	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	400										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCATACCTCCTGCTTAATA	0.443000													22	43					0	0	0.003330	0	0
NXPH3	11248	broad.mit.edu	37	17	47656142	47656142	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:47656142G>A	ENST00000328741.5	+	2	601	c.239G>A	c.(238-240)gGg>gAg	p.G80E	NXPH3_ENST00000513748.1_Missense_Mutation_p.G80E	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	80	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GGCATTCTTGGGCAGCCCCCC	0.642000													18	26					0	0	0.008871	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882643	15882643	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:15882643G>A	ENST00000285670.2	-	6	927	c.753C>T	c.(751-753)tcC>tcT	p.S251S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.S183S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	183	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGATTTTGAGGGAGTCAGTGT	0.478000													25	39					0	0	0.005443	0	0
LAT2	7462	broad.mit.edu	37	7	73638363	73638363	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:73638363G>A	ENST00000460943.1	+	12	1353	c.464G>A	c.(463-465)gGc>gAc	p.G155D	LAT2_ENST00000275635.7_Missense_Mutation_p.G155D|LAT2_ENST00000344995.5_Missense_Mutation_p.G155D|LAT2_ENST00000398475.1_Missense_Mutation_p.G155D	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	155					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGCAGGAGGGCATAGGTGGC	0.627000													8	9					0	0	0.003080	0	0
RBM44	375316	broad.mit.edu	37	2	238726791	238726791	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:238726791C>T	ENST00000316997.4	+	3	1364	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S411F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	410							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTAGATTTTTCTGCTATGCTA	0.388000													14	19					0	0	0.001855	0	0
ATF6B	1388	broad.mit.edu	37	6	32085144	32085144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32085144G>A	ENST00000375201.4	-	14	1606	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	ATF6B_ENST00000375203.3_Nonsense_Mutation_p.Q524*			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	524					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CGGCCTCTCTGGTGGCGCTGG	0.617000													41	131					0	0	0.003214	0	0
HIRA	7290	broad.mit.edu	37	22	19396072	19396072	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:19396072G>A	ENST00000263208.5	-	3	401	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	HIRA_ENST00000340170.4_Missense_Mutation_p.L49F|HIRA_ENST00000546308.1_Missense_Mutation_p.L5F|HIRA_ENST00000541063.1_Missense_Mutation_p.L5F|HIRA_ENST00000464189.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	49					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCCTCCTGGAGGACTGGAGAC	0.453000													25	40					0	0	0.006320	0	0
MECOM	2122	broad.mit.edu	37	3	168807957	168807957	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:168807957C>T	ENST00000464456.1	-	13	3841	c.2641G>A	c.(2641-2643)Gat>Aat	p.D881N	MECOM_ENST00000494292.1_Missense_Mutation_p.D1069N|MECOM_ENST00000433243.2_Missense_Mutation_p.D891N|MECOM_ENST00000472280.1_Missense_Mutation_p.D891N|MECOM_ENST00000460814.1_Missense_Mutation_p.D881N|MECOM_ENST00000468789.1_Missense_Mutation_p.D890N|MECOM_ENST00000392736.3_Missense_Mutation_p.D890N|MECOM_ENST00000264674.3_Missense_Mutation_p.D955N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTTCTTCATCATCCAGCAAG	0.348000													12	60					0	0	0.001855	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000													11	13					0	0	0.008291	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138367	126138367	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126138367G>A	ENST00000299308.3	+	9	2356	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G295E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	783						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGGGTAAAGGAAATGTCAAG	0.433000													9	33					0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55541405	55541405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:55541405C>T	ENST00000220676.1	+	4	5111	c.4963C>T	c.(4963-4965)Cag>Tag	p.Q1655*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1655					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.Q1655*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCGCAAATCTCAGGTTTGTCC	0.373000													10	67					0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127714575	127714575	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:127714575C>T	ENST00000508053.1	-	18	2586	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	FBN2_ENST00000262464.4_Missense_Mutation_p.E538K|FBN2_ENST00000508989.1_Missense_Mutation_p.E505K			P35556	FBN2_HUMAN	fibrillin 2	538	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGTGCATTCATCAACATCT	0.378000													29	43					0	0	0.003271	0	0
BDKRB1	623	broad.mit.edu	37	14	96730652	96730652	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:96730652C>T	ENST00000216629.6	+	3	1239	c.633C>T	c.(631-633)ttC>ttT	p.F211F	BDKRB1_ENST00000553356.1_Silent_p.F211F|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	211					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTCTGGGTTTCCTCCTACCAC	0.587000													22	24					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9072352	9072352	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9072352G>A	ENST00000397910.4	-	3	15297	c.15094C>T	c.(15094-15096)Ccc>Tcc	p.P5032S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5034	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						TCCACAGAGGGAGGACTTGTC	0.483000													16	31					0	0	0.004007	0	0
TTC13	79573	broad.mit.edu	37	1	231056309	231056309	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:231056309G>A	ENST00000366661.4	-	17	1937	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	TTC13_ENST00000366662.4_Missense_Mutation_p.R591W|TTC13_ENST00000414259.1_Missense_Mutation_p.R591W	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	644							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGGGCTTCCCGAACTTCCAGC	0.373000													20	73					0	0	0.004656	0	0
DMBT1	1755	broad.mit.edu	37	10	124345836	124345836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:124345836C>T	ENST00000368909.3	+	16	1826	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	DMBT1_ENST00000344338.3_Missense_Mutation_p.P564S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P564S|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P574S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	574	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGAGCTGCCCCCACAATGG	0.572000													35	38					0	0	0.004289	0	0
GRM8	2918	broad.mit.edu	37	7	126542643	126542643	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:126542643T>C	ENST00000339582.2	-	6	1917	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.K370R|GRM8_ENST00000358373.3_Missense_Mutation_p.K370R|GRM8_ENST00000405249.1_Missense_Mutation_p.K370R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	370					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATCCTAACTTGCAGCCAAA	0.368000										HNSCC(24;0.065)			19	17					0	0	0.007413	0	0
CDHR2	54825	broad.mit.edu	37	5	176004676	176004676	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:176004676C>T	ENST00000510636.1	+	14	1663	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	CDHR2_ENST00000261944.5_Silent_p.V463V|CDHR2_ENST00000506348.1_Silent_p.V463V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	463	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTTCTCCGTCGCCATGGTGA	0.637000													27	30					0	0	0.004656	0	0
EVI5	7813	broad.mit.edu	37	1	93170289	93170289	+	Silent	SNP	C	C	T	rs61735642		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:93170289C>T	ENST00000370331.1	-	3	303	c.294G>A	c.(292-294)acG>acA	p.T98T	EVI5_ENST00000543509.1_Silent_p.T98T|EVI5_ENST00000540033.1_Silent_p.T98T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	98	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTACTATCCGTTTCTAACA	0.363000													9	19					0	0	0.008291	0	0
MUC3A	4584	broad.mit.edu	37	7	100551602	100551602	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:100551602C>T	ENST00000319509.7	+	1	353	c.353C>T	c.(352-354)tCc>tTc	p.S118F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAATCAGTTCCTTTAGCACA	0.493000													90	166					0	0	0.003610	0	0
NHS	4810	broad.mit.edu	37	X	17744950	17744950	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:17744950C>T	ENST00000380060.3	+	6	2999	c.2661C>T	c.(2659-2661)acC>acT	p.T887T	NHS_ENST00000398097.3_Silent_p.T731T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	887						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATCTTCCCACCAAGCAGGAAC	0.473000													30	46					0	0	0.002836	0	0
TNN	63923	broad.mit.edu	37	1	175066613	175066613	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:175066613C>T	ENST00000239462.4	+	8	1762	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	550	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACCATCTCCTGGGACCCG	0.537000													18	29					0	0	0.007413	0	0
NSRP1	84081	broad.mit.edu	37	17	28511669	28511669	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:28511669C>T	ENST00000247026.5	+	7	717	c.654C>T	c.(652-654)tcC>tcT	p.S218S	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	218					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGGGCTTCTCCAATGAAGTAA	0.348000													18	20					0	0	0.001882	0	0
GJB4	127534	broad.mit.edu	37	1	35227548	35227548	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:35227548C>T	ENST00000339480.1	+	2	1063	c.693C>T	c.(691-693)ccC>ccT	p.P231P	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	231					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATGCCTACCCGATACGTGCC	0.622000													21	46					0	0	0.001882	0	0
RBM22	55696	broad.mit.edu	37	5	150078149	150078149	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:150078149G>A	ENST00000199814.4	-	4	304	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	61					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGCATGCGGACTCCAGGGC	0.488000													27	48					0	0	0.007291	0	0
PRG4	10216	broad.mit.edu	37	1	186269336	186269336	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:186269336T>A	ENST00000445192.2	+	3	235	c.190T>A	c.(190-192)Tgc>Agc	p.C64S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.C64S|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.C64S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	64	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGAGAGTCTGCACTGCGGG	0.537000													33	88					0	0	0.002836	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834509	101834509	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:101834509C>T	ENST00000506729.1	-	1	211	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E14K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E14K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	14						integral to membrane|plasma membrane	transporter activity	p.E14K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTGAGACTTCATCCTGGCTC	0.687000													51	66					0	0	0.003610	0	0
COPS7B	64708	broad.mit.edu	37	2	232660846	232660846	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:232660846C>T	ENST00000373608.3	+	5	465	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	COPS7B_ENST00000410017.1_Silent_p.L120L|COPS7B_ENST00000409091.1_Silent_p.L13L|COPS7B_ENST00000350033.3_Silent_p.L120L|COPS7B_ENST00000409295.1_Silent_p.L86L|COPS7B_ENST00000410024.1_Silent_p.L120L			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	120	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCTGAAAGACCTGGAGATGCG	0.478000													17	26					0	0	0.004990	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309641	89309641	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:89309641C>T	ENST00000493819.1	-	0	246																											TAGGGGCTTTCCCTGGTTTTT	0.512000													44	78					0	0	0.003610	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157282	26157282	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:26157282C>T	ENST00000325250.1	+	2	367	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	60							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						CACCTAGCATCCCTGAAGCGC	0.537000													9	25					0	0	0.008291	0	0
KCNH6	81033	broad.mit.edu	37	17	61601531	61601531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:61601531G>A	ENST00000583023.1	+	2	119	c.108G>A	c.(106-108)atG>atA	p.M36I	KCNH6_ENST00000580652.1_Missense_Mutation_p.M36I|KCNH6_ENST00000581784.1_Missense_Mutation_p.M36I|KCNH6_ENST00000456941.2_Missense_Mutation_p.M36I|KCNH6_ENST00000314672.5_Missense_Mutation_p.M36I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	36					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGCTCAGATGGAGAACTGCG	0.572000													62	84					0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408780	105408780	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:105408780G>A	ENST00000333244.5	-	7	13127	c.13008C>T	c.(13006-13008)tcC>tcT	p.S4336S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4336						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.622000													26	110					0	0	0.004656	0	0
ATP2B2	491	broad.mit.edu	37	3	10384469	10384469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:10384469G>A	ENST00000397077.1	-	18	3324	c.2749C>T	c.(2749-2751)Cag>Tag	p.Q917*	ATP2B2_ENST00000352432.4_Nonsense_Mutation_p.Q962*|ATP2B2_ENST00000383800.4_Nonsense_Mutation_p.Q917*|ATP2B2_ENST00000360273.2_Nonsense_Mutation_p.Q962*|ATP2B2_ENST00000343816.4_Nonsense_Mutation_p.Q948*			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	962					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGGCAAGCTGGTAGACAGCA	0.627000													7	21					0	0	0.001984	0	0
TENM2	57451	broad.mit.edu	37	5	167625870	167625870	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:167625870C>T	ENST00000519204.1	+	15	2668	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	TENM2_ENST00000520394.1_Silent_p.I739I|TENM2_ENST00000518659.1_Silent_p.I971I|TENM2_ENST00000545108.1_Silent_p.I971I|TENM2_ENST00000403607.2_Silent_p.I795I					teneurin transmembrane protein 2																		TCGACCTGATCGCAAATGGAG	0.562000													26	49					0	0	0.006320	0	0
MBD5	55777	broad.mit.edu	37	2	149240828	149240828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:149240828C>T	ENST00000407073.1	+	10	3665	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	MBD5_ENST00000404807.1_Missense_Mutation_p.P890S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	890						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGTGATTTTCCTTTTGTTGG	0.498000													46	48					0	0	0.003214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454404	110454404	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110454404G>A	ENST00000378402.5	+	35	4477	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1458	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCACAAGTGGAAGACAAAAA	0.343000										HNSCC(38;0.096)			7	8					0	0	0.004482	0	0
RYR1	6261	broad.mit.edu	37	19	38987054	38987054	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:38987054C>T	ENST00000355481.4	+	41	6800	c.6669C>T	c.(6667-6669)atC>atT	p.I2223I	RYR1_ENST00000360985.3_Silent_p.I2223I|RYR1_ENST00000359596.3_Silent_p.I2223I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2223	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCAGGAGATCCGCTTCCCCA	0.647000													12	31					0	0	0.001368	0	0
MGAM	8972	broad.mit.edu	37	7	141754686	141754686	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:141754686C>T	ENST00000475668.2	+	27	3346	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1098W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1098	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAAATTCGCCGGAAGAGTAC	0.498000													16	28					0	0	0.003163	0	0
ATP1A4	480	broad.mit.edu	37	1	160136852	160136852	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:160136852C>T	ENST00000368081.4	+	9	1812	c.1341C>T	c.(1339-1341)atC>atT	p.I447I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	447					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCAGGAGATCCTGCCCATTG	0.527000													16	52					0	0	0.004990	0	0
CCDC101	112869	broad.mit.edu	37	16	28602160	28602160	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:28602160C>T	ENST00000317058.3	+	9	856	c.669C>T	c.(667-669)gaC>gaT	p.D223D		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	223	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CGGAGACGGACCCTGAGGCCT	0.647000													5	15					0	0	0.000602	0	0
ATF6	22926	broad.mit.edu	37	1	161761242	161761242	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:161761242C>T	ENST00000367942.3	+	5	466	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	133	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CTCCCCTTTCCTTATATGGTG	0.393000													15	43					0	0	0.003163	0	0
HECW1	23072	broad.mit.edu	37	7	43447259	43447259	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:43447259C>T	ENST00000395891.1	+	8	1335	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.L244F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	244	C2.				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						CTTCCCCGCCCTCCCTCACCA	0.527000													10	13					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179439073	179439073	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179439073C>T	ENST00000589042.1	-	326	72010	c.71786G>A	c.(71785-71787)gGa>gAa	p.G23929E	TTN_ENST00000342175.6_Missense_Mutation_p.G15056E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22288E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21361E|TTN_ENST00000460472.2_Missense_Mutation_p.G14864E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14989E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22288	Ig-like 120.						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)			TACTGGTTTTCCAGGTGGGTC	0.428000													30	61					0	0	0.007291	0	0
RAET1K	646024	broad.mit.edu	37	6	150321297	150321297	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:150321297G>A	ENST00000533735.1	-	0	921					NR_024045.1																						CATGGCTTTGGGTTGGGTTGT	0.552000													6	1					0	0	0.001984	0	0
SERPINA6	866	broad.mit.edu	37	14	94780718	94780718	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:94780718G>T	ENST00000341584.3	-	2	414	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	90					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGGCCCTGGAGAAGCTGGGCC	0.547000													8	11					0.00307968	0.0036585	0.003080	1	0
NRP2	8828	broad.mit.edu	37	2	206592670	206592670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:206592670C>T	ENST00000360409.3	+	7	1837	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	NRP2_ENST00000357785.5_Missense_Mutation_p.S349F|NRP2_ENST00000272849.3_Missense_Mutation_p.S349F|NRP2_ENST00000540841.1_Missense_Mutation_p.S349F|NRP2_ENST00000540178.1_Missense_Mutation_p.S349F|NRP2_ENST00000355117.4_Missense_Mutation_p.S349F|NRP2_ENST00000412873.2_Missense_Mutation_p.S349F|NRP2_ENST00000417189.1_Missense_Mutation_p.S349F|NRP2_ENST00000357118.4_Missense_Mutation_p.S349F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	349	F5/8 type C 1.				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						GGAGCGATTTCCAGGGAAACA	0.512000													9	18					0	0	0.006214	0	0
OR8B12	219858	broad.mit.edu	37	11	124412706	124412706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:124412706G>A	ENST00000306842.2	-	1	869	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		GTTTAACACGGGGACTATTAT	0.428000													11	8					0	0	0.002450	0	0
CHD5	26038	broad.mit.edu	37	1	6214781	6214781	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:6214781G>A	ENST00000262450.3	-	5	783	c.684C>T	c.(682-684)gtC>gtT	p.V228V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	228					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGGGGGGCTGACGGCTAGCG	0.687000													12	17					0	0	0.002450	0	0
ULBP2	80328	broad.mit.edu	37	6	150263263	150263263	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:150263263C>T	ENST00000367351.3	+	1	128	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	19					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTGCTCCTGCTGTCCGGCTG	0.647000													8	3					0	0	0.003080	0	0
POU2F2	5452	broad.mit.edu	37	19	42599549	42599549	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:42599549C>T	ENST00000389341.5	-	11	1038	c.972G>A	c.(970-972)gtG>gtA	p.V324V	POU2F2_ENST00000533720.1_Silent_p.V324V|POU2F2_ENST00000529952.1_Silent_p.V340V|POU2F2_ENST00000560398.1_Silent_p.V346V|POU2F2_ENST00000529067.1_Silent_p.V324V|POU2F2_ENST00000526816.2_Silent_p.V340V|POU2F2_ENST00000342301.4_Silent_p.V340V|POU2F2_ENST00000560558.1_Silent_p.V285V	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	340					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGACGCGGATCACTTCCTTCT	0.637000													8	18					0	0	0.003080	0	0
DRC1	92749	broad.mit.edu	37	2	26677515	26677515	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:26677515G>A	ENST00000288710.2	+	15	1994	c.1919_splice	c.e15-1	p.R640_splice		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TGGCCTTCAGGGACTCGCGGG	0.592000													21	37					0	0	0.003330	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714034	32714034	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:32714034C>T	ENST00000374940.3	+	4	733	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	211	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATTCCAGCCCCTATGTCAGA	0.577000													31	97					0	0	0.008361	0	0
ZNF25	219749	broad.mit.edu	37	10	38245986	38245986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:38245986C>T	ENST00000302609.7	-	4	412	c.200G>A	c.(199-201)tGg>tAg	p.W67*	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCTAATATCCATGGCTCTTT	0.398000													10	36					0	0	0.006214	0	0
LIMCH1	22998	broad.mit.edu	37	4	41678479	41678479	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:41678479G>A	ENST00000313860.7	+	18	2421	c.2367_splice	c.e18+1	p.Q789_splice	LIMCH1_ENST00000508501.1_Splice_Site_p.Q788_splice|LIMCH1_ENST00000512820.1_Splice_Site_p.Q801_splice|LIMCH1_ENST00000396595.3_Splice_Site_p.Q634_splice|LIMCH1_ENST00000509277.1_Splice_Site_p.Q622_splice|LIMCH1_ENST00000514096.1_Splice_Site_p.Q629_splice|LIMCH1_ENST00000513024.1_Splice_Site_p.Q642_splice|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000512946.1_Splice_Site_p.Q789_splice|LIMCH1_ENST00000503057.1_Splice_Site_p.Q1173_splice|LIMCH1_ENST00000381753.4_Splice_Site_p.Q622_splice|LIMCH1_ENST00000511496.1_Splice_Site_p.Q629_splice	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	789	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTTGCTCCAGGTAGGATGGA	0.423000													4	25					0	0	0.000602	0	0
GEM	2669	broad.mit.edu	37	8	95272478	95272478	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:95272478C>T	ENST00000297596.2	-	2	518	c.254G>A	c.(253-255)gGg>gAg	p.G85E	GEM_ENST00000396194.2_Missense_Mutation_p.G85E	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	85					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)			CTTGCCCACCCCCTGCTCCCC	0.607000													13	25					0	0	0.001855	0	0
ROS1	6098	broad.mit.edu	37	6	117700253	117700253	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:117700253G>A	ENST00000368508.3	-	17	2764	c.2566C>T	c.(2566-2568)Cac>Tac	p.H856Y	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H851Y	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	856					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGTACAGGTGAATACATTGA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								15	10					0	0	0.004007	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804628	113804628	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:113804628C>T	ENST00000281273.4	+	10	1382	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	QTRTD1_ENST00000485050.1_Silent_p.A387A|QTRTD1_ENST00000493014.1_Silent_p.A269A|QTRTD1_ENST00000479882.1_Silent_p.A252A	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	375					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AGCTGCTGGCCGGAGTCCTGC	0.478000													13	58					0	0	0.001855	0	0
STK19	8859	broad.mit.edu	37	6	31940127	31940127	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:31940127C>T	ENST00000375331.2	+	2	435	c.269C>T	c.(268-270)cCt>cTt	p.P90L	STK19_ENST00000375333.2_Missense_Mutation_p.P90L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	90						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCGGAAGACCCTATTTTCAGG	0.577000													39	108					0	0	0.002222	0	0
ZNF839	55778	broad.mit.edu	37	14	102792712	102792712	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:102792712C>T	ENST00000262236.5	+	2	686	c.331C>T	c.(331-333)Cca>Tca	p.P111S	ZNF839_ENST00000442396.2_Missense_Mutation_p.P227S|ZNF839_ENST00000559185.1_Missense_Mutation_p.P111S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P111S	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	111						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCAGCACATCCATTTATTTC	0.458000													3	5					0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166866236	166866236	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166866236C>T	ENST00000423058.2	-	20	4012	c.3995G>A	c.(3994-3996)gGg>gAg	p.G1332E	SCN1A_ENST00000303395.4_Missense_Mutation_p.G1332E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1321E|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1304E|AC010127.3_ENST00000595647.1_RNA|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	1332						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)	TACCCTCATCCCTTCAAATCG	0.358000													8	20					0	0	0.004482	0	0
TPD52L3	89882	broad.mit.edu	37	9	6329004	6329004	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:6329004A>G	ENST00000344545.5	+	1	656	c.409A>G	c.(409-411)Aga>Gga	p.R137G	TPD52L3_ENST00000381428.1_Intron|TPD52L3_ENST00000314556.3_Intron	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	137							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AGGGGGCAAAAGAGCTTGGCC	0.542000													22	7					0	0	0.002780	0	0
REG1P	5969	broad.mit.edu	37	2	79364323	79364323	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:79364323C>T	ENST00000444841.1	-	0	285																											CGTGAGCCTCCCTTCCCACAC	0.522000													6	16					0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216062314	216062314	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:216062314G>A	ENST00000366943.2	-	41	8063	c.7677C>T	c.(7675-7677)tcC>tcT	p.S2559S	USH2A_ENST00000307340.3_Silent_p.S2559S|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2559	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAACCCCATTGGATTTTCTAG	0.398000										HNSCC(13;0.011)			11	55					0	0	0.008291	0	0
SETDB2	83852	broad.mit.edu	37	13	50065877	50065877	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:50065877A>T	ENST00000354234.4	+	14	2922	c.2016A>T	c.(2014-2016)aaA>aaT	p.K672N	SETDB2_ENST00000317257.8_Missense_Mutation_p.K684N	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	684	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GGTATGTGAAAGCAAGAACAG	0.323000													12	17					0	0	0.001855	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089568	43089568	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:43089568A>T	ENST00000359467.3	-	5	944	c.830T>A	c.(829-831)tTt>tAt	p.F277Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATCACTAAATTCATAGTG	0.383000													10	32					0	0	0.006214	0	0
GAPT	202309	broad.mit.edu	37	5	57790482	57790482	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:57790482G>A	ENST00000396776.2	+	3	581	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	GAPT_ENST00000318469.2_Missense_Mutation_p.R40Q	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	40					B cell activation	integral to membrane|plasma membrane		p.R40Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GTTGCCACACGATTTACCTTA	0.433000													12	20					0	0	0.001855	0	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:135438925C>T	ENST00000443774.1	-	4	567	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	FRG2B_ENST00000425520.1_Missense_Mutation_p.R172Q			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000													5	104					0	0	0.001984	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250211	140250211	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140250211C>T	ENST00000398640.2	+	1	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTGCACGCG	0.701000													51	66					0	0	0.003610	0	0
VWF	7450	broad.mit.edu	37	12	6138638	6138638	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6138638G>A	ENST00000261405.5	-	22	3091	c.2837C>T	c.(2836-2838)cCc>cTc	p.P946L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	946	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCCTTCATGGGCCTCTTCAC	0.572000													7	16					0	0	0.003080	0	0
PARD3B	117583	broad.mit.edu	37	2	206165332	206165332	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:206165332C>T	ENST00000406610.2	+	17	2471	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A693V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A755V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A755V|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	755					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTGCAGTGGCCGAGGTCAGG	0.522000													42	54					0	0	0.006999	0	0
KCNK10	54207	broad.mit.edu	37	14	88729835	88729835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:88729835G>A	ENST00000340700.5	-	2	549	c.98C>T	c.(97-99)cCg>cTg	p.P33L	KCNK10_ENST00000312350.5_Missense_Mutation_p.P38L|KCNK10_ENST00000319231.5_Missense_Mutation_p.P38L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	33					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGCCGGAGCCGGGGGTTGCCC	0.647000													36	35					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179616367	179616367	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179616367C>T	ENST00000360870.5	-	46	10982	c.10760G>A	c.(10759-10761)gGg>gAg	p.G3587E	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3582							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)			TTCTGCAGACCCTTCACTATT	0.383000													35	52					0	0	0.004878	0	0
KCNB2	9312	broad.mit.edu	37	8	73848429	73848429	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:73848429C>T	ENST00000523207.1	+	3	1427	c.839C>T	c.(838-840)aCc>aTc	p.T280I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	280					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TACTATGTCACCATTTTTCTG	0.473000													6	38					0	0	0.001168	0	0
BMP5	653	broad.mit.edu	37	6	55739275	55739275	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55739275G>A	ENST00000370830.3	-	1	1087	c.389C>T	c.(388-390)tCt>tTt	p.S130F	BMP5_ENST00000446683.2_Missense_Mutation_p.S130F	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	130					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGTCGTCCGAGATAACTGTAT	0.517000													15	22					0	0	0.004007	0	0
FBXO44	93611	broad.mit.edu	37	1	11718602	11718602	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:11718602G>A	ENST00000376768.1	+	4	478	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	FBXO44_ENST00000251547.5_Silent_p.K135K|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376770.1_Silent_p.K135K|FBXO44_ENST00000251546.4_Intron			Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCTCAAGTCCCAGGTGG	0.657000													16	14					0	0	0.004007	0	0
PSG3	5671	broad.mit.edu	37	19	43237007	43237007	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43237007C>T	ENST00000327495.5	-	3	822	c.638G>A	c.(637-639)gGa>gAa	p.G213E	PSG3_ENST00000595140.1_Missense_Mutation_p.G213E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	213	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTCATAGGGTCCTGCAGTGTA	0.502000													91	140					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179569645	179569645	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:179569645C>T	ENST00000589042.1	-	104	29877	c.29653G>A	c.(29653-29655)Gaa>Aaa	p.E9885K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9568K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8641K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9568	Pro-rich.						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)			GATACAAGTTCCTCAAATTCC	0.308000													37	58					0	0	0.007835	0	0
MXRA5	25878	broad.mit.edu	37	X	3238414	3238414	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:3238414C>T	ENST00000217939.6	-	5	5466	c.5312G>A	c.(5311-5313)aGg>aAg	p.R1771K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1771						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAATGTATCCTGTTGTAGGA	0.522000													12	22					0	0	0.001855	0	0
KIAA1257	57501	broad.mit.edu	37	3	128712088	128712088	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:128712088G>A	ENST00000265068.5	-	2	227	c.60C>T	c.(58-60)tcC>tcT	p.S20S	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Silent_p.S20S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	20										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AGCTAGTGATGGAGGAGATGG	0.637000													13	11					0	0	0.001368	0	0
CALR3	125972	broad.mit.edu	37	19	16591475	16591475	+	Missense_Mutation	SNP	C	C	T	rs143334090		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:16591475C>T	ENST00000269881.3	-	8	1023	c.961G>A	c.(961-963)Gat>Aat	p.D321N	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	321	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TACTCTTCATCATCTGTGATC	0.358000													12	20					0	0	0.001855	0	0
LGR6	59352	broad.mit.edu	37	1	202197125	202197125	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:202197125C>T	ENST00000367278.3	+	3	435	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	LGR6_ENST00000439764.2_Silent_p.L73L|LGR6_ENST00000255432.7_Silent_p.L64L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	116						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTACAGCCTGAAAATCCT	0.463000													15	52					0	0	0.006122	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488762	73488762	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:73488762C>T	ENST00000314256.7	+	15	2198	c.1804C>T	c.(1804-1806)Ctg>Ttg	p.L602L	KIAA0195_ENST00000579208.1_Silent_p.L253L|KIAA0195_ENST00000375248.5_Silent_p.L612L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	602					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGAGCGCCTGTGCCGATT	0.637000													27	59					0	0	0.007291	0	0
SYT16	83851	broad.mit.edu	37	14	62462960	62462960	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:62462960G>A	ENST00000430451.2	+	1	420	c.223G>A	c.(223-225)Gat>Aat	p.D75N	SYT16_ENST00000446982.2_Missense_Mutation_p.D75N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	75										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACAAGACAATGATTGGAGTCA	0.368000													22	69					0	0	0.001523	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224374	172224374	+	Missense_Mutation	SNP	C	C	T	rs145536359		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:172224374C>T	ENST00000241261.2	-	5	876	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	252					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.E252K(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGTCATTTTCCTTAAGCTCA	0.373000													7	42					0	0	0.003080	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612252	8612252	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:8612252C>T	ENST00000382073.3	+	3	367	c.181C>T	c.(181-183)Cat>Tat	p.H61Y		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	61					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACACTCATATCATTCAAGTCT	0.373000													13	57					0	0	0.004007	0	0
XRN2	22803	broad.mit.edu	37	20	21335474	21335474	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:21335474C>T	ENST00000377191.3	+	21	2079	c.1984C>T	c.(1984-1986)Cta>Tta	p.L662L	XRN2_ENST00000539513.1_Silent_p.L608L|XRN2_ENST00000430571.2_Silent_p.L586L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	662					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACGAGCTGCCCTAGAAGAGGT	0.413000													7	33					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152281696	152281696	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:152281696G>A	ENST00000368799.1	-	3	5701	c.5666C>T	c.(5665-5667)tCc>tTc	p.S1889F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1889	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCGAGAGGAAGCTTCATG	0.577000									Ichthyosis				90	226					0	0	0.003610	0	0
ZNF101	94039	broad.mit.edu	37	19	19790846	19790846	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:19790846C>T	ENST00000592502.1	+	4	1158	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	ZNF101_ENST00000415784.2_Missense_Mutation_p.P230S			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTTCAATTATCCCAGTTGTTT	0.408000													13	16					0	0	0.002450	0	0
UNC13C	440279	broad.mit.edu	37	15	54860014	54860014	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:54860014G>A	ENST00000545554.1	+	29	5975	c.5975G>A	c.(5974-5976)gGa>gAa	p.G1992E	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1992E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1990E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1992	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCATGCAGGAGGAAATGGC	0.363000													5	5					0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61831382	61831382	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:61831382C>T	ENST00000280772.1	-	37	9448	c.9257G>A	c.(9256-9258)gGg>gAg	p.G3086E	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3086					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATCTCTTTCCCTCCCTCTGT	0.418000													18	63					0	0	0.004990	0	0
DYX1C1	161582	broad.mit.edu	37	15	55783387	55783387	+	Silent	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:55783387T>C	ENST00000321149.3	-	4	706	c.339A>G	c.(337-339)gaA>gaG	p.E113E	DYX1C1_ENST00000457155.2_Silent_p.E113E|DYX1C1_ENST00000348518.3_Silent_p.E113E|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Silent_p.E113E|DYX1C1_ENST00000380679.1_Silent_p.E113E	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	113					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTCTGTAGCTTCTTTTGCTC	0.358000													22	29					0	0	0.001523	0	0
PCSK1	5122	broad.mit.edu	37	5	95735873	95735873	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:95735873C>T	ENST00000311106.3	-	10	1451	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R358Q|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	405	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R405Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCATATCTCGCCAGGTGAG	0.478000													28	31					0	0	0.001786	0	0
SMURF2	64750	broad.mit.edu	37	17	62594524	62594524	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:62594524G>A	ENST00000262435.9	-	3	363	c.176C>T	c.(175-177)cCa>cTa	p.P59L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	59	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATTCCACTTTGGATCAAGCGT	0.353000													27	40					0	0	0.001786	0	0
SSPO	23145	broad.mit.edu	37	7	149498854	149498854	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:149498854C>T	ENST00000378016.2	+	0	7306							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCCCTTCTCTCCCTGCCTT	0.597000													15	12					0	0	0.004990	0	0
GHITM	27069	broad.mit.edu	37	10	85909908	85909908	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:85909908C>T	ENST00000372134.3	+	7	883	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	230					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAGGCCTCTCCACTGTGGCCA	0.567000													39	32					0	0	0.006230	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:73063804G>A	ENST00000429829.1	-	0	8784					NR_001564.2																						GCCTTGGAGGGAAACAGTATA	0.383000													13	3					0	0	0.001855	0	0
BMP10	27302	broad.mit.edu	37	2	69093535	69093535	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69093535A>C	ENST00000295379.1	-	2	661	c.503T>G	c.(502-504)tTt>tGt	p.F168C		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	168					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CAGCACTTCAAAAATGGTAAT	0.453000													17	27					0	0	0.006122	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870578	51870578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:51870578C>T	ENST00000371497.5	+	2	1468	c.581C>T	c.(580-582)tCg>tTg	p.S194L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S191L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S191L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	194					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTTCAGCTCGGTGCAGTTG	0.562000													28	16					0	0	0.006320	0	0
ZNF320	162967	broad.mit.edu	37	19	53383908	53383908	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:53383908G>A	ENST00000595635.1	-	8	1972	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.P491S|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAAAAGGAATTTTCTGA	0.393000													12	24					0	0	0.001368	0	0
GALNT14	79623	broad.mit.edu	37	2	31154962	31154962	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:31154962G>A	ENST00000349752.5	-	10	1669	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	GALNT14_ENST00000420311.2_Missense_Mutation_p.P309S|GALNT14_ENST00000356174.3_Missense_Mutation_p.P311S|GALNT14_ENST00000324589.5_Missense_Mutation_p.P349S|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.P324S	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	344						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTCCATCAGGGAAAACGTAG	0.607000													15	13					0	0	0.003163	0	0
MYBPC1	4604	broad.mit.edu	37	12	102053564	102053564	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:102053564A>T	ENST00000549145.1	+	18	1946	c.1846A>T	c.(1846-1848)Aac>Tac	p.N616Y	MYBPC1_ENST00000551300.1_Missense_Mutation_p.N504Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.N590Y|MYBPC1_ENST00000550270.1_Missense_Mutation_p.N603Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.N603Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.N603Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.N589Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.N603Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.N628Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.N603Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000536007.1_Missense_Mutation_p.N584Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.N628Y|MYBPC1_ENST00000541119.1_Missense_Mutation_p.N591Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.N577Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.N603Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	603	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAATCTGAAAAACGAAGCTGG	0.443000													14	10					0	0	0.004007	0	0
CHD8	57680	broad.mit.edu	37	14	21860739	21860739	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:21860739C>A	ENST00000399982.2	-	33	6762	c.6698G>T	c.(6697-6699)aGc>aTc	p.S2233I	CHD8_ENST00000557364.1_Missense_Mutation_p.S2233I|CHD8_ENST00000430710.3_Missense_Mutation_p.S1954I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2233					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCCGCTGTGCTGACTGCAGA	0.507000													27	73					1.88708e-17	2.2757e-17	0.008361	1	0
PLCB1	23236	broad.mit.edu	37	20	8639324	8639324	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:8639324G>A	ENST00000378641.3	+	9	1310	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E279K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E279K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	279					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGAAGTATGAACCCAACAA	0.433000													12	63					0	0	0.002450	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374039	37374039	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:37374039G>A	ENST00000233057.4	-	4	519	c.197C>T	c.(196-198)gCc>gTc	p.A66V	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.A66V|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.A66V	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	66	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTTGGCTGCGGCATTTTTTGC	0.333000													9	31					0	0	0.008291	0	0
ACSL6	23305	broad.mit.edu	37	5	131290047	131290047	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:131290047G>A	ENST00000379264.2	-	21	2157	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	ACSL6_ENST00000379244.1_Silent_p.I658I|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Silent_p.I669I|ACSL6_ENST00000296869.4_Silent_p.I683I|ACSL6_ENST00000543479.1_Silent_p.I658I|ACSL6_ENST00000357096.1_Silent_p.I583I|ACSL6_ENST00000544770.1_Silent_p.I567I|ACSL6_ENST00000379240.1_Silent_p.I658I|ACSL6_ENST00000431707.1_Silent_p.I638I|ACSL6_ENST00000379272.2_Silent_p.I673I|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379255.1_Silent_p.I583I	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	658					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCAGAATGGATGTGAATGG	0.363000													10	14					0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11833214	11833214	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:11833214C>T	ENST00000262442.3	+	63	11977	c.11909C>T	c.(11908-11910)aCc>aTc	p.T3970I	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.T282I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3970	AAA 6 (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)		TGGCTCAGCACCCTGGAGAAG	0.552000													5	10					0	0	0.000602	0	0
LAMB1	3912	broad.mit.edu	37	7	107600255	107600255	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:107600255G>A	ENST00000393561.1	-	17	2595	c.2411C>T	c.(2410-2412)tCg>tTg	p.S804L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S780L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S780L			P07942	LAMB1_HUMAN	laminin, beta 1	780	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAACTTAACGAACCCTGAGG	0.547000													9	10					0	0	0.006214	0	0
SETDB1	9869	broad.mit.edu	37	1	150933212	150933212	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:150933212A>G	ENST00000271640.5	+	16	2864	c.2674A>G	c.(2674-2676)Aac>Gac	p.N892D	SETDB1_ENST00000368969.4_Missense_Mutation_p.N892D|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	892	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGATGGCAACAGCGGTAC	0.498000													39	33					0	0	0.002222	0	0
MAP3K15	389840	broad.mit.edu	37	X	19416401	19416401	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:19416401C>T	ENST00000338883.4	-	15	2008	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R502Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R105Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	670	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTCAGATCTCGGCCAGCATA	0.502000													36	111					0	0	0.006230	0	0
FAM47C	442444	broad.mit.edu	37	X	37029212	37029212	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37029212A>T	ENST00000358047.3	+	1	2781	c.2729A>T	c.(2728-2730)aAa>aTa	p.K910I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	910										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GATGAGGTCAAATTCTTCTCA	0.458000													13	32					0	0	0.001855	0	0
AKAP1	8165	broad.mit.edu	37	17	55182852	55182852	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:55182852C>T	ENST00000337714.3	+	2	260	c.27C>T	c.(25-27)ttC>ttT	p.F9F	AKAP1_ENST00000314126.3_Silent_p.F9F|AKAP1_ENST00000571629.1_Silent_p.F9F|AKAP1_ENST00000572557.1_Silent_p.F9F|AKAP1_ENST00000539273.1_Silent_p.F9F	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	9					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTTCGCTCTTCCCCTTGGCAT	0.572000													12	25					0	0	0.001368	0	0
PRSS38	339501	broad.mit.edu	37	1	228003849	228003849	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:228003849G>A	ENST00000366757.3	+	2	231	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCCGAGAGGAAGTGGCCGT	0.667000													28	94					0	0	0.006320	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735873	55735873	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:55735873A>C	ENST00000312345.2	-	1	117	c.67T>G	c.(67-69)Tta>Gta	p.L23V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TACATAAGTAAAAATATACTA	0.323000													16	10					0	0	0.004007	0	0
RIPK4	54101	broad.mit.edu	37	21	43171321	43171321	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr21:43171321A>G	ENST00000352483.2	-	3	623	c.559T>C	c.(559-561)Tac>Cac	p.Y187H	RIPK4_ENST00000332512.3_Missense_Mutation_p.Y187H|RIPK4_ENST00000544709.1_Missense_Mutation_p.Y124H|RIPK4_ENST00000542057.1_Missense_Mutation_p.Y124H			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	187						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGGGAGGTAGGCGATTGTG	0.582000													25	27					0	0	0.003954	0	0
ZNF99	7652	broad.mit.edu	37	19	22939414	22939414	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:22939414T>A	ENST00000397104.3	-	7	2756	c.2757A>T	c.(2755-2757)gaA>gaT	p.E919D						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGCCACATTCTTCACATTTGT	0.368000													10	19					0	0	0.008291	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808870	80808870	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:80808870G>A	ENST00000466387.1	+	18	2657	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CTNNA2_ENST00000343114.3_Missense_Mutation_p.E324K|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E645K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E645K|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E679K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E645K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E645K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	645					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGAGCAGGAAGATTATGA	0.458000													20	29					0	0	0.003954	0	0
KIF5B	3799	broad.mit.edu	37	10	32327101	32327101	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:32327101G>A	ENST00000302418.4	-	6	945	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	163	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTTTACATAGGGAACTCGGTT	0.363000			T	"""RET, ALK"""	NSCLC								14	20					0	0	0.001855	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995915	19995915	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:19995915C>T	ENST00000391403.2	-	1	1963	c.1860G>A	c.(1858-1860)atG>atA	p.M620I		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	620						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGACCCATCCATTTTATCCA	0.398000													64	50					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61687834	61687834	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:61687834C>G	ENST00000577390.1	-	12	3032	c.2078G>C	c.(2077-2079)gGa>gCa	p.G693A	CDH8_ENST00000299345.6_Missense_Mutation_p.G693A|CDH8_ENST00000577730.1_Missense_Mutation_p.G693A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	693					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTAAAAATCCATTAATTCC	0.408000													34	12					0	0	0.002445	0	0
BCAS1	8537	broad.mit.edu	37	20	52645262	52645262	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:52645262T>A	ENST00000395961.3	-	4	558	c.392A>T	c.(391-393)aAc>aTc	p.N131I	BCAS1_ENST00000411563.1_Missense_Mutation_p.N34I|BCAS1_ENST00000371435.2_Missense_Mutation_p.N131I|BCAS1_ENST00000371440.3_Missense_Mutation_p.N131I	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	131						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGTCTTTGTTCGCTGGAGC	0.582000													7	45					0	0	0.003080	0	0
PLCL2	23228	broad.mit.edu	37	3	17053297	17053297	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:17053297A>G	ENST00000418129.2	+	2	2546	c.2081A>G	c.(2080-2082)aAc>aGc	p.N694S	PLCL2_ENST00000432376.1_Missense_Mutation_p.N694S|PLCL2_ENST00000396755.2_Missense_Mutation_p.N694S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	820	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCAAATCAACCTGCCTGAA	0.443000													14	49					0	0	0.003163	0	0
ZNF76	7629	broad.mit.edu	37	6	35259508	35259508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:35259508C>T	ENST00000373953.3	+	9	1191	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	ZNF76_ENST00000440666.2_Missense_Mutation_p.H283Y|ZNF76_ENST00000339411.5_Missense_Mutation_p.H309Y	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	309					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CGTGCGCATCCACACAGGTGG	0.622000													10	16					0	0	0.006214	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676008	73676008	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:73676008C>T	ENST00000339764.1	+	4	1171	c.420C>T	c.(418-420)gtC>gtT	p.V140V	RP11-167N4.2_ENST00000540886.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	140					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACCCCCAAGTCGAACGGGATC	0.527000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	10					0	0	0.002780	0	0
C17orf53	78995	broad.mit.edu	37	17	42226366	42226366	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:42226366C>T	ENST00000319977.4	+	3	1432	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P399S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P399S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	399										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCGCCGTTTCCCTGGCCCAGC	0.617000													9	34					0	0	0.004482	0	0
TEX101	83639	broad.mit.edu	37	19	43922105	43922105	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43922105C>T	ENST00000602198.1	+	7	963	c.521C>T	c.(520-522)cCc>cTc	p.P174L	TEX101_ENST00000598265.1_Missense_Mutation_p.P156L|TEX101_ENST00000253435.7_Missense_Mutation_p.P174L|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	156						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCTTCTCTTCCCTGTCCCAAT	0.463000													38	61					0	0	0.004878	0	0
KRT40	125115	broad.mit.edu	37	17	39140096	39140096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:39140096C>T	ENST00000377755.4	-	1	464	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	KRT40_ENST00000398486.2_Missense_Mutation_p.E144K			Q6A162	K1C40_HUMAN	keratin 40	144	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGAGATCTTCAATGGTGTTG	0.468000													43	74					0	0	0.003214	0	0
MYRF	745	broad.mit.edu	37	11	61541599	61541599	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:61541599C>T	ENST00000278836.5	+	8	1372	c.1276C>T	c.(1276-1278)Ctc>Ttc	p.L426F	MYRF_ENST00000327797.1_Missense_Mutation_p.L53F|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000265460.5_Missense_Mutation_p.L417F	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCTCAAGCCCCTCGACTGCTT	0.597000													6	3					0	0	0.001984	0	0
DYSF	8291	broad.mit.edu	37	2	71840485	71840485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:71840485C>T	ENST00000258104.3	+	40	4632	c.4355C>T	c.(4354-4356)cCt>cTt	p.P1452L	DYSF_ENST00000409651.1_Missense_Mutation_p.P1484L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1469L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1469L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.P1453L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1453L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1452L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1439L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1483L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1470L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1470L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1452						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACTCAGTCCTGGGGAAGAC	0.622000													10	11					0	0	0.001368	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123704	11123704	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:11123704A>G	ENST00000358026.2	+	16	2638	c.2354A>G	c.(2353-2355)aAg>aGg	p.K785R	SMARCA4_ENST00000413806.3_Missense_Mutation_p.K785R|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K785R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K785R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K785R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K785R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K785R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K785R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K785R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	785	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCTGGGGAAGACCATCCAG	0.577000			"""F, N, Mis"""		NSCLC								11	23					0	0	0.008291	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:197404165G>A	ENST00000367397.1	+	5	2173	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1058	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000													27	56					0	0	0.007291	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310695	61310695	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:61310695C>T	ENST00000341074.5	-	2	232	c.117G>A	c.(115-117)ggG>ggA	p.G39G	SERPINB4_ENST00000356424.6_Silent_p.G39G	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGGACCATCCCTAATGCTG	0.423000													43	24					0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91155911	91155911	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:91155911C>T	ENST00000357056.2	-	7	1044	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TTC7B_ENST00000328459.6_Missense_Mutation_p.R308Q			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	308							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACGGGCTCTCCGAGTGAGAGT	0.502000													9	11					0	0	0.006214	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654753	99654753	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99654753G>A	ENST00000292450.4	+	2	288	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E42K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E42K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	42					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCCTAGCCTGGAGATGTTCCG	0.602000													31	47					0	0	0.002096	0	0
TENM3	55714	broad.mit.edu	37	4	183714756	183714756	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:183714756C>T	ENST00000511685.1	+	26	7054	c.6931C>T	c.(6931-6933)Ctt>Ttt	p.L2311F	TENM3_ENST00000406950.2_Missense_Mutation_p.L2311F					teneurin transmembrane protein 3																		TAGCAATGGGCTTATGCTGAA	0.418000													5	18					0	0	0.001168	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115900	75115900	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:75115900G>A	ENST00000309664.5	+	12	1339	c.1199_splice	c.e12-1	p.R400_splice	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.R388_splice	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	400						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCGGTTAGGGATGCAGCTG	0.552000													21	47					0	0	0.002299	0	0
ITIH3	3699	broad.mit.edu	37	3	52831138	52831138	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:52831138T>G	ENST00000449956.2	+	5	410	c.404T>G	c.(403-405)tTg>tGg	p.L135W	ITIH3_ENST00000416872.2_Missense_Mutation_p.L135W	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	135	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGAGGAAGTTGGAGAAGTTC	0.612000													5	6					0	0	0.001168	0	0
PSMB10	5699	broad.mit.edu	37	16	67969926	67969926	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:67969926G>T	ENST00000358514.4	-	4	660	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCGGCCCGTAGATAACGCGTG	0.662000													22	22					8.10497e-08	9.70355e-08	0.001523	1	0
CHRD	8646	broad.mit.edu	37	3	184105719	184105719	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:184105719G>A	ENST00000204604.1	+	20	2698	c.2451_splice	c.e20-1	p.G818_splice	CHRD_ENST00000348986.3_Splice_Site_p.G778_splice|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Splice_Site_p.G818_splice|CHRD_ENST00000545352.1_Splice_Site_p.G360_splice	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	818	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCTACAGGGGGGCACTGG	0.607000													5	22					0	0	0.001168	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063266	41063266	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41063266C>T	ENST00000352632.3	+	26	5713	c.5627C>T	c.(5626-5628)aCc>aTc	p.T1876I	SPTBN4_ENST00000598249.1_Missense_Mutation_p.T1876I|SPTBN4_ENST00000595535.1_Missense_Mutation_p.T1876I|SPTBN4_ENST00000392025.1_Missense_Mutation_p.T619I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.T1876I|SPTBN4_ENST00000392023.1_Missense_Mutation_p.T552I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1876					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCAGCGGACCCTGAGAGCC	0.682000													19	38					0	0	0.002780	0	0
PSG5	5673	broad.mit.edu	37	19	43680253	43680253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:43680253C>T	ENST00000404580.1	-	3	566	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG5_ENST00000366175.3_Missense_Mutation_p.E160K|PSG5_ENST00000342951.6_Missense_Mutation_p.E160K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.E253K|PSG5_ENST00000407356.1_Missense_Mutation_p.E160K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTTATTCTCCCTGGGTTTT	0.493000													88	141					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196636429	196636429	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:196636429C>T	ENST00000312428.6	-	61	11488	c.11388G>A	c.(11386-11388)ctG>ctA	p.L3796L	DNAH7_ENST00000409063.1_Silent_p.L279L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3796					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3796L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGGTCTTCAGTAACTTAT	0.383000													34	74					0	0	0.006999	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706921	45706921	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:45706921G>A	ENST00000305560.6	+	4	1686	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V	SPATA5L1_ENST00000559860.1_Silent_p.V529V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	529						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TCGTTTCAGTGAGTGGAGCTG	0.443000													18	35					0	0	0.002299	0	0
SPZ1	84654	broad.mit.edu	37	5	79616920	79616920	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:79616920G>A	ENST00000296739.4	+	1	1131	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GCCAAATAATGAAGTGTCGGC	0.418000													19	29					0	0	0.008871	0	0
GNB3	2784	broad.mit.edu	37	12	6952642	6952642	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:6952642C>T	ENST00000229264.3	+	7	788	c.383C>T	c.(382-384)tCc>tTc	p.S128F	GNB3_ENST00000435982.2_Missense_Mutation_p.S128F	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	128					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						AACCTCAAATCCCGTGAGGGC	0.592000													13	31					0	0	0.002450	0	0
TDP1	55775	broad.mit.edu	37	14	90429758	90429758	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:90429758G>C	ENST00000335725.4	+	3	550	c.300G>C	c.(298-300)atG>atC	p.M100I	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.M100I|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.M100I|TDP1_ENST00000393454.2_Missense_Mutation_p.M100I	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	100					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACCAGAAATGCCGCAGAAGC	0.512000								Repair of DNA-protein crosslinks					8	58					0	0	0.003080	0	0
SIAH3	283514	broad.mit.edu	37	13	46357646	46357646	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:46357646C>T	ENST00000400405.2	-	2	788	c.682G>A	c.(682-684)Gtg>Atg	p.V228M		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	228					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TCCGTAATCACCGAGTCCACG	0.612000													7	23					0	0	0.003080	0	0
SCNN1G	6340	broad.mit.edu	37	16	23205492	23205492	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:23205492G>A	ENST00000300061.2	+	5	953	c.809_splice	c.e5-1	p.R270_splice		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	270					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCATAGGAATTTCACGC	0.493000													23	49					0	0	0.002299	0	0
FLT4	2324	broad.mit.edu	37	5	180050979	180050979	+	Missense_Mutation	SNP	C	C	T	rs139272488		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:180050979C>T	ENST00000261937.6	-	11	1582	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	FLT4_ENST00000393347.3_Missense_Mutation_p.E502K|FLT4_ENST00000502649.1_Missense_Mutation_p.E502K|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	502	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAGGCTCTCGATGGGGTTC	0.632000													23	48					0	0	0.003330	0	0
C1orf87	127795	broad.mit.edu	37	1	60456423	60456423	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:60456423G>A	ENST00000371201.3	-	12	1670	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	C1orf87_ENST00000450089.2_Silent_p.I292I|C1orf87_ENST00000395552.1_Silent_p.I155I|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	521							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCCTGGTCGATTTTCTGAG	0.483000													63	116					0	0	0.003610	0	0
OR1M1	125963	broad.mit.edu	37	19	9204705	9204705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9204705C>T	ENST00000429566.3	+	1	851	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TATCTGTGTCCCTCCTCGGTC	0.557000													38	56					0	0	0.002222	0	0
WRNIP1	56897	broad.mit.edu	37	6	2785495	2785495	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:2785495C>G	ENST00000380769.4	+	7	1548	c.1317C>G	c.(1315-1317)ttC>ttG	p.F439L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.F275L|WRNIP1_ENST00000380773.4_Missense_Mutation_p.F659L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.F634L			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	659					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGTAGATTTCTTCAAGCAGA	0.502000													27	43					0	0	0.004656	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239696	65239696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:65239696C>T	ENST00000380230.3	+	13	1263	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.R289C|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.R380C|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.R412C	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	412					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACAGCAGCTCCGTTCTGTGCT	0.582000													6	19					0	0	0.001984	0	0
OR9G1	390174	broad.mit.edu	37	11	56468777	56468777	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:56468777C>T	ENST00000312153.1	+	1	914	c.914C>T	c.(913-915)cCa>cTa	p.P305L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAACTTCTCCCATAAATCAAG	0.383000													7	26					0	0	0.001984	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736894	140736894	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:140736894G>A	ENST00000571252.1	+	1	2127	c.2127G>A	c.(2125-2127)acG>acA	p.T709T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTGTCACGGTGCTGCTAG	0.617000													9	14					0	0	0.004482	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535902	166535902	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:166535902C>T	ENST00000314499.7	+	7	1773	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	CSRNP3_ENST00000342316.4_Missense_Mutation_p.S466L|CSRNP3_ENST00000409420.1_Missense_Mutation_p.S498L	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	466					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GGTACCCTTTCGCTGGTGCCT	0.488000													10	21					0	0	0.008291	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290088	55290088	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:55290088C>T	ENST00000336077.6	+	5	729	c.689C>T	c.(688-690)tCa>tTa	p.S230L	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S230L|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	230					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTTGGCCTTCACCCACTGAA	0.502000													52	8					0	0	0.003610	0	0
NFU1	27247	broad.mit.edu	37	2	69650786	69650786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:69650786C>T	ENST00000410022.2	-	3	435	c.230G>A	c.(229-231)gGa>gAa	p.G77E	NFU1_ENST00000303698.3_Missense_Mutation_p.G53E|NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Intron	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	77					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AACTGGTTTTCCTGGTATAAA	0.368000													6	12					0	0	0.001168	0	0
CCDC69	26112	broad.mit.edu	37	5	150581166	150581166	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:150581166C>T	ENST00000355417.2	-	3	382	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	70										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTCTTTTCCTCCTCATGT	0.502000													19	32					0	0	0.008871	0	0
CD96	10225	broad.mit.edu	37	3	111264049	111264049	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111264049C>T	ENST00000352690.4	+	2	458	c.218C>T	c.(217-219)cCc>cTc	p.P73L	CD96_ENST00000283285.5_Missense_Mutation_p.P73L|CD96_ENST00000438817.2_Missense_Mutation_p.P73L	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	73	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GTCTATCATCCCCAATACGGC	0.478000									Opitz Trigonocephaly syndrome				17	51					0	0	0.004007	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:9434098G>A	ENST00000378501.2	+	29	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_ENST00000414679.2_Missense_Mutation_p.M995I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M983I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M983I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M995I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M983I|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	983					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAGGCAATGAAGAAGAAGG	0.388000													19	9					0	0	0.008871	0	0
KIF14	9928	broad.mit.edu	37	1	200544813	200544813	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:200544813C>T	ENST00000367350.4	-	22	3910	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1158	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTGTTACTACCATTACTCTAA	0.328000													10	31					0	0	0.008291	0	0
RPL5	6125	broad.mit.edu	37	1	93303031	93303031	+	Silent	SNP	T	T	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:93303031T>G	ENST00000370321.3	+	6	636	c.546T>G	c.(544-546)ggT>ggG	p.G182G		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	182					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GATTCCCTGGTTATGATTCTG	0.348000													6	23					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9049710	9049710	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:9049710G>A	ENST00000397910.4	-	5	32124	c.31921C>T	c.(31921-31923)Cca>Tca	p.P10641S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10643	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						ATATTTGTTGGAATGGCTGAG	0.478000													13	29					0	0	0.002450	0	0
PEX16	9409	broad.mit.edu	37	11	45935479	45935479	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:45935479G>A	ENST00000532681.1	-	9	1356	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	PEX16_ENST00000378750.5_Silent_p.L260L|PEX16_ENST00000241041.3_Silent_p.L260L			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	260					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCACTCAGGAGGCTCAGG	0.667000													14	5					0	0	0.007413	0	0
TTLL2	83887	broad.mit.edu	37	6	167754880	167754880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:167754880C>T	ENST00000239587.5	+	3	1580	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	498					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGGATTTTCATCTGTCAAC	0.557000													14	8					0	0	0.002450	0	0
TCN2	6948	broad.mit.edu	37	22	31003345	31003345	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:31003345C>T	ENST00000215838.3	+	1	521	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TCN2_ENST00000407817.3_Silent_p.F9F|TCN2_ENST00000405742.3_Silent_p.F9F			P20062	TCO2_HUMAN	transcobalamin II	9					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)	CCTTCCTCTTCCTTCTGGGGG	0.617000													26	62					0	0	0.006320	0	0
CDYL	9425	broad.mit.edu	37	6	4954232	4954232	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:4954232C>T	ENST00000328908.5	+	9	1870	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.S394L|CDYL_ENST00000397588.3_Missense_Mutation_p.S526L|CDYL_ENST00000343762.5_Missense_Mutation_p.S394L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	580					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.S580L(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ATCTGGGGCTCGGCCCAGGGG	0.572000													13	16					0	0	0.002450	0	0
SCLT1	132320	broad.mit.edu	37	4	129873956	129873956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr4:129873956G>A	ENST00000281142.5	-	14	1689	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTTAATCGAGAAATTTGT	0.259000													15	43					0	0	0.002450	0	0
NAA25	80018	broad.mit.edu	37	12	112467426	112467426	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:112467426C>T	ENST00000261745.4	-	24	3076	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	943						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTGCACCTTCCCTTGCACAGT	0.388000													5	16					0	0	0.000602	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460296	32460296	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:32460296G>A	ENST00000306901.3	+	10	1243	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	CHRNA7_ENST00000454250.3_Silent_p.G411G|CHRNA7_ENST00000455693.2_Silent_p.G201G	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	382					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CCAGCAACGGGAACCTGCTGT	0.721000													10	35					0	0	0.004007	0	0
USP28	57646	broad.mit.edu	37	11	113698048	113698048	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:113698048A>G	ENST00000003302.4	-	11	1162	c.1094T>C	c.(1093-1095)tTt>tCt	p.F365S	USP28_ENST00000260188.5_Missense_Mutation_p.F365S|USP28_ENST00000537706.1_Missense_Mutation_p.F365S|USP28_ENST00000545540.1_Missense_Mutation_p.F240S|USP28_ENST00000544967.1_Missense_Mutation_p.F73S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	365					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGAGAGTTCAAAGGTCAACAC	0.358000													12	8					0	0	0.001855	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													5	225					0	0	0.000602	0	0
PTPRF	5792	broad.mit.edu	37	1	44069654	44069654	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:44069654G>A	ENST00000359947.4	+	16	3171	c.2831G>A	c.(2830-2832)aGg>aAg	p.R944K	PTPRF_ENST00000438120.1_Missense_Mutation_p.R935K|PTPRF_ENST00000372413.3_Missense_Mutation_p.R935K|PTPRF_ENST00000372414.3_Missense_Mutation_p.R944K|PTPRF_ENST00000422171.2_Missense_Mutation_p.R292K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	944	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGCGGAGAGGAACGGGCGC	0.607000													10	18					0	0	0.008291	0	0
ZNF630	57232	broad.mit.edu	37	X	47918214	47918214	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:47918214C>T	ENST00000276054.4	-	5	2179	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	ZNF630_ENST00000409324.3_Silent_p.G539G|ZNF630_ENST00000442455.3_Silent_p.G525G|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGGGTTTCTCCCCTGTGTGAA	0.448000													3	8					0	0	0.004672	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261232	151261232	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:151261232C>T	ENST00000287878.4	-	14	2020	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PRKAG2_ENST00000418337.2_Missense_Mutation_p.E265K|PRKAG2_ENST00000492843.1_Missense_Mutation_p.E382K|PRKAG2_ENST00000392801.2_Missense_Mutation_p.E462K|PRKAG2_ENST00000433631.2_Missense_Mutation_p.E381K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	506	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ACAACACCTTCAAAATACTGT	0.463000													24	32					0	0	0.003330	0	0
OOSP2	219990	broad.mit.edu	37	11	59812158	59812158	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:59812158A>C	ENST00000278855.2	+	3	443	c.258A>C	c.(256-258)gaA>gaC	p.E86D	PLAC1L_ENST00000532905.1_Missense_Mutation_p.E55D	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		86						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TTTCTGAGGAAACTCTCCTTT	0.408000													7	3					0	0	0.003080	0	0
ROBO4	54538	broad.mit.edu	37	11	124757634	124757634	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:124757634C>T	ENST00000306534.3	-	13	2536	c.2051G>A	c.(2050-2052)aGc>aAc	p.S684N	ROBO4_ENST00000533054.1_Missense_Mutation_p.S539N|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	684					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTCACCTGGGCTTTGGGAAAG	0.607000													17	8					0	0	0.006122	0	0
ZYX	7791	broad.mit.edu	37	7	143080385	143080385	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:143080385C>T	ENST00000322764.5	+	5	1338	c.993C>T	c.(991-993)ccC>ccT	p.P331P	ZYX_ENST00000392910.2_Silent_p.P174P|ZYX_ENST00000449423.2_Silent_p.P244P	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	331					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGCAGCACCCCGTGCCCCCAC	0.637000													8	13					0	0	0.004482	0	0
OR5B17	219965	broad.mit.edu	37	11	58126414	58126414	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:58126414C>T	ENST00000357377.3	-	1	128	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTAATATGATCATCCCCAGGT	0.473000													19	12					0	0	0.001523	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958713	111958713	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:111958713C>T	ENST00000305815.5	-	12	1672	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A426T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	474					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AGTGTAATTGCTTTCTCAATC	0.328000													18	10					0	0	0.008871	0	0
CLDN4	1364	broad.mit.edu	37	7	73245539	73245539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:73245539C>T	ENST00000435050.1	+	2	2688	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CLDN4_ENST00000431918.1_Missense_Mutation_p.S3F|CLDN4_ENST00000340958.2_Missense_Mutation_p.S3F			O14493	CLD4_HUMAN	claudin 4	3					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ACAATGGCCTCCATGGGGCTA	0.657000													20	40					0	0	0.002780	0	0
ERBB4	2066	broad.mit.edu	37	2	212587137	212587137	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:212587137G>A	ENST00000342788.4	-	7	1174	c.864C>T	c.(862-864)ttC>ttT	p.F288F	ERBB4_ENST00000436443.1_Silent_p.F288F|ERBB4_ENST00000402597.1_Silent_p.F288F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	288	Cys-rich.				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)		TCTTGACACAGAATGCTCCAT	0.338000										TSP Lung(8;0.080)			9	21					0	0	0.008291	0	0
CAP1	10487	broad.mit.edu	37	1	40525125	40525125	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:40525125C>T	ENST00000372797.3	+	2	668	c.107C>T	c.(106-108)tCa>tTa	p.S36L	CAP1_ENST00000372792.2_Missense_Mutation_p.S36L|CAP1_ENST00000372798.1_Missense_Mutation_p.S36L|CAP1_ENST00000372802.1_Missense_Mutation_p.S36L|CAP1_ENST00000340450.3_Missense_Mutation_p.S36L|CAP1_ENST00000372805.3_Missense_Mutation_p.S36L	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	36					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAGTCCTTCAAAAGGTAAG	0.483000													26	34					0	0	0.003954	0	0
COL4A1	1282	broad.mit.edu	37	13	110826973	110826973	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr13:110826973G>A	ENST00000375820.4	-	38	3443	c.3322C>T	c.(3322-3324)Cca>Tca	p.P1108S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1108	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACCTACCTGGATAGCCAACA	0.502000													12	30					0	0	0.001368	0	0
SBSN	374897	broad.mit.edu	37	19	36017803	36017803	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:36017803C>T	ENST00000452271.2	-	1	1409	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	118						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGTGAACTCCCTGGCCAAAC	0.602000													3	7					0	0	0.004672	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95443821	95443821	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:95443821G>A	ENST00000359204.4	-	10	857	c.660C>T	c.(658-660)ttC>ttT	p.F220F	FRA10AC1_ENST00000394100.2_Silent_p.F220F|FRA10AC1_ENST00000371430.2_Silent_p.F220F|FRA10AC1_ENST00000536233.1_Silent_p.F220F	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	220	Lys-rich.					nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACCTGTGATGGAAATTTAATT	0.318000													55	50					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168108439	168108439	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:168108439G>A	ENST00000409195.1	+	9	10626	c.10537G>A	c.(10537-10539)Gaa>Aaa	p.E3513K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3291K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3513K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3338					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCCAAGAGGAATCTGCATT	0.388000													18	32					0	0	0.002299	0	0
SYTL5	94122	broad.mit.edu	37	X	37913546	37913546	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:37913546G>A	ENST00000357972.5	+	3	746	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	SYTL5_ENST00000297875.2_Missense_Mutation_p.C67Y|SYTL5_ENST00000456733.2_Missense_Mutation_p.C67Y|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	67	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTGTTCACTGTCACAGAAAC	0.498000													7	31					0	0	0.001984	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701981	96701981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:96701981G>A	ENST00000260682.6	+	3	376	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	122					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAATGGAAGGAGATCCGGCG	0.517000													16	36					0	0	0.004990	0	0
NAA25	80018	broad.mit.edu	37	12	112467425	112467425	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:112467425C>T	ENST00000261745.4	-	24	3077	c.2829G>A	c.(2827-2829)ggG>ggA	p.G943G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	943						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGCACCTTCCCTTGCACAG	0.388000													5	17					0	0	0.000602	0	0
ZNF90	7643	broad.mit.edu	37	19	20228855	20228855	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:20228855G>A	ENST00000418063.2	+	4	604	c.492G>A	c.(490-492)aaG>aaA	p.K164K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	164						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I165fs*26(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ACAGACATAAGATAAGAGATA	0.343000													6	5					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82580330	82580330	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:82580330G>A	ENST00000423517.2	-	6	9911	c.9574C>T	c.(9574-9576)Cct>Tct	p.P3192S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3192S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3123	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCACTTCAGGAAACACTTCG	0.443000													7	12					0	0	0.003080	0	0
KCNS2	3788	broad.mit.edu	37	8	99440889	99440889	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:99440889G>A	ENST00000287042.4	+	2	1032	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E228K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	228						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E228fs*9(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCCTAGGTTCGAAATCGTGGA	0.547000													26	29					0	0	0.005443	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187518	58187518	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:58187518C>T	ENST00000318203.5	+	3	702	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	2					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		CTAAGAATGGCTTTAGATCTA	0.383000													4	28					0	0	0.000248	0	0
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:6735965C>T	ENST00000264080.7	-	3	271	c.245G>A	c.(244-246)gGg>gAg	p.G82E	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	82						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGACTGAACCCCACCTGGTG	0.562000											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.000248	0	0
SHB	6461	broad.mit.edu	37	9	37955983	37955983	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:37955983G>A	ENST00000377707.3	-	4	1688	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	375	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCAGGGGCACGAAGCTGGCGC	0.607000													11	1					0	0	0.008291	0	0
DIDO1	11083	broad.mit.edu	37	20	61511017	61511017	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr20:61511017C>T	ENST00000266070.4	-	16	6616	c.6291G>A	c.(6289-6291)gaG>gaA	p.E2097E	DIDO1_ENST00000395343.1_Silent_p.E2097E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2097					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGCGGCTTCTCTTTGGGCC	0.662000													110	69					0	0	0.003610	0	0
RHOF	54509	broad.mit.edu	37	12	122219098	122219098	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:122219098C>T	ENST00000267205.2	-	3	855	c.226_splice	c.e3-1	p.G76_splice	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	76					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTCTTCTTGCCCTGAAAGCAC	0.617000													16	8					0	0	0.006122	0	0
C1orf173	127254	broad.mit.edu	37	1	75038616	75038616	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:75038616C>T	ENST00000326665.5	-	14	2996	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	926	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCCGATGTCGCTGCCTCTC	0.552000													36	74					0	0	0.004878	0	0
OR52R1	119695	broad.mit.edu	37	11	4825176	4825176	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:4825176G>A	ENST00000380382.1	-	1	671	c.672C>T	c.(670-672)atC>atT	p.I224I	OR52R1_ENST00000356069.2_Silent_p.I145I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGTTTGATCACGACCG	0.587000													22	16					0	0	0.002299	0	0
TRIO	7204	broad.mit.edu	37	5	14462919	14462919	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:14462919G>A	ENST00000344204.4	+	36	5576	c.5552G>A	c.(5551-5553)gGg>gAg	p.G1851E	TRIO_ENST00000537187.1_Missense_Mutation_p.G1851E|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTCCTCGGGGATGCAGAGC	0.612000													45	46					0	0	0.003610	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138174	126138174	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:126138174G>A	ENST00000299308.3	+	9	2163	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D231N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	719						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACATTTACGATCCTAAGGA	0.403000													20	47					0	0	0.008871	0	0
C2orf48	348738	broad.mit.edu	37	2	10350492	10350492	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:10350492C>T	ENST00000381786.3	+	4	538	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	83										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		GCCCAGCCCTCATTGTGAAGG	0.512000													13	24					0	0	0.001855	0	0
SUSD1	64420	broad.mit.edu	37	9	114886656	114886656	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:114886656G>A	ENST00000374270.3	-	6	939	c.767C>T	c.(766-768)tCc>tTc	p.S256F	SUSD1_ENST00000374264.2_Missense_Mutation_p.S256F|SUSD1_ENST00000374263.3_Missense_Mutation_p.S256F|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	256	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGCCTGGAGCTGTGATT	0.532000													49	17					0	0	0.003610	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446428	169446428	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:169446428G>A	ENST00000236137.5	-	2	1008	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	258					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATATTTAGAGGGATTTTTGAC	0.483000													16	98					0	0	0.008871	0	0
PLD2	5338	broad.mit.edu	37	17	4714187	4714187	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:4714187C>T	ENST00000263088.6	+	10	1082	c.951C>T	c.(949-951)ttC>ttT	p.F317F	PLD2_ENST00000572940.1_Silent_p.F317F	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	317					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCAGAGACTTCCTACAGCTGC	0.622000													21	34					0	0	0.008871	0	0
FHL3	2275	broad.mit.edu	37	1	38463360	38463360	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:38463360G>A	ENST00000373016.3	-	5	852	c.684C>T	c.(682-684)atC>atT	p.I228I	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	228	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCCACCTACGATGGGGCGCT	0.582000													21	31					0	0	0.002299	0	0
TRAV18	28665	broad.mit.edu	37	14	22471482	22471482	+	RNA	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:22471482C>T	ENST00000390446.3	+	0	138																											GACTTGTGATCTTGTTGATAT	0.403000													19	19					0	0	0.002299	0	0
EPX	8288	broad.mit.edu	37	17	56270888	56270888	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:56270888C>T	ENST00000225371.5	+	3	437	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	109					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCAGCGGTCCGGACCCTTCA	0.577000													10	18					0	0	0.008291	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654752	99654752	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr7:99654752G>A	ENST00000292450.4	+	2	287	c.123G>A	c.(121-123)ctG>ctA	p.L41L	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Silent_p.L41L|ZSCAN21_ENST00000456748.2_Silent_p.L41L	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	41					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCCTAGCCTGGAGATGTTCC	0.597000													32	47					0	0	0.002445	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228802	57228802	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:57228802C>T	ENST00000396721.2	-	2	235	c.105G>A	c.(103-105)cgG>cgA	p.R35R	SDR16C5_ENST00000522671.1_Silent_p.R35R|SDR16C5_ENST00000303749.3_Silent_p.R35R			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	35					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACGTTCTTCCGTGGCTTTG	0.458000													6	18					0	0	0.001168	0	0
BCL10	8915	broad.mit.edu	37	1	85733512	85733512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:85733512G>A	ENST00000370580.1	-	3	1237	c.500C>T	c.(499-501)tCt>tTt	p.S167F		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	167					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AGAATTAGTAGAAAAAAAGGG	0.443000			T	IGH@	MALT								9	23					0	0	0.008291	0	0
DTL	51514	broad.mit.edu	37	1	212273663	212273663	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:212273663C>T	ENST00000366991.4	+	14	1645	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S402F	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	444					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCAATTCTTCCCCGTCATCC	0.517000													29	79					0	0	0.002836	0	0
KCNA10	3744	broad.mit.edu	37	1	111060402	111060402	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:111060402G>A	ENST00000369771.2	-	1	1395	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	336						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGATGGCCAGGGACATGTTCT	0.542000													32	24					0	0	0.002836	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815015	106815015	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:106815015G>A	ENST00000407775.2	+	8	2955	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	ZFPM2_ENST00000378472.4_Missense_Mutation_p.R633Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R770Q|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R770Q	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAAGCGAACGAAACAGCCCT	0.458000													8	9					0	0	0.003080	0	0
LRRC40	55631	broad.mit.edu	37	1	70614327	70614327	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:70614327G>A	ENST00000370952.3	-	14	1625	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	516										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTGAAGATACGATATAGAACT	0.338000													11	21					0	0	0.000978	0	0
SPRY3	10251	broad.mit.edu	37	X	155004072	155004072	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:155004072G>A	ENST00000302805.2	+	2	970	c.539G>A	c.(538-540)aGc>aAc	p.S180N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	180	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTGCTGAGAGCCTCCTCGAT	0.582000													20	78					0	0	0.001523	0	0
BCKDHA	593	broad.mit.edu	37	19	41928208	41928208	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:41928208C>T	ENST00000269980.2	+	6	1154	c.786C>T	c.(784-786)ttC>ttT	p.F262F	BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Silent_p.F240F|BCKDHA_ENST00000595085.1_Silent_p.F296F|CTC-435M10.3_ENST00000540732.1_Silent_p.F296F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	262					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCATCATCTTCTTCTGCCGGA	0.622000													13	44					0	0	0.004007	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261430	21261430	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:21261430C>T	ENST00000311620.5	+	2	616	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	181								p.S181S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTACCTTCTCCAGATCATCCC	0.468000													18	34					0	0	0.008871	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749933	8749933	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:8749933G>A	ENST00000276282.6	-	1	1222	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	212										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCGGTTGCTGGACACGTCCA	0.692000													6	5					0	0	0.001168	0	0
STK36	27148	broad.mit.edu	37	2	219563402	219563402	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr2:219563402C>T	ENST00000295709.3	+	26	3414	c.3135C>T	c.(3133-3135)ccC>ccT	p.P1045P	STK36_ENST00000440309.1_Silent_p.P1045P|STK36_ENST00000392105.3_Silent_p.P1024P|STK36_ENST00000392106.2_Silent_p.P1024P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1045					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCATGGATCCCACCTCTCTCA	0.547000													63	98					0	0	0.003610	0	0
NDOR1	27158	broad.mit.edu	37	9	140109353	140109353	+	Silent	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr9:140109353C>T	ENST00000371521.4	+	8	1031	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NDOR1_ENST00000427047.2_Silent_p.L282L|NDOR1_ENST00000344894.5_Silent_p.L316L|NDOR1_ENST00000458322.2_Silent_p.L316L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	316	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637000													34	3					0	0	0.002096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230237	25230237	+	RNA	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr15:25230237G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CATTGGGAAAGACCTGGGCTG	0.423000													17	47					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478869	110478869	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr8:110478869G>A	ENST00000378402.5	+	50	8580	c.8476G>A	c.(8476-8478)Gaa>Aaa	p.E2826K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2826					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGTACTCAGGAAGCTGAGTG	0.453000										HNSCC(38;0.096)			3	3					0	0	0.004672	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090785	39090785	+	Silent	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr19:39090785G>A	ENST00000591517.1	-	21	1568	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	MAP4K1_ENST00000423454.2_Silent_p.L176L|MAP4K1_ENST00000396857.2_Silent_p.L514L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Silent_p.L510L|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	514	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCAGGAGCAGGTGCTGGTCT	0.602000													6	24					0	0	0.003080	0	0
TMX1	81542	broad.mit.edu	37	14	51716235	51716235	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:51716235C>T	ENST00000457354.2	+	6	664	c.539C>T	c.(538-540)tCa>tTa	p.S180L		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	180					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						GTGTGGGGATCATATACTGTT	0.313000													33	106					0	0	0.004289	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391708	22391708	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:22391708G>A	ENST00000263160.3	+	8	1452	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	339					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATATTTTGAGGAAGTCTTTGG	0.303000													11	8					0	0	0.001855	0	0
DCC	1630	broad.mit.edu	37	18	50918084	50918084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr18:50918084G>A	ENST00000442544.2	+	17	3131	c.2515G>A	c.(2515-2517)Gat>Aat	p.D839N	DCC_ENST00000581580.1_Splice_Site|DCC_ENST00000412726.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	839					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCGGTCCCAGATCTCTCCAC	0.483000													16	111					0	0	0.001523	0	0
GABRA3	2556	broad.mit.edu	37	X	151376557	151376557	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:151376557C>T	ENST00000370314.4	-	7	932	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	GABRA3_ENST00000535043.1_Missense_Mutation_p.E232K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E232K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	232					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTGCCACTTCCACGGATTTG	0.423000													20	25					0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164735377	164735377	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr3:164735377G>A	ENST00000264382.3	-	31	3780	c.3718C>T	c.(3718-3720)Cgg>Tgg	p.R1240W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1240	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1240R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATAATTCCCGAACCTCTGAA	0.343000										HNSCC(35;0.089)			5	21					0	0	0.000602	0	0
TOP3A	7156	broad.mit.edu	37	17	18205274	18205274	+	Silent	SNP	G	G	A	rs34430764	byFrequency	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:18205274G>A	ENST00000321105.5	-	8	1054	c.840C>T	c.(838-840)atC>atT	p.I280I	TOP3A_ENST00000542570.1_Silent_p.I185I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	280					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.I280I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGAATTCTACGATACCATCTT	0.403000													6	15					0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134000	233134000	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr1:233134000T>C	ENST00000258229.8	-	32	6022	c.5788A>G	c.(5788-5790)Aca>Gca	p.T1930A	PCNXL2_ENST00000344698.2_Missense_Mutation_p.T582A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1930						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CACCCACCTGTTCTCTGTGTC	0.552000													6	10					0	0	0.001984	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239950	5239950	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:5239950C>T	ENST00000274181.7	+	16	2573	c.2435C>T	c.(2434-2436)tCg>tTg	p.S812L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	812	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TACAAATTTTCGGGCACTACT	0.517000													35	44					0	0	0.003271	0	0
PDZD2	23037	broad.mit.edu	37	5	32087839	32087851	+	Frame_Shift_Del	DEL	AGCTTCATCAAGG	AGCTTCATCAAGG	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr5:32087839_32087851delAGCTTCATCAAGG	ENST00000438447.1	+	20	4673_4685	c.4285_4297delAGCTTCATCAAGG	c.(4285-4299)agfs	p.SFIKE1429fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SFIKE1429fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1429					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGACATTGACAGCTTCATCAAGGAGCTGGATGC	0.620													10	26	---	---	---	---					
HMGCLL1	54511	broad.mit.edu	37	6	55304296	55304296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:55304296delC	ENST00000398661.2	-	9	1078	c.947delG	c.(946-948)gtfs	p.G316fs	HMGCLL1_ENST00000508459.1_Frame_Shift_Del_p.G120fs|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000308161.4_Frame_Shift_Del_p.G254fs|HMGCLL1_ENST00000370850.2_Frame_Shift_Del_p.G183fs|HMGCLL1_ENST00000274901.4_Frame_Shift_Del_p.G286fs	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	316							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCCAGAAGCACCTTTTGCATA	0.408													14	49	---	---	---	---					
PHIP	55023	broad.mit.edu	37	6	79708059	79708060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr6:79708059_79708060insA	ENST00000275034.4	-	18	2095_2096	c.1928_1929insT	c.(1927-1929)cgafs	p.R643fs		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	643					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATGCTGTCCAGTGGGCTGAT	0.401													17	31	---	---	---	---					
GPR123	84435	broad.mit.edu	37	10	134886614	134886614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr10:134886614delG	ENST00000607359.1	+	3	648	c.648delG	c.(646-648)ctfs	p.L216fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCTGGAGCTGGGTGCCCAGG	0.711													10	2	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535677	119535678	+	In_Frame_Ins	INS	-	-	CCT	rs137909701	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr11:119535677_119535678insCCT	ENST00000264025.3	-	6	1863_1864	c.1333_1334insAGG	c.(1333-1335)cgg>AGGcgg	p.445_445R>RR	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	445	Poly-Gly.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTCCACCGCcctcctcctcc	0.658													3	3	---	---	---	---					
GPR133	283383	broad.mit.edu	37	12	131605434	131605434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr12:131605434delA	ENST00000261654.5	+	20	2710	c.2151delA	c.(2149-2151)gtfs	p.V717fs	GPR133_ENST00000535015.1_Frame_Shift_Del_p.V749fs|GPR133_ENST00000376682.4_Frame_Shift_Del_p.V403fs|GPR133_ENST00000543617.1_Frame_Shift_Del_p.V236fs	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	717					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGCCTTTGTAGCCCCTGCCC	0.627													16	69	---	---	---	---					
RDH11	51109	broad.mit.edu	37	14	68159693	68159695	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr14:68159693_68159695delTAT	ENST00000381346.4	-	2	259_261	c.149_151delATA	c.(148-153)aca>a	p.NT50del	RDH11_ENST00000553384.1_In_Frame_Del_p.NT50del|RDH11_ENST00000428130.2_In_Frame_Del_p.NT50del	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	50					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCGATACCTGTATTAGCTCCTGT	0.488													9	35	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													7	140	---	---	---	---					
ATP2C2	9914	broad.mit.edu	37	16	84486756	84486757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr16:84486756_84486757insC	ENST00000416219.2	+	19	1933_1934	c.1844_1845insC	c.(1843-1845)gctfs	p.A615fs	ATP2C2_ENST00000262429.4_Frame_Shift_Ins_p.A615fs|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	615					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGAAACATCGGCCTGTGCAACG	0.673													4	6	---	---	---	---					
COX10	1352	broad.mit.edu	37	17	14110234	14110235	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr17:14110234_14110235delTC	ENST00000261643.3	+	7	1113_1114	c.1036_1037delTC	c.(1036-1038)gfs	p.S346fs	COX10_ENST00000536205.1_Frame_Shift_Del_p.S154fs|COX10_ENST00000537334.1_Frame_Shift_Del_p.S129fs	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	346					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CTGCATGATGTCGGTCACCCAC	0.658													19	60	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)cca>c	p.PAPAANPS253del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	253	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													5	9	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-FS-A1ZA-06A-11D-A197-08	TCGA-FS-A1ZA-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1506237-707c-48e4-b29e-3110d328b047	2de9e38c-c2f7-4ea8-b501-fab947101dea	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													5	10	---	---	---	---