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
ALMS1	7840	broad.mit.edu	37	2	73680168	73680168	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:73680168C>T	ENST00000264448.6	+	8	6622	c.6511C>T	c.(6511-6513)Ctt>Ttt	p.L2171F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L2129F|ALMS1_ENST00000377715.1_Missense_Mutation_p.L2171F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2171	34 X 47 AA approximate tandem repeat.				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						CTCAAGTGCTCTTGGGCAAGC	0.403000													14	53					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25983445	25983445	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:25983445G>A	ENST00000357085.3	+	8	1404	c.928G>A	c.(928-930)Gat>Aat	p.D310N	TRIM38_ENST00000349458.3_Missense_Mutation_p.D310N	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	310	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCTCTCTGAGGATCGGAGACA	0.438000													23	59					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72500960	72500960	+	Splice_Site	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:72500960G>A	ENST00000319622.6	-	6	1293		c.e6+1		PKM_ENST00000449901.2_Splice_Site|PKM_ENST00000568883.1_Splice_Site|PKM_ENST00000568459.1_Splice_Site|PKM_ENST00000389093.3_Splice_Site|PKM_ENST00000335181.5_Splice_Site|PKM_ENST00000565184.1_Splice_Site|PKM_ENST00000565154.1_Splice_Site	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						ACGGGGACTTGCCTCCGAACC	0.527000													7	54					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117094011	117094011	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:117094011C>T	ENST00000320934.3	-	9	1698	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	356	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGCGTCCCTCCTCATCCACAG	0.552000			T	IGH@	MLCLS								8	63					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72195366	72195366	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:72195366G>T	ENST00000420338.2	+	1	782	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	NODAL_ENST00000287139.3_Silent_p.A189A																							GCACATTGGTGGCAGGCGGTG	0.662000													9	26					0.000274275	0.000321309	1	1	0
MYH4	4622	broad.mit.edu	37	17	10354212	10354212	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10354212C>A	ENST00000255381.2	-	29	3976	c.3865_splice	c.e29-1	p.G1289_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1289					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						TGAAAACTCACCTGTGGAAGA	0.348000													33	85					7.11191e-15	1.26805e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179489205	179489205	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:179489205G>T	ENST00000589042.1	-	242	45026	c.44802C>A	c.(44800-44802)aaC>aaA	p.N14934K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N5869K|TTN_ENST00000342992.6_Missense_Mutation_p.N12366K|TTN_ENST00000359218.5_Missense_Mutation_p.N5994K|TTN_ENST00000591111.1_Missense_Mutation_p.N13293K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N6061K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13293	Fibronectin type-III 8.						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)			CGACATTCAGGTTACAGGAAG	0.363000													23	61					1.9806e-07	2.78107e-07	1	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119219691	119219691	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:119219691A>T	ENST00000494664.1	+	2	546	c.344A>T	c.(343-345)aAc>aTc	p.N115I	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	115						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATTTATCATAACCGGTTTGAT	0.413000													12	72					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605381	45605381	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:45605381G>C	ENST00000267430.5	+	1	232	c.147G>C	c.(145-147)caG>caC	p.Q49H	FANCM_ENST00000542564.2_Missense_Mutation_p.Q49H|FANCM_ENST00000556036.1_Missense_Mutation_p.Q49H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	49					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGGAGGCTCAGCTGGAGTCGG	0.642000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	64					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66189840	66189840	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:66189840G>T	ENST00000273854.3	-	18	3706	c.3106C>A	c.(3106-3108)Cca>Aca	p.P1036T	EPHA5_ENST00000354839.4_Missense_Mutation_p.P1014T|EPHA5_ENST00000432638.2_Missense_Mutation_p.P873T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1036					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.P1036A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGTTACAATGGCACCATTCCG	0.418000										TSP Lung(17;0.13)			7	46					8.12818e-05	9.74741e-05	1	1	0
CYP24A1	1591	broad.mit.edu	37	20	52773958	52773958	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:52773958G>T	ENST00000216862.3	-	10	1796	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A326E|CYP24A1_ENST00000395955.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	468					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTGAAGCTCTGCTAATCGGCG	0.428000													25	45					7.41945e-09	1.11936e-08	1	1	0
CCDC66	285331	broad.mit.edu	37	3	56649263	56649263	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:56649263G>C	ENST00000394672.3	+	12	1744	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	CCDC66_ENST00000436465.2_Missense_Mutation_p.K558N|CCDC66_ENST00000326595.7_Missense_Mutation_p.K524N	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	558										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TGGCGCAAAAGGGACATGACA	0.368000													5	48					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653400	1653400	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:1653400C>G	ENST00000252804.4	-	17	2202	c.2152G>C	c.(2152-2154)Gca>Cca	p.A718P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	718					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACAGGTTTGCGATGAGGTTC	0.572000													4	46					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967582	105967582	+	Missense_Mutation	SNP	A	A	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:105967582A>C	ENST00000278618.4	+	6	1100	c.878A>C	c.(877-879)gAc>gCc	p.D293A	RP11-677I18.3_ENST00000532422.1_RNA|RP11-677I18.3_ENST00000527594.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	293					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.D293V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TCATTTTGGGACTGTTTTTGC	0.383000													16	38					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509760	198509760	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:198509760C>A	ENST00000309309.7	-	2	126	c.21G>T	c.(19-21)ggG>ggT	p.G7G	ATP6V1G3_ENST00000281087.2_Silent_p.G7G|ATP6V1G3_ENST00000489986.1_Silent_p.G7G|ATP6V1G3_ENST00000367381.1_Silent_p.G7G|ATP6V1G3_ENST00000367382.1_Silent_p.G7G	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	7					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GCTGGTGGATCCCCTGAGACT	0.448000													23	89					1.36565e-18	2.56269e-18	1	1	0
CRYGC	1420	broad.mit.edu	37	2	208993082	208993082	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:208993082G>T	ENST00000282141.3	-	3	407	c.370C>A	c.(370-372)Ctc>Atc	p.L124I		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	124	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCACGTGGAGGGAACGGATC	0.632000													8	46					1.06961e-07	1.51945e-07	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92733916	92733916	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:92733916C>G	ENST00000379958.2	-	3	1764	c.1495G>C	c.(1495-1497)Gac>Cac	p.D499H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	499						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTCAAGGTCTAACCTGCCA	0.383000													31	81					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183019	60183019	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:60183019C>T	ENST00000300187.6	+	5	855	c.578C>T	c.(577-579)tCa>tTa	p.S193L	MS4A14_ENST00000531787.1_Missense_Mutation_p.S81L|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.S226L|MS4A14_ENST00000395005.2_Missense_Mutation_p.S176L	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	193						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGTGATGATTCAACAACAAAT	0.383000													21	52					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50589769	50589769	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:50589769C>A	ENST00000442544.2	+	6	1696	c.1080C>A	c.(1078-1080)ccC>ccA	p.P360P	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Silent_p.P15P|DCC_ENST00000412726.1_Silent_p.P208P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	360	Ig-like C2-type 4.				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)		AGCCTGTGCCCACTGTGAATT	0.368000													8	158					5.18039e-06	6.71573e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179642504	179642504	+	Silent	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:179642504T>C	ENST00000589042.1	-	25	4631	c.4407A>G	c.(4405-4407)ttA>ttG	p.L1469L	TTN_ENST00000460472.2_Silent_p.L1423L|TTN_ENST00000342992.6_Silent_p.L1469L|TTN_ENST00000359218.5_Silent_p.L1423L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Silent_p.L1469L|TTN_ENST00000360870.5_Silent_p.L1469L|TTN_ENST00000342175.6_Silent_p.L1423L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1469	Ig-like 6.						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)			TTTGCCCTTCTAAACATTTGA	0.418000													17	54					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723447	196723447	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:196723447C>T	ENST00000312428.6	-	43	7918	c.7818G>A	c.(7816-7818)caG>caA	p.Q2606Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2606	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						CCAACTCCATCTGCATTGTGG	0.368000													20	74					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101591889	101591889	+	Splice_Site	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:101591889G>C	ENST00000370449.4	+	23	3371		c.e23+1			NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTGCCGGCGTAAGTATCTC	0.433000													6	46					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878341	44878341	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:44878341G>T	ENST00000355387.2	+	2	1022	c.572G>T	c.(571-573)gGc>gTc	p.G191V	RNF220_ENST00000361799.2_Missense_Mutation_p.G191V|RNF220_ENST00000372247.2_Missense_Mutation_p.G191V			Q5VTB9	RN220_HUMAN	ring finger protein 220	191					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCTGTCTCTGGCCTCATTTCT	0.517000													12	68					7.03913e-09	1.06462e-08	1	1	0
POLG2	11232	broad.mit.edu	37	17	62492934	62492934	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:62492934C>A	ENST00000539111.2	-	1	220	c.153G>T	c.(151-153)gaG>gaT	p.E51D		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	51					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CGCCGTTCCCCTCGAGCTCCG	0.612000													18	68					1.56452e-12	2.67952e-12	1	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44032304	44032304	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:44032304G>A	ENST00000260605.8	+	12	1012	c.912G>A	c.(910-912)acG>acA	p.T304T	DYNC2LI1_ENST00000443170.3_Silent_p.T178T|DYNC2LI1_ENST00000605786.1_Silent_p.T305T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	304						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTATTAACACGCTGAAAGATA	0.388000													7	55					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646190	93646190	+	Silent	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:93646190A>T	ENST00000394236.3	-	2	454	c.138T>A	c.(136-138)ctT>ctA	p.L46L	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	46	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGGTTTCTTCAAGTAAAGAAT	0.383000													7	49					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040727	147040727	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:147040727G>T	ENST00000265272.5	-	3	878	c.411C>A	c.(409-411)gcC>gcA	p.A137A	JAKMIP2_ENST00000507386.1_Silent_p.A137A|JAKMIP2_ENST00000333010.6_Silent_p.A95A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	137						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCCCGGGCCTCAATGG	0.562000													13	142					5.50884e-06	7.06619e-06	1	1	0
CHST12	55501	broad.mit.edu	37	7	2472659	2472659	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:2472659C>T	ENST00000258711.6	+	2	520	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	129					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.R129W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCGTGCTGCGGGGCTTCTG	0.701000													7	54					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24469567	24469567	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:24469567C>A	ENST00000270800.1	-	1	44	c.6G>T	c.(4-6)agG>agT	p.R2S		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	2						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCAGCAGCGTCCTCATCGGGG	0.642000													3	12					6.4e-05	7.73769e-05	1	1	0
PAK3	5063	broad.mit.edu	37	X	110459767	110459767	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:110459767C>A	ENST00000519681.1	+	18	2031	c.1589C>A	c.(1588-1590)tCt>tAt	p.S530Y	PAK3_ENST00000446737.1_Missense_Mutation_p.S509Y|PAK3_ENST00000425146.1_Missense_Mutation_p.S509Y|PAK3_ENST00000372010.1_Missense_Mutation_p.S524Y|PAK3_ENST00000360648.4_Missense_Mutation_p.S545Y|PAK3_ENST00000417227.1_Missense_Mutation_p.S530Y|PAK3_ENST00000262836.4_Missense_Mutation_p.S524Y|PAK3_ENST00000518291.1_Missense_Mutation_p.S545Y|PAK3_ENST00000372007.4_Missense_Mutation_p.S509Y			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	524	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.S545Y(1)|p.S509Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCGAGGATCTGCCAAGGAG	0.433000										TSP Lung(19;0.15)			9	34					4.68919e-08	6.80436e-08	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247920902	247920902	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:247920902C>A	ENST00000408896.2	-	1	1080	c.807G>T	c.(805-807)gaG>gaT	p.E269D		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGTGTCGCTCTCAGGCATAT	0.512000													12	61					2.27111e-07	3.16705e-07	1	1	0
CUX2	23316	broad.mit.edu	37	12	111758183	111758183	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:111758183C>G	ENST00000261726.6	+	17	2524	c.2370C>G	c.(2368-2370)gcC>gcG	p.A790A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	790						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACCACTGGGCCTCCGACCGCG	0.711000													5	42					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38279319	38279319	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:38279319C>A	ENST00000447712.2	-	8	2018	c.1077G>T	c.(1075-1077)ctG>ctT	p.L359L	FGFR1_ENST00000532791.1_Silent_p.L359L|FGFR1_ENST00000335922.5_Silent_p.L351L|FGFR1_ENST00000326324.6_Silent_p.L268L|FGFR1_ENST00000356207.5_Silent_p.L270L|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000425967.3_Silent_p.L390L|FGFR1_ENST00000397091.5_Silent_p.L357L|FGFR1_ENST00000397108.4_Silent_p.L357L|FGFR1_ENST00000397113.2_Silent_p.L357L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	359					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTGTACCTTCCAGAACGGTCA	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						11	52					3.07112e-06	3.99837e-06	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17330758	17330758	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:17330758G>T	ENST00000380647.3	+	9	1554	c.1470G>T	c.(1468-1470)aaG>aaT	p.K490N	CNTLN_ENST00000425824.1_Missense_Mutation_p.K490N|CNTLN_ENST00000262360.5_Missense_Mutation_p.K490N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	490						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTGCCAACAAGGGTTTCTCCC	0.378000													7	117					0.0381472	0.039783	1	1	0
SASS6	163786	broad.mit.edu	37	1	100568571	100568571	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:100568571C>A	ENST00000287482.5	-	14	1754	c.1614G>T	c.(1612-1614)caG>caT	p.Q538H	SASS6_ENST00000535161.1_Missense_Mutation_p.Q371H|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	538					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GGAAGGTATTCTGGAATGCAA	0.378000													9	55					5.16669e-11	8.46724e-11	1	1	0
RGS1	5996	broad.mit.edu	37	1	192547550	192547550	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:192547550T>C	ENST00000469578.2	+	4	499	c.479T>C	c.(478-480)aTa>aCa	p.I160T	RGS1_ENST00000367459.3_Intron			Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	0	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AGTTTCTCCATAAAAGACCCT	0.299000													5	57					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664210	124664210	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:124664210C>A	ENST00000325995.7	-	1	980	c.957G>T	c.(955-957)ccG>ccT	p.P319P	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	319										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ACAGCCGTGTCGGGAGTTTGG	0.592000													5	46					1	1	1	1	0
ADAM29	11086	broad.mit.edu	37	4	175898849	175898849	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:175898849C>A	ENST00000359240.3	+	5	2843	c.2173C>A	c.(2173-2175)Cct>Act	p.P725T	ADAM29_ENST00000445694.1_Missense_Mutation_p.P725T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P725T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P725T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	725					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)		TCAGCGTCGACCTCATGAGTT	0.448000													10	60					7.48243e-07	1.02462e-06	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77738625	77738625	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:77738625C>A	ENST00000407578.2	-	43	6777	c.6511G>T	c.(6511-6513)Gca>Tca	p.A2171S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A2133S|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A2133S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAGAGCTGCTGCACAAACC	0.353000													13	32					0.000422831	0.000494388	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59878620	59878620	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:59878620C>G	ENST00000259008.2	-	8	1401	c.1134G>C	c.(1132-1134)agG>agC	p.R378S	BRIP1_ENST00000577598.1_Missense_Mutation_p.R378S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	378	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCACACTTTCCCTTATTTGTG	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					29	97					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98691075	98691075	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:98691075A>G	ENST00000288985.7	+	11	2018	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.S382S	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	571	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GTACAAAATCAGAGGAAAGAC	0.383000													7	63					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793831	65793831	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:65793831G>T	ENST00000312106.5	-	1	157	c.20C>A	c.(19-21)cCt>cAt	p.P7H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	7					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGCCTTTTCAGGCACTGAGTT	0.547000													32	88					6.00712e-18	1.11352e-17	1	1	0
SERPINA7	6906	broad.mit.edu	37	X	105278270	105278270	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:105278270C>T	ENST00000327674.4	-	3	1335	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.D334N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	334					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAGAAAAATCAGCATTTTCA	0.393000													3	36					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12836858	12836858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:12836858C>A	ENST00000309660.5	-	3	286	c.193G>T	c.(193-195)Gag>Tag	p.E65*	PTPN2_ENST00000353319.4_Nonsense_Mutation_p.E65*|PTPN2_ENST00000327283.3_Nonsense_Mutation_p.E65*|PTPN2_ENST00000591497.1_Nonsense_Mutation_p.E36*|PTPN2_ENST00000591115.1_Nonsense_Mutation_p.E65*|PTPN2_ENST00000589086.1_5'UTR	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	65	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.E65Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TAATCATTCTCAGCATTTTGC	0.323000													10	52					7.48243e-07	1.02462e-06	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43034788	43034788	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:43034788G>T	ENST00000316099.3	+	2	295	c.206G>T	c.(205-207)gGc>gTc	p.G69V	HNF4A_ENST00000415691.1_Missense_Mutation_p.G69V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G47V|HNF4A_ENST00000443598.2_Missense_Mutation_p.G69V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	69					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGGCCACGGGCAAACACTAC	0.637000													29	57					1.5548e-18	2.89975e-18	1	1	0
EIF2D	1939	broad.mit.edu	37	1	206784708	206784708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:206784708C>A	ENST00000271764.2	-	2	284	c.76G>T	c.(76-78)Gtg>Ttg	p.V26L	EIF2D_ENST00000367114.3_Missense_Mutation_p.V26L	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	26					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAGTTGTCACATCAGCTCGA	0.458000													14	31					3.27435e-08	4.78559e-08	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54800582	54800582	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:54800582G>T	ENST00000218436.6	-	6	864	c.835C>A	c.(835-837)Cct>Act	p.P279T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	279					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTCTCCATAGGTGGAAGGCCT	0.403000													3	10					6.4e-05	7.73769e-05	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70800566	70800566	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:70800566G>T	ENST00000333538.5	+	2	903	c.269G>T	c.(268-270)gGt>gTt	p.G90V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	90						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)				CTCATTGAAGGTTATGGTGGG	0.463000													17	42					8.28177e-16	1.49416e-15	1	1	0
TENM1	10178	broad.mit.edu	37	X	123540246	123540246	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:123540246C>A	ENST00000422452.2	-	26	5139	c.5076G>T	c.(5074-5076)gaG>gaT	p.E1692D	TENM1_ENST00000371130.3_Missense_Mutation_p.E1685D|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGTATCTAGCTCCACTTTTG	0.458000													23	62					6.44725e-10	1.01553e-09	1	1	0
MYH2	4620	broad.mit.edu	37	17	10443933	10443933	+	Missense_Mutation	SNP	T	T	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10443933T>G	ENST00000245503.5	-	11	1370	c.986A>C	c.(985-987)cAg>cCg	p.Q329P	MYH2_ENST00000532183.1_Missense_Mutation_p.Q329P|MYH2_ENST00000397183.2_Missense_Mutation_p.Q329P|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	329	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTTCTTCCTGATCATCGAT	0.408000													12	28					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3447574	3447574	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:3447574G>A	ENST00000324266.5	+	6	1637	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481H	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	481							binding										TTCTCGATGCGCATCTTGCAC	0.542000													3	26					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170037777	170037777	+	Silent	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:170037777T>A	ENST00000284637.9	-	10	2123	c.1782A>T	c.(1780-1782)gcA>gcT	p.A594A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	594						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTTGTGCGCTGCAACTAGTA	0.532000													6	50					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651957	152651957	+	Silent	SNP	C	C	A	rs112266645	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:152651957C>A	ENST00000367255.5	-	78	14464	c.13863G>T	c.(13861-13863)acG>acT	p.T4621T	SYNE1_ENST00000341594.5_Silent_p.T4368T|SYNE1_ENST00000265368.4_Silent_p.T4621T|SYNE1_ENST00000423061.1_Silent_p.T4550T|SYNE1_ENST00000448038.1_Silent_p.T4550T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4621					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)		TTCTCTGCAGCGTAAGTAGAA	0.378000										HNSCC(10;0.0054)			11	107					3.07112e-06	3.99837e-06	1	1	0
WDR96	80217	broad.mit.edu	37	10	105971861	105971861	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:105971861A>G	ENST00000357060.3	-	5	754	c.639T>C	c.(637-639)gtT>gtC	p.V213V	WDR96_ENST00000369720.1_Silent_p.V143V|WDR96_ENST00000428666.1_Silent_p.V213V|WDR96_ENST00000278064.2_Silent_p.V143V|WDR96_ENST00000369719.1_Silent_p.V143V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	213										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTGGGGGAAAACGACATCCG	0.478000													11	47					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250297	140250297	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:140250297C>A	ENST00000398640.2	+	1	1609	c.1609C>A	c.(1609-1611)Cgc>Agc	p.R537S	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1												p.R537C(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.672000													15	97					6.31663e-08	9.0578e-08	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156908257	156908257	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:156908257T>A	ENST00000368194.3	-	38	5184	c.4145A>T	c.(4144-4146)cAg>cTg	p.Q1382L	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.Q758L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.Q1342L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1342					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTCTGACTGGCCACTCTC	0.557000													15	51					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845359	52845359	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:52845359C>T	ENST00000252252.3	-	1	551	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	168	Coil 1A.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTTGAGGGTCTTGATCTGCT	0.582000													13	72					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409620	130409620	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:130409620C>A	ENST00000370904.1	-	22	3899	c.2989G>T	c.(2989-2991)Gga>Tga	p.G997*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.G1006*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.G1011*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.G997*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1006	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGGCTTCTCCTTCTTTGTGC	0.532000													14	40					9.31168e-06	1.18939e-05	1	1	0
RCC2	55920	broad.mit.edu	37	1	17743063	17743063	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:17743063G>A	ENST00000375436.4	-	8	1126	c.939C>T	c.(937-939)gcC>gcT	p.A313A	RCC2_ENST00000375433.3_Silent_p.A313A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	313					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CAATGAAGATGGCCACTCGCC	0.562000													9	39					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8608987	8608987	+	Missense_Mutation	SNP	T	T	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:8608987T>G	ENST00000378641.3	+	4	768	c.293T>G	c.(292-294)cTg>cGg	p.L98R	PLCB1_ENST00000338037.6_Missense_Mutation_p.L98R|PLCB1_ENST00000378637.2_Missense_Mutation_p.L98R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	98					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						ATCGGGCGCCTGGAGCAGCGC	0.463000													9	30					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118770638	118770638	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:118770638C>A	ENST00000334801.3	-	7	4358	c.3394G>T	c.(3394-3396)Ggc>Tgc	p.G1132C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1132	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCCGGAGCCCTGCGGTGGT	0.692000													12	17					5.50884e-06	7.06619e-06	1	1	0
SCML2	10389	broad.mit.edu	37	X	18259465	18259465	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:18259465C>A	ENST00000251900.4	-	15	2168	c.2009G>T	c.(2008-2010)aGt>aTt	p.S670I	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	670	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CATCACATCACTCTTGAGTAG	0.338000													13	42					4.7546e-09	7.28161e-09	1	1	0
CDH11	1009	broad.mit.edu	37	16	65025671	65025671	+	Splice_Site	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:65025671T>A	ENST00000394156.3	-	6	1264	c.811_splice	c.e6+1	p.S271_splice	CDH11_ENST00000566827.1_Splice_Site_p.S145_splice|CDH11_ENST00000268603.4_Splice_Site_p.S271_splice			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	271	Cadherin 3.			SV -> RL (in Ref. 1; AAA35622 and 5; no nucleotide entry).	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)		ACCTACTTACTCTGCGGAAAC	0.488000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	33					0	0	1	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434417	3434417	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:3434417G>C	ENST00000574940.1	-	5	1463	c.1276C>G	c.(1276-1278)Cca>Gca	p.P426A	ZSCAN32_ENST00000422427.2_Missense_Mutation_p.P214A|ZSCAN32_ENST00000439568.2_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000396846.3_Intron|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.P137A|ZSCAN32_ENST00000396852.4_Intron|ZSCAN32_ENST00000304926.3_Intron					zinc finger and SCAN domain containing 32																		CTCTAAAGTGGACTTTGCCAT	0.483000													8	78					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034787	43034787	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:43034787G>T	ENST00000316099.3	+	2	294	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	HNF4A_ENST00000415691.1_Missense_Mutation_p.G69C|HNF4A_ENST00000457232.1_Missense_Mutation_p.G47C|HNF4A_ENST00000443598.2_Missense_Mutation_p.G69C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	69					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGGCCACGGGCAAACACTA	0.637000													29	57					1.5548e-18	2.89975e-18	1	1	0
ATP6V1E1	529	broad.mit.edu	37	22	18096048	18096048	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr22:18096048C>G	ENST00000253413.5	-	3	320	c.138G>C	c.(136-138)gtG>gtC	p.V46V	ATP6V1E1_ENST00000399798.2_Silent_p.V24V|ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Silent_p.V46V	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	46					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TTTGGGTTTGCACAAGCCGAC	0.343000													6	36					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328427	152328427	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:152328427C>A	ENST00000388718.5	-	3	1907	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	612	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)			CTGACCTGATCTAGACTCATG	0.507000													30	435					1.39806e-14	2.47098e-14	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144943195	144943195	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:144943195C>A	ENST00000525985.1	-	2	4298	c.4227G>T	c.(4225-4227)cgG>cgT	p.R1409R				P58107	EPIPL_HUMAN	epiplakin 1	1409						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACCTGGTCCCGCGCACTGG	0.607000													4	20					0.00024832	0.000293162	1	1	0
CLEC4E	26253	broad.mit.edu	37	12	8687304	8687304	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:8687304C>A	ENST00000299663.3	-	6	755	c.590G>T	c.(589-591)tGt>tTt	p.C197F	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.C152F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	197	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATTGAGGAAACAGGTTACATC	0.408000													8	46					0.00307968	0.00339827	1	1	0
TRBV25-1	28562	broad.mit.edu	37	7	142378858	142378858	+	RNA	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:142378858T>C	ENST00000390398.3	+	0	163																											CTCTGGAATGTTCTCAAACCA	0.433000													64	91					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338044	151338044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:151338044C>A	ENST00000426705.2	-	9	1309	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*	SELENBP1_ENST00000435071.1_Nonsense_Mutation_p.G283*|SELENBP1_ENST00000368868.5_Nonsense_Mutation_p.G347*|SELENBP1_ENST00000447402.3_Nonsense_Mutation_p.G285*	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	347					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)			TCCACCTGTCCTGTGAGGCGG	0.582000													22	204					7.45023e-12	1.24786e-11	1	1	0
ABCD2	225	broad.mit.edu	37	12	40012755	40012755	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:40012755C>A	ENST00000308666.3	-	1	798	c.663G>T	c.(661-663)gtG>gtT	p.V221V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	221	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACAAGTGAGCCACAGATTGGG	0.408000													24	75					3.08376e-08	4.52881e-08	1	1	0
TCFL5	10732	broad.mit.edu	37	20	61492893	61492893	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:61492893G>T	ENST00000335351.3	-	1	222	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	TCFL5_ENST00000217162.5_De_novo_Start_InFrame	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	44					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACCAGGCTCAGGTCGGTGGTC	0.746000													6	10					2.0095e-06	2.66182e-06	1	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020844	33020844	+	RNA	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:33020844G>T	ENST00000565407.2	+	0	252				RP11-19N8.2_ENST00000567619.1_RNA																							ACTCTGTGAAGGGCCGATTCA	0.512000													14	257					1.05317e-09	1.64609e-09	1	1	0
PIR	8544	broad.mit.edu	37	X	15444094	15444094	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:15444094G>A	ENST00000380421.3	-	6	960	c.500C>T	c.(499-501)aCa>aTa	p.T167I	PIR_ENST00000380420.5_Missense_Mutation_p.T167I	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	167					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAAGGTTGGTGTGCGAGTGTA	0.428000													18	34					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262930	167262930	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:167262930G>T	ENST00000409855.1	-	25	4335	c.4209C>A	c.(4207-4209)gcC>gcA	p.A1403A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1403					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						TTTTAACATAGGCAAAATTAT	0.373000													24	76					1.22574e-08	1.83559e-08	1	1	0
GAS6	2621	broad.mit.edu	37	13	114526417	114526417	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:114526417G>T	ENST00000357389.3	-	13	1865	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	GAS6_ENST00000327773.6_Silent_p.P528P|GAS6_ENST00000418959.3_Silent_p.P229P|GAS6_ENST00000355761.4_Silent_p.P474P|GAS6_ENST00000450766.1_Silent_p.P255P|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000480426.1_5'UTR			Q14393	GAS6_HUMAN	growth arrest-specific 6	571	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACGGAGGTCGGGGGCCCAGA	0.627000													15	28					6.31663e-08	9.0578e-08	1	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260947	30260947	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:30260947G>T	ENST00000378982.2	+	1	891	c.695G>T	c.(694-696)gGa>gTa	p.G232V		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	232	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ATCTATGATGGAAAGAGGCAC	0.483000													9	40					0.000442599	0.000514532	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101569296	101569296	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:101569296G>T	ENST00000284395.5	+	21	3213	c.2813G>T	c.(2812-2814)cGg>cTg	p.R938L	LRRK1_ENST00000388948.3_Missense_Mutation_p.R941L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	941					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGGGCTCTCGGTCAGTGGCC	0.547000													13	37					7.93312e-07	1.08147e-06	1	1	0
CD44	960	broad.mit.edu	37	11	35198175	35198175	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:35198175C>T	ENST00000263398.6	+	2	555	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	CD44_ENST00000449691.2_Missense_Mutation_p.R41C|CD44_ENST00000437706.2_Missense_Mutation_p.R41C|CD44_ENST00000352818.4_Missense_Mutation_p.R41C|CD44_ENST00000434472.2_Missense_Mutation_p.R41C|CD44_ENST00000433892.2_Missense_Mutation_p.R41C|CD44_ENST00000278386.6_Missense_Mutation_p.R41C|CD44_ENST00000415148.2_Missense_Mutation_p.R41C|CD44_ENST00000428726.2_Missense_Mutation_p.R41C|CD44_ENST00000526025.1_Missense_Mutation_p.R41C|CD44_ENST00000433354.2_Missense_Mutation_p.R41C|CD44_ENST00000360158.4_Missense_Mutation_p.R41C|CD44_ENST00000526669.2_Missense_Mutation_p.R41C	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	41	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GAAAAATGGTCGCTACAGCAT	0.453000													6	31					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20455916	20455916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:20455916C>A	ENST00000361078.2	-	16	2528	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	PUM2_ENST00000536417.1_Nonsense_Mutation_p.E778*|PUM2_ENST00000319801.5_Nonsense_Mutation_p.E757*|PUM2_ENST00000338086.5_Nonsense_Mutation_p.E834*|PUM2_ENST00000403432.1_Nonsense_Mutation_p.E834*			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	836	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCAGCTCCTTTACCATT	0.328000													13	84					1.3612e-06	1.84323e-06	1	1	0
AMOT	154796	broad.mit.edu	37	X	112033822	112033822	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:112033822C>A	ENST00000371959.3	-	7	2114	c.2115G>T	c.(2113-2115)caG>caT	p.Q705H	AMOT_ENST00000524145.1_Missense_Mutation_p.Q705H|AMOT_ENST00000371958.1_Missense_Mutation_p.Q473H|AMOT_ENST00000304758.1_Missense_Mutation_p.Q296H|AMOT_ENST00000371962.1_Missense_Mutation_p.Q473H	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	705					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTACTTACCTCTGAGCAGCCA	0.428000													60	102					1.65906e-26	3.17204e-26	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211280606	211280606	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:211280606T>C	ENST00000367007.4	-	2	362	c.193A>G	c.(193-195)Agc>Ggc	p.S65G	KCNH1_ENST00000271751.4_Missense_Mutation_p.S65G	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	65	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGCAGGTGCTGCTTTTTTGC	0.418000													17	70					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292763	91292763	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:91292763T>C	ENST00000355112.3	+	3	383	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L	BLM_ENST00000560509.1_Missense_Mutation_p.F89L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	89					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGTCAAGGACTTCTTTAAAAA	0.398000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				6	70					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48766501	48766501	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:48766501G>C	ENST00000316623.5	-	34	4616	c.4161C>G	c.(4159-4161)taC>taG	p.Y1387*		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1387	EGF-like 23; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGACAGCGGTAAGATCCCA	0.448000													6	30					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475239	140475239	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:140475239G>T	ENST00000194155.4	+	1	1013	c.865G>T	c.(865-867)Gac>Tac	p.D289Y		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		289	Cadherin 3.				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)			AGCATCTGAAGACATTCGCAA	0.423000													6	58					0.0215528	0.0227107	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141093354	141093354	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:141093354G>T	ENST00000389484.3	-	78	12917	c.11946C>A	c.(11944-11946)aaC>aaA	p.N3982K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3982					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTAAATGTTTCCAGCCA	0.443000										TSP Lung(27;0.18)			23	74					9.57634e-11	1.5568e-10	1	1	0
SH2D3C	10044	broad.mit.edu	37	9	130513535	130513535	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:130513535G>T	ENST00000314830.8	-	4	713	c.600C>A	c.(598-600)ctC>ctA	p.L200L	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Silent_p.L42L|SH2D3C_ENST00000373274.3_Silent_p.L40L|SH2D3C_ENST00000373276.3_Silent_p.L132L|SH2D3C_ENST00000373277.4_Silent_p.L43L|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	200					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATTCCTTGTGGAGTTTCTCTG	0.542000													18	62					6.94344e-10	1.09086e-09	1	1	0
HCN4	10021	broad.mit.edu	37	15	73615910	73615910	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:73615910G>T	ENST00000261917.3	-	8	3517	c.2524C>A	c.(2524-2526)Ccc>Acc	p.P842T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	842					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGCTGGCGGGCGAGGCGGAG	0.667000													10	46					3.86212e-05	4.72469e-05	1	1	0
GRM1	2911	broad.mit.edu	37	6	146708034	146708034	+	Silent	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:146708034G>C	ENST00000392299.2	+	7	2081	c.1611G>C	c.(1609-1611)cgG>cgC	p.R537R	GRM1_ENST00000282753.1_Silent_p.R537R|GRM1_ENST00000492807.2_Silent_p.R537R|GRM1_ENST00000361719.2_Silent_p.R537R|GRM1_ENST00000507907.1_Silent_p.R537R|GRM1_ENST00000355289.4_Silent_p.R537R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	537					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)	AGGTTATACGGAAAGGAGAAG	0.383000													7	54					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96035912	96035912	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:96035912C>G	ENST00000515059.1	+	5	468	c.185C>G	c.(184-186)tCt>tGt	p.S62C	BMPR1B_ENST00000264568.4_Missense_Mutation_p.S62C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000502683.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S92C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	62					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAGGATGACTCTGGGTTGCCT	0.443000													10	191					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589719	108589719	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:108589719C>G	ENST00000332082.4	+	3	928	c.110C>G	c.(109-111)tCt>tGt	p.S37C	WSCD2_ENST00000261400.3_Missense_Mutation_p.S37C|WSCD2_ENST00000547525.1_Missense_Mutation_p.S37C|WSCD2_ENST00000549903.1_Missense_Mutation_p.S37C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	37						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TTCCTTCACTCTGGCTTTGTG	0.602000													26	120					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681694	55681694	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:55681694C>A	ENST00000344514.1	-	1	364	c.365G>T	c.(364-366)cGg>cTg	p.R122L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCCTTGTACCGATCAAAGGC	0.458000													29	48					9.39395e-14	1.64124e-13	1	1	0
NR5A2	2494	broad.mit.edu	37	1	200080355	200080355	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:200080355A>G	ENST00000367362.3	+	6	1382	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	NR5A2_ENST00000236914.3_Missense_Mutation_p.Q333R|NR5A2_ENST00000544748.1_Missense_Mutation_p.Q307R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	379	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAGCTGCTTCAGAACTGCTGG	0.383000													10	51					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863775	176863775	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:176863775G>T	ENST00000367654.2	-	17	2900	c.2887C>A	c.(2887-2889)Cct>Act	p.P963T	ASTN1_ENST00000361833.2_Missense_Mutation_p.P955T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P955T|ASTN1_ENST00000424564.2_Missense_Mutation_p.P955T			O14525	ASTN1_HUMAN	astrotactin 1	963					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCTCAGCAGGGGTGTCAGGG	0.612000													14	66					2.31682e-05	2.88653e-05	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3216823	3216823	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:3216823G>C	ENST00000520002.1	-	22	3713	c.3158C>G	c.(3157-3159)gCc>gGc	p.A1053G	CSMD1_ENST00000542608.1_Missense_Mutation_p.A1052G|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1053G|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1052G|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1052G|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1053G|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1053G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1053	Sushi 6.					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)		TCGGCTGAAGGCAGGGACTCC	0.463000													10	38					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028625	100028625	+	Translation_Start_Site	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:100028625G>A	ENST00000414441.1	+	0	612				MEPCE_ENST00000310512.2_Silent_p.V328V	NM_001194990.1|NM_001194991.1|NM_001194992.1	NP_001181919.1|NP_001181920.1|NP_001181921.1	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme								methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGATGAAGTGGTGTCTCCCC	0.632000													46	106					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532878	84532878	+	RNA	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:84532878C>T	ENST00000527857.1	+	0	2900					NR_026851.1																						CTTTATTTCTCAGGGAGATTC	0.433000													3	18					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89058946	89058946	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:89058946C>A	ENST00000286614.6	-	9	1721	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	480	Hemopexin-like 3.				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						GGATCCCTTTCCAGACTGTGA	0.378000													6	60					0.0215528	0.0227107	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66189839	66189839	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:66189839G>A	ENST00000273854.3	-	18	3707	c.3107C>T	c.(3106-3108)cCa>cTa	p.P1036L	EPHA5_ENST00000354839.4_Missense_Mutation_p.P1014L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P873L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1036					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGTTACAATGGCACCATTCC	0.413000										TSP Lung(17;0.13)			6	44					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662343	99662343	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:99662343T>A	ENST00000373034.4	-	1	2928	c.1253A>T	c.(1252-1254)cAa>cTa	p.Q418L	PCDH19_ENST00000255531.7_Missense_Mutation_p.Q418L|PCDH19_ENST00000420881.2_Missense_Mutation_p.Q418L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGGTTGTATTGGTCGTGCTG	0.572000													15	44					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78617595	78617595	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:78617595G>A	ENST00000306801.3	+	3	695	c.333G>A	c.(331-333)gaG>gaA	p.E111E	RPTOR_ENST00000537330.1_Intron|RPTOR_ENST00000544334.2_Silent_p.E111E|RPTOR_ENST00000570891.1_Silent_p.E111E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	111					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						AGCAGTACGAGAACTGGCAGC	0.463000													3	24					0	0	1	0	0
FAM21A	387680	broad.mit.edu	37	10	51889183	51889183	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:51889183G>T	ENST00000351071.6	+	28	3147	c.3029G>T	c.(3028-3030)cGt>cTt	p.R1010L	FAM21A_ENST00000399339.2_Missense_Mutation_p.R943L|FAM21A_ENST00000282633.5_Missense_Mutation_p.R1031L|FAM21A_ENST00000314664.7_Missense_Mutation_p.R969L			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1031					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTGCAGAGCCGTGTCAAGATG	0.493000													6	55					0.000157383	0.000186893	1	1	0
IFIT2	3433	broad.mit.edu	37	10	91065912	91065912	+	Missense_Mutation	SNP	A	A	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:91065912A>C	ENST00000371826.3	+	2	368	c.199A>C	c.(199-201)Aac>Cac	p.N67H	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	67					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CAAAGGGCAAAACGAGGCAGC	0.453000													10	53					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582781	228582781	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:228582781C>A	ENST00000493030.2	-	5	4366	c.657G>T	c.(655-657)tgG>tgT	p.W219C	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.W344C			Q96F44	TRI11_HUMAN	tripartite motif containing 11	344					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCTCCACCTCCCAGTAGTGGC	0.701000													14	34					9.31168e-06	1.18939e-05	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77407565	77407565	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:77407565C>A	ENST00000560626.2	-	7	4649	c.4174G>T	c.(4174-4176)Ggt>Tgt	p.G1392C	PEAK1_ENST00000312493.4_Missense_Mutation_p.G1392C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1392	Protein kinase.				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										AGGAAATGACCACAGTCCTGC	0.483000													12	41					0.010729	0.0115252	1	1	0
RNF112	7732	broad.mit.edu	37	17	19318467	19318467	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:19318467G>T	ENST00000461366.1	+	11	1458	c.1243G>T	c.(1243-1245)Gcc>Tcc	p.A415S		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	415							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCGCGCCGTGGCCAGGGGGGA	0.672000													7	21					2.0095e-06	2.66182e-06	1	1	0
TECRL	253017	broad.mit.edu	37	4	65188510	65188510	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:65188510C>A	ENST00000381210.3	-	4	442	c.331_splice	c.e4-1	p.G111_splice	TECRL_ENST00000507440.1_Splice_Site_p.G111_splice	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	111					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAAAGGCCCGCCtaaaataaa	0.318000													6	30					0.00116845	0.00131558	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762208	130762208	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:130762208C>T	ENST00000392429.1	+	2	3019	c.641C>T	c.(640-642)tCg>tTg	p.S214L	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S214L|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S214L	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						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)		GCCTCTTTCTCGGGTTTTCGG	0.478000													14	41					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863457	128863457	+	Missense_Mutation	SNP	A	A	T	rs148092674		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:128863457A>T	ENST00000274487.4	+	5	1230	c.1085A>T	c.(1084-1086)cAa>cTa	p.Q362L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	362	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)		AACCTTTTCCAACACAAGAGT	0.308000													10	60					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719405	15719405	+	Missense_Mutation	SNP	T	T	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:15719405T>G	ENST00000396368.3	-	8	1983	c.1777A>C	c.(1777-1779)Aag>Cag	p.K593Q	KIAA0430_ENST00000602337.1_Missense_Mutation_p.K590Q|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K592Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K590Q|KIAA0430_ENST00000540441.2_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	592						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTGAACTCTTTGTTTCACAG	0.383000													4	83					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79556026	79556026	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:79556026G>A	ENST00000374747.5	-	12	1354	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	NPLOC4_ENST00000539314.1_Missense_Mutation_p.L248F|NPLOC4_ENST00000331134.6_Missense_Mutation_p.L409F			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	409					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCGTAGCCAAGCTCCGGGGCG	0.488000													6	65					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242681	158242681	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:158242681C>A	ENST00000296526.7	+	6	1137	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	GRIA2_ENST00000507898.1_Missense_Mutation_p.S224Y|GRIA2_ENST00000393815.2_Missense_Mutation_p.S224Y|GRIA2_ENST00000264426.9_Missense_Mutation_p.S271Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.S224Y	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	271					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCGTTGGTATCTAAATTTATA	0.358000													19	76					4.96729e-08	7.19074e-08	1	1	0
XPR1	9213	broad.mit.edu	37	1	180775655	180775655	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:180775655A>G	ENST00000367590.4	+	6	841	c.643A>G	c.(643-645)Atg>Gtg	p.M215V	XPR1_ENST00000367589.3_Missense_Mutation_p.M215V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	215						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACAAAAGGCTATGAAGCGTTT	0.378000													16	62					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060436	139060436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:139060436G>T	ENST00000302517.3	+	2	1042	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S	CXXC5_ENST00000511048.1_Missense_Mutation_p.A110S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	110					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGCTGCAGCCGCTGCCTC	0.627000													12	87					1.08611e-07	1.53214e-07	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248844748	248844748	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:248844748G>T	ENST00000342623.3	-	1	881	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACTATATATGATGGGATTGA	0.398000													6	58					0.00116845	0.00131558	1	1	0
PGM5	5239	broad.mit.edu	37	9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:71098912C>T	ENST00000396396.1	+	9	1656	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTGGCGAAGACGGATAGTTTT	0.502000													4	82					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182395322	182395322	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:182395322G>T	ENST00000397033.2	+	24	3040	c.2610G>T	c.(2608-2610)atG>atT	p.M870I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	870					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGAGTGCAATGCAGACCTTGA	0.403000													22	76					2.00529e-23	3.81005e-23	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240111690	240111690	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:240111690G>C	ENST00000345617.3	-	4	969	c.178C>G	c.(178-180)Cct>Gct	p.P60A	HDAC4_ENST00000541256.1_Missense_Mutation_p.P29A	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	60					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTGCCACAGGCAGTGAGAAC	0.642000													7	26					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618715	7618715	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:7618715G>T	ENST00000256861.6	-	10	1757	c.1679C>A	c.(1678-1680)cCc>cAc	p.P560H	ITIH5_ENST00000298441.6_Missense_Mutation_p.P346H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.P560H|ITIH5_ENST00000397145.2_Missense_Mutation_p.P560H|ITIH5_ENST00000446830.2_Missense_Mutation_p.P342H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	560					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCAGGCCTGGGGCTTCCTGT	0.577000													6	38					0.0215528	0.0227107	1	1	0
SEMA4A	64218	broad.mit.edu	37	1	156132761	156132761	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:156132761C>T	ENST00000368285.3	+	10	1277	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	SEMA4A_ENST00000368282.1_Missense_Mutation_p.A337V|SEMA4A_ENST00000368284.1_Missense_Mutation_p.A205V|SEMA4A_ENST00000368286.2_Missense_Mutation_p.A205V|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.A337V	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	337	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGGAGCTCTGCGGTTTGTGCC	0.537000													15	59					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111464013	111464013	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:111464013G>T	ENST00000265162.5	+	12	2256	c.1914G>T	c.(1912-1914)tcG>tcT	p.S638S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	638					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGGGACTCGATAGCTACAG	0.348000													15	52					6.31663e-08	9.0578e-08	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240111691	240111691	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:240111691C>A	ENST00000345617.3	-	4	968	c.177G>T	c.(175-177)ctG>ctT	p.L59L	HDAC4_ENST00000541256.1_Silent_p.L28L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	59					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTGCCACAGGCAGTGAGAACT	0.642000													7	26					5.4927e-09	8.36983e-09	1	1	0
NRAP	4892	broad.mit.edu	37	10	115422490	115422490	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:115422490T>C	ENST00000369358.4	-	3	447	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	NRAP_ENST00000359988.3_Missense_Mutation_p.Y68C|NRAP_ENST00000360478.3_Missense_Mutation_p.Y68C|NRAP_ENST00000369360.3_Missense_Mutation_p.Y68C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	68						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGAGTGTGATAGACACTGGT	0.368000													6	47					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2683263	2683263	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:2683263C>A	ENST00000274643.7	-	7	1021	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	MYLK4_ENST00000268446.5_Missense_Mutation_p.D227Y	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	227	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ACCTTCAGGTCCAAGTGGAGA	0.483000													25	66					7.92952e-12	1.32086e-11	1	1	0
RBPMS2	348093	broad.mit.edu	37	15	65041234	65041234	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:65041234G>T	ENST00000300069.4	-	5	650	c.383C>A	c.(382-384)cCc>cAc	p.P128H	RBPMS2_ENST00000560606.1_Missense_Mutation_p.P17H	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	128							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						TCCTAGGGCGGGGTGCACGTT	0.567000													10	26					0.00621372	0.00675839	1	1	0
TNC	3371	broad.mit.edu	37	9	117848660	117848660	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:117848660G>A	ENST00000350763.4	-	3	1761	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	TNC_ENST00000537320.1_Silent_p.V450V|TNC_ENST00000340094.3_Silent_p.V450V|TNC_ENST00000346706.3_Silent_p.V450V|TNC_ENST00000535648.1_Silent_p.V450V|TNC_ENST00000345230.3_Silent_p.V450V|TNC_ENST00000542877.1_Silent_p.V450V|TNC_ENST00000341037.4_Silent_p.V450V|TNC_ENST00000423613.2_Silent_p.V450V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	450	EGF-like 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATTTGCCCTCGACACAGCGGC	0.572000													12	105					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021573	16021573	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:16021573C>A	ENST00000350896.3	-	5	1015		c.e5+1		MSR1_ENST00000262101.5_Splice_Site|MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000355282.2_Splice_Site|MSR1_ENST00000536385.1_Splice_Site|MSR1_ENST00000381998.4_Splice_Site	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGACATTTTACCTTGAATTAA	0.284000													4	32					0.00909568	0.00978792	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38370436	38370436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:38370436G>T	ENST00000322350.5	+	6	930	c.584G>T	c.(583-585)cGg>cTg	p.R195L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R195L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCCATGAGCGGATCCAGATG	0.498000													9	40					1.58986e-06	2.14332e-06	1	1	0
TMEM177	80775	broad.mit.edu	37	2	120439256	120439256	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:120439256G>T	ENST00000424086.1	+	2	1300	c.827G>T	c.(826-828)gGg>gTg	p.G276V	TMEM177_ENST00000401466.1_Missense_Mutation_p.G276V|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G276V|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	276						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ACACCCAGCGGGAACATCGTC	0.582000													12	48					3.51602e-12	5.98806e-12	1	1	0
OR1E2	8388	broad.mit.edu	37	17	3337040	3337040	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:3337040C>T	ENST00000248384.1	-	1	95	c.96G>A	c.(94-96)ttG>ttA	p.L32L		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	32					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GATACATGGCCAAGAACAGGG	0.517000													12	58					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28053273	28053273	+	Silent	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:28053273A>T	ENST00000377325.1	+	2	571	c.15A>T	c.(13-15)ccA>ccT	p.P5P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	5					viral reproduction	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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACAGAACCAAAGAAAGCTG	0.418000													42	90					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:125424359G>C	ENST00000373686.1	+	1	515	c.515G>C	c.(514-516)cGc>cCc	p.R172P				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458000													29	244					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105758265	105758265	+	Silent	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:105758265T>C	ENST00000393127.2	+	6	1139	c.693T>C	c.(691-693)caT>caC	p.H231H	GRIA4_ENST00000525187.1_Silent_p.H231H|GRIA4_ENST00000282499.5_Silent_p.H231H|GRIA4_ENST00000428631.2_Silent_p.H231H|GRIA4_ENST00000393125.2_Silent_p.H231H|GRIA4_ENST00000530497.1_Silent_p.H231H	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	231					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTGGAAAGCATGTTAAAGGCT	0.264000													13	50					0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34251749	34251749	+	Missense_Mutation	SNP	T	T	C	rs148466061	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:34251749T>C	ENST00000394529.3	-	3	844	c.358A>G	c.(358-360)Agg>Ggg	p.R120G	RDM1_ENST00000394528.3_Missense_Mutation_p.R143G|RDM1_ENST00000419453.2_Missense_Mutation_p.R120G|RDM1_ENST00000430160.2_Missense_Mutation_p.R120G|RDM1_ENST00000293273.6_Missense_Mutation_p.R143G|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.R143G|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000425909.3_Intron	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	143	Necessary for nuclear and nucleolar localization.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCATTTTCCCTTTCTTCAAGG	0.423000								Other identified genes with known or suspected DNA repair function					4	60					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897054	51897054	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:51897054C>A	ENST00000333127.3	+	3	192	c.163C>A	c.(163-165)Cgg>Agg	p.R55R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	55	IQ 1.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCTGGTGGCGGGGCACCCT	0.542000													23	62					1.87028e-06	2.51578e-06	1	1	0
ACTBL2	345651	broad.mit.edu	37	5	56777988	56777988	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:56777988C>A	ENST00000423391.1	-	1	648	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	183						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGGTCTCTCCCTGCCAGATCC	0.527000													10	55					3.86212e-05	4.72469e-05	1	1	0
TG	7038	broad.mit.edu	37	8	133981732	133981732	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:133981732T>A	ENST00000220616.4	+	32	5933	c.5893T>A	c.(5893-5895)Tac>Aac	p.Y1965N	TG_ENST00000542445.1_Missense_Mutation_p.Y335N|TG_ENST00000377869.1_Missense_Mutation_p.Y1908N|TG_ENST00000519543.1_Missense_Mutation_p.Y119N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1965					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGAACTTTTACACTCGCCT	0.353000													7	87					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577488	104577488	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:104577488C>T	ENST00000304883.2	-	3	891	c.751G>A	c.(751-753)Gtc>Atc	p.V251I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	251						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGTATAATGACGATAATATGG	0.368000													7	53					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362825	228362825	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:228362825G>C	ENST00000366711.3	+	3	684	c.682G>C	c.(682-684)Gtt>Ctt	p.V228L	IBA57_ENST00000546123.1_Missense_Mutation_p.V35L|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	228					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCCTGCAGGCGTTCCTGAGGG	0.622000													5	54					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097550	167097550	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:167097550A>T	ENST00000361200.2	+	6	3348	c.3182A>T	c.(3181-3183)aAt>aTt	p.N1061I	DUSP27_ENST00000443333.1_Missense_Mutation_p.N1061I|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N1061I			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1061					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						CAGCGCCCAAATTGGGCCAGG	0.557000													5	19					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47919880	47919880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:47919880C>A	ENST00000442455.3	-	4	488	c.145G>T	c.(145-147)Gga>Tga	p.G49*	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Nonsense_Mutation_p.G63*|ZNF630_ENST00000276054.4_5'UTR	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GGGTCCTTTCCATGTTCCAAC	0.433000													14	105					1.5739e-10	2.52488e-10	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44891225	44891225	+	Missense_Mutation	SNP	G	G	T	rs139844623		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:44891225G>T	ENST00000330997.4	-	4	1246	c.1182C>A	c.(1180-1182)caC>caA	p.H394Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.H394Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.H401Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTCTCCAGTGTGGACTCTCT	0.483000													10	44					0.000442599	0.000514532	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410607	105410607	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:105410607G>A	ENST00000333244.5	-	7	11300	c.11181C>T	c.(11179-11181)ccC>ccT	p.P3727P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3727						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)			TCTTCAAACTGGGCATCTCCA	0.622000													12	167					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811765	102811765	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:102811765G>T	ENST00000456098.1	-	4	637	c.419C>A	c.(418-420)aCc>aAc	p.T140N	IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Missense_Mutation_p.T140N|IGF1_ENST00000307046.8_Missense_Mutation_p.T140N|IGF1_ENST00000337514.6_Intron	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	140					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GTTCTTGTTGGTAGATGGGGG	0.483000													31	161					8.58068e-18	1.58573e-17	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121687629	121687629	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:121687629G>A	ENST00000324774.5	-	13	2112	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D	CAMKK2_ENST00000337174.3_Silent_p.D428D|CAMKK2_ENST00000392474.2_Silent_p.D428D|CAMKK2_ENST00000392473.2_Silent_p.D428D|CAMKK2_ENST00000347034.2_Silent_p.D428D|CAMKK2_ENST00000446440.2_Silent_p.D428D|CAMKK2_ENST00000545538.1_Silent_p.D215D|CAMKK2_ENST00000538733.1_Silent_p.D428D|CAMKK2_ENST00000402834.4_Silent_p.D428D|CAMKK2_ENST00000412367.2_Silent_p.D428D|CAMKK2_ENST00000404169.3_Silent_p.D428D	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	428	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGGTTCTTGTCCAGCATAC	0.612000													9	126					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31384622	31384622	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:31384622G>T	ENST00000268296.4	+	20	2540	c.2419G>T	c.(2419-2421)Gtg>Ttg	p.V807L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V807L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	807					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGAAGTGATGGTGTGGAATGA	0.572000													7	44					0.000274275	0.000321309	1	1	0
MARCH8	220972	broad.mit.edu	37	10	45959700	45959700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:45959700G>A	ENST00000453424.2	-	4	490	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	MARCH8_ENST00000395771.3_Nonsense_Mutation_p.Q77*|MARCH8_ENST00000395769.2_Nonsense_Mutation_p.Q77*|MARCH8_ENST00000319836.3_Nonsense_Mutation_p.Q77*			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	77						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CAGATGTCCTGGCTGGATGGC	0.522000													9	52					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40756559	40756559	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:40756559G>T	ENST00000372759.3	+	9	1258	c.1093G>T	c.(1093-1095)Gta>Tta	p.V365L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	365						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-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;6.3e-18)			TTTATTTGCTGTATTAATTGG	0.338000													5	45					0.217242	0.219772	1	1	0
ZNF623	9831	broad.mit.edu	37	8	144733100	144733100	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:144733100G>C	ENST00000501748.2	+	1	1147	c.1058G>C	c.(1057-1059)gGg>gCg	p.G353A	ZNF623_ENST00000458270.2_Missense_Mutation_p.G313A|ZNF623_ENST00000526926.1_Missense_Mutation_p.G313A	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AATGAGTGTGGGAAGCGCTTC	0.468000													10	51					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257810	98257810	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:98257810G>T	ENST00000265634.3	+	5	1330	c.1165G>T	c.(1165-1167)Gtc>Ttc	p.V389F		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	389	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGAAATTGTCAACATCGC	0.577000													12	15					2.27111e-07	3.16705e-07	1	1	0
BCL2	596	broad.mit.edu	37	18	60795936	60795936	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:60795936C>A	ENST00000398117.1	-	2	2103	c.642G>T	c.(640-642)tgG>tgT	p.W214C	BCL2_ENST00000333681.4_Missense_Mutation_p.W214C|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	214					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCAGAGACAGCCAGGAGAAAT	0.542000			T	IGH@	"""NHL, CLL"""								4	20					0.00024832	0.000293162	1	1	0
IGHV3-35	28432	broad.mit.edu	37	14	106845536	106845536	+	RNA	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:106845536G>A	ENST00000390617.2	-	0	152																											TACTGAAGGTGAATCCAGAGG	0.567000													11	123					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564952	136564952	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:136564952C>A	ENST00000264162.2	-	9	3929	c.3919G>T	c.(3919-3921)Ggt>Tgt	p.G1307C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1307	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)		AGGTCTATACCATCGAGCCTG	0.522000													16	55					1.3612e-06	1.84323e-06	1	1	0
RGS9	8787	broad.mit.edu	37	17	63159148	63159148	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:63159148G>T	ENST00000449996.3	+	7	513	c.441G>T	c.(439-441)ttG>ttT	p.L147F	RGS9_ENST00000443584.3_Missense_Mutation_p.L147F|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Missense_Mutation_p.L147F	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	147					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACAATTTCTTGAACCAAAAAA	0.418000													7	23					1.12685e-05	1.42142e-05	1	1	0
ADGRG6	57211	broad.mit.edu	37	6	142725014	142725014	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:142725014G>T	ENST00000230173.6	+	14	2507	c.2031G>T	c.(2029-2031)cgG>cgT	p.R677R	GPR126_ENST00000367609.3_Silent_p.R677R|GPR126_ENST00000296932.8_Silent_p.R649R|GPR126_ENST00000367608.2_Silent_p.R649R	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	677					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTACAACTCGGAACTTGGCTC	0.368000													6	53					0.217242	0.219772	1	1	0
SLC9A9	285195	broad.mit.edu	37	3	143371146	143371146	+	Missense_Mutation	SNP	A	A	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:143371146A>C	ENST00000316549.6	-	6	914	c.706T>G	c.(706-708)Ttg>Gtg	p.L236V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	236					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCTCCAAACAAGAGTGTGTAC	0.448000													3	22					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925708	195925708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:195925708C>A	ENST00000296326.3	-	6	804	c.725G>T	c.(724-726)gGc>gTc	p.G242V		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	242						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCTGGCACAGCCCTGGTCGAA	0.592000													8	54					1.12685e-05	1.42142e-05	1	1	0
GPR156	165829	broad.mit.edu	37	3	119886755	119886755	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:119886755C>A	ENST00000464295.1	-	10	2014	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	GPR156_ENST00000315843.3_Missense_Mutation_p.Q523H|GPR156_ENST00000461057.1_Missense_Mutation_p.Q519H			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	523						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCCTCTGTCTCTGGGGATCTG	0.562000													27	144					5.61819e-17	1.02578e-16	1	1	0
MGAT1	4245	broad.mit.edu	37	5	180218759	180218759	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:180218759C>A	ENST00000446023.2	-	3	1963	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y	MGAT1_ENST00000393340.3_Missense_Mutation_p.D405Y|MGAT1_ENST00000307826.4_Missense_Mutation_p.D405Y|MGAT1_ENST00000427865.2_Missense_Mutation_p.D405Y|MGAT1_ENST00000333055.3_Missense_Mutation_p.D405Y	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	405					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|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)			TTAAGGTCATCCATGACACCC	0.627000													7	38					0.0293803	0.0307457	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29659854	29659854	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:29659854C>G	ENST00000256062.5	-	18	2723	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L	TMTC1_ENST00000539277.1_Silent_p.L858L|TMTC1_ENST00000552618.1_Silent_p.L882L|TMTC1_ENST00000551659.1_Silent_p.L920L|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	858						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTCCTTCAGCAGTTTGCTGT	0.443000													21	89					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389496	140389496	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:140389496A>T	ENST00000532602.1	+	4	3860	c.2827A>T	c.(2827-2829)Agc>Tgc	p.S943C	PCDHA3_ENST00000522353.2_Missense_Mutation_p.S943C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.S941C|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S934C|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S942C|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S930C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S679C|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S943C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S956C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S678C|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S929C|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S1000C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S943C|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S943C|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S679C|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S943C|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S940C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S941C|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGGGAACAGCACGACTGA	0.423000													9	60					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88651967	88651967	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:88651967T>C	ENST00000340700.5	-	7	1980	c.1529A>G	c.(1528-1530)cAg>cGg	p.Q510R	KCNK10_ENST00000319231.5_Missense_Mutation_p.Q515R|KCNK10_ENST00000312350.5_Missense_Mutation_p.Q515R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	510					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						CTCAGCGTGCTGCTGGATACA	0.502000													15	72					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68732298	68732298	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:68732298G>T	ENST00000264012.4	+	16	3029	c.2485G>T	c.(2485-2487)Gac>Tac	p.D829Y	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.D774Y	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	829					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGGGGAGGACGACTAGGCGGC	0.607000													8	18					0.000157383	0.000186893	1	1	0
RAG2	5897	broad.mit.edu	37	11	36614262	36614262	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:36614262C>A	ENST00000311485.3	-	2	1618	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	486					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GTGTAGAGCTCTTGCTATCTC	0.463000									Familial Hemophagocytic Lymphohistiocytosis				19	69					8.28177e-16	1.49416e-15	1	1	0
TIE1	7075	broad.mit.edu	37	1	43778232	43778232	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:43778232C>A	ENST00000372476.3	+	12	1966	c.1887C>A	c.(1885-1887)ggC>ggA	p.G629G	TIE1_ENST00000433781.2_Silent_p.G274G	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	629	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTCCTGGGCCCGGCCTCGC	0.672000													5	36					3.59834e-05	4.4377e-05	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206036933	206036933	+	Splice_Site	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:206036933A>T	ENST00000406610.2	+	12	1827		c.e12-1		PARD3B_ENST00000358768.2_Splice_Site|PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site	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						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)		CTTCTGCCTTAGGATGGTCGT	0.398000													8	51					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148074	34148074	+	Silent	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:34148074A>T	ENST00000346193.3	-	1	2373	c.2322T>A	c.(2320-2322)cgT>cgA	p.R774R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	774										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATATCATTGCACGTTGAATAG	0.388000													23	54					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87552538	87552538	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:87552538C>T	ENST00000521271.1	+	8	771	c.609C>T	c.(607-609)taC>taT	p.Y203Y	CPNE3_ENST00000198765.4_Silent_p.Y203Y	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	203	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CACTGTGTTACGGAGATATGG	0.279000													29	73					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35675904	35675904	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:35675904C>A	ENST00000378357.4	+	3	684	c.580C>A	c.(580-582)Cgc>Agc	p.R194S		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	194	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGAACTGCGCCTGCGCAA	0.726000													3	33					0.115264	0.118982	1	1	0
HOXA1	3198	broad.mit.edu	37	7	27134936	27134936	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:27134936G>T	ENST00000343060.4	-	1	657	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	HOXA1_ENST00000355633.5_Silent_p.I131I	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	199						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGCTGGAGAAGATGTCTCCGA	0.542000													4	59					1	1	1	1	0
DSC3	1825	broad.mit.edu	37	18	28584155	28584155	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:28584155C>G	ENST00000434452.1	-	13	2220	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	DSC3_ENST00000360428.4_Missense_Mutation_p.G689A	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	689	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCCCATTTTCCAAGTATTAC	0.368000													9	54					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586769	15586769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:15586769G>A	ENST00000292609.4	-	2	841	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	PGLYRP2_ENST00000340880.4_Nonsense_Mutation_p.Q238*			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	238					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGATGGCTCTGGGTCTGGGAA	0.612000													13	42					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430285	153430285	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:153430285C>A	ENST00000368723.3	-	3	413	c.303G>T	c.(301-303)caG>caT	p.Q101H	S100A7_ENST00000368722.1_Missense_Mutation_p.Q101H	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	101					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTGGGTCACTGGCTGCCCC	0.522000													22	63					1.96895e-08	2.90563e-08	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56090862	56090862	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:56090862G>C	ENST00000426658.2	-	5	1749	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C	CTCFL_ENST00000539382.1_Missense_Mutation_p.S158C|CTCFL_ENST00000502686.2_Missense_Mutation_p.S101C|CTCFL_ENST00000371196.2_Missense_Mutation_p.S363C|CTCFL_ENST00000433949.2_Missense_Mutation_p.S363C|CTCFL_ENST00000423479.2_Missense_Mutation_p.S363C|CTCFL_ENST00000429804.2_Missense_Mutation_p.S363C|CTCFL_ENST00000422109.2_Missense_Mutation_p.S363C|CTCFL_ENST00000422869.2_Missense_Mutation_p.S363C|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.S363C			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	363					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)			CCCAGTGTGGGATCGGACATG	0.458000													12	143					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105160909	105160909	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:105160909G>T	ENST00000436393.2	+	23	3462	c.3221G>T	c.(3220-3222)aGt>aTt	p.S1074I	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	503					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCAGCATCAGTGGAGACATG	0.493000										HNSCC(12;0.0054)			6	41					3.59834e-05	4.4377e-05	1	1	0
TMEM56	148534	broad.mit.edu	37	1	95639405	95639405	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:95639405C>T	ENST00000370203.4	+	6	724	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.R145C|RP11-57H12.3_ENST00000421762.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	145	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TGGGAATTTTCGCCTGCTTGC	0.363000													4	83					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729413	22729413	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:22729413C>A	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCAAAAAGTCCAAGAGTATA	0.393000													14	119					6.72482e-11	1.09616e-10	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88424010	88424010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:88424010C>A	ENST00000297203.2	-	2	432	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	83										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCACTGCTTCTCCTAGGTGA	0.403000													4	56					0.150653	0.153687	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522436	23522436	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:23522436A>T	ENST00000296682.3	+	7	714	c.532A>T	c.(532-534)Aga>Tga	p.R178*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	178					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGACTGAAAGAAAGATGTA	0.438000										HNSCC(3;0.000094)			26	106					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:140275475C>A	ENST00000458420.3	+	11	1985	c.1795C>A	c.(1795-1797)Cgg>Agg	p.R599R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577000										HNSCC(16;0.037)			7	44					0.0293803	0.0307457	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125627701	125627701	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:125627701C>A	ENST00000373670.1	-	9	2161	c.1561G>T	c.(1561-1563)Gtg>Ttg	p.V521L	RC3H2_ENST00000423239.2_Missense_Mutation_p.V521L|RC3H2_ENST00000357244.2_Missense_Mutation_p.V521L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	521						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACTTTCTTCACGGTCTCCAGA	0.423000													11	69					7.03913e-09	1.06462e-08	1	1	0
TAF6L	10629	broad.mit.edu	37	11	62543326	62543326	+	Missense_Mutation	SNP	C	C	T	rs76769410	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:62543326C>T	ENST00000294168.3	+	2	272	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GCGGAGAGCACGGGCCTGGAG	0.637000													4	45					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167525118	167525118	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:167525118C>A	ENST00000519204.1	+	8	1554	c.1436C>A	c.(1435-1437)gCa>gAa	p.A479E	TENM2_ENST00000518659.1_Missense_Mutation_p.A600E|TENM2_ENST00000403607.2_Missense_Mutation_p.A433E|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.A368E|TENM2_ENST00000545108.1_Missense_Mutation_p.A600E					teneurin transmembrane protein 2																		TTTCTAGGAGCAGACTGTGCT	0.507000													5	22					0.000602214	0.000690842	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35454407	35454407	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:35454407G>A	ENST00000378880.2	-	11	2105	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PAMR1_ENST00000378878.3_Missense_Mutation_p.P443S|PAMR1_ENST00000278360.3_Missense_Mutation_p.P571S|PAMR1_ENST00000532848.1_Missense_Mutation_p.P514S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	554	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGCAGGATGGGGTCATAGTTG	0.537000													6	33					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84124548	84124548	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:84124548C>A	ENST00000343411.3	-	8	1459		c.e8-1		MBTPS1_ENST00000569770.1_Splice_Site	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTCCCACACCTACAAAAGGA	0.368000													16	84					2.48551e-13	4.33005e-13	1	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011295	105011295	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:105011295C>A	ENST00000372582.1	+	11	2458	c.1702C>A	c.(1702-1704)Cat>Aat	p.H568N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.H568N|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.H173N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	568					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						ACCTCGGTGCCATGTTCTGGA	0.443000													19	54					1.01871e-10	1.64728e-10	1	1	0
BACH1	571	broad.mit.edu	37	21	30715097	30715097	+	Silent	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:30715097T>C	ENST00000399921.1	+	5	2397	c.2154T>C	c.(2152-2154)agT>agC	p.S718S	BACH1_ENST00000286800.3_Silent_p.S718S	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	718						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTCGTCAGAGTGGTGGGATCT	0.507000													3	33					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22766941	22766941	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:22766941G>T	ENST00000420258.2	+	1	123	c.60G>T	c.(58-60)gcG>gcT	p.A20A	IL6_ENST00000404625.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401630.3_Intron|IL6_ENST00000406575.1_Intron|IL6_ENST00000407492.1_Intron|IL6_ENST00000401651.1_Intron|IL6_ENST00000258743.5_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	0					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TGCCAGCGGCGGTCGAGCCCT	0.632000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	14					5.18039e-06	6.71573e-06	1	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655030	31655030	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:31655030G>A	ENST00000340345.4	-	1	246	c.221C>T	c.(220-222)cCc>cTc	p.P74L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	74						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCACAGCTGGGAGATTTGCA	0.537000													6	77					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3419185	3419185	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:3419185G>C	ENST00000336727.3	+	9	3582	c.2678G>C	c.(2677-2679)cGg>cCg	p.R893P	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.R245P|RGS12_ENST00000382788.3_Missense_Mutation_p.R893P|RGS12_ENST00000344733.5_Missense_Mutation_p.R893P|RGS12_ENST00000306648.7_Missense_Mutation_p.R291P|RGS12_ENST00000538395.1_Missense_Mutation_p.R235P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552000													3	21					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920531	134920531	+	Splice_Site	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:134920531G>T	ENST00000398015.3	+	12	2716	c.2346_splice	c.e12+1	p.L782_splice	EPHB1_ENST00000493838.1_Splice_Site_p.L343_splice	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	782	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCAGCTCCTTGGTGAGTCCTT	0.532000													8	40					0.00307968	0.00339827	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20649629	20649629	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:20649629C>A	ENST00000428453.1	-	0	2569																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCCGTCCTCTCCCAGCTCACC	0.562000													10	152					3.07112e-06	3.99837e-06	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681780	55681780	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:55681780G>T	ENST00000344514.1	-	1	278	c.279C>A	c.(277-279)ccC>ccA	p.P93P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P93P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCCATAGAAGGGTATTGACT	0.453000													4	81					0.150653	0.153687	1	1	0
TMEM117	84216	broad.mit.edu	37	12	44537359	44537359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:44537359C>T	ENST00000266534.3	+	4	569	c.442C>T	c.(442-444)Cga>Tga	p.R148*	TMEM117_ENST00000551577.1_Nonsense_Mutation_p.R148*|TMEM117_ENST00000536799.1_Intron	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	148						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATGGGCATCCGAAATGAAAG	0.413000													6	68					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231138	21231138	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:21231138C>G	ENST00000233242.1	-	26	8729	c.8602G>C	c.(8602-8604)Gag>Cag	p.E2868Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2868					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)	TTACTAAGCTCCAGTGTATTT	0.398000													34	185					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47177659	47177659	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:47177659G>A	ENST00000319190.5	+	2	710	c.342G>A	c.(340-342)agG>agA	p.R114R	TTC7A_ENST00000536057.1_Silent_p.R114R|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.R80R|TTC7A_ENST00000394850.2_Silent_p.R114R|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	114							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCATGGGAGGCTCTCGGTAA	0.502000													8	31					0	0	1	0	0
B9D2	80776	broad.mit.edu	37	19	41863868	41863868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:41863868G>A	ENST00000243578.3	-	3	367	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	50	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						TCCCCTATCTGCGGGGTGTCC	0.637000													9	29					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495782	6495782	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:6495782G>A	ENST00000264071.2	-	4	1099	c.728C>T	c.(727-729)cCg>cTg	p.P243L	TUBB4A_ENST00000540257.1_Missense_Mutation_p.P243L			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	243					'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										CAGCTGGCCCGGGAAGCGCAG	0.657000													11	57					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376529	113376529	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:113376529C>G	ENST00000316407.4	-	7	4410	c.4000G>C	c.(4000-4002)Gat>Cat	p.D1334H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.D1334H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1334					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAAAGGTCATCTTGGACAGCA	0.458000													15	91					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633460	32633460	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:32633460A>T	ENST00000242310.4	-	1	2207	c.2118T>A	c.(2116-2118)aaT>aaA	p.N706K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	706					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)		TTAAGGGTCCATTTTCCTCAC	0.443000													8	115					0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850410	37850410	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:37850410G>T	ENST00000341016.3	+	1	341	c.318G>T	c.(316-318)ttG>ttT	p.L106F	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	106							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTCGCTTTTTGTTTGATGAGA	0.507000													3	12					0.150653	0.153687	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56572348	56572348	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:56572348A>T	ENST00000323456.5	-	16	3279	c.3155T>A	c.(3154-3156)aTc>aAc	p.I1052N	MTMR4_ENST00000579925.1_Missense_Mutation_p.I995N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1052						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGACGGATGTCCAGCCT	0.512000													17	41					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807856	209807856	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:209807856C>G	ENST00000391911.1	-	5	889	c.500G>C	c.(499-501)aGc>aCc	p.S167T	LAMB3_ENST00000367030.3_Missense_Mutation_p.S167T|LAMB3_ENST00000356082.4_Missense_Mutation_p.S167T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	167	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATCCTGCCAGCTCTGAGGCCG	0.617000													4	70					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70938335	70938335	+	Splice_Site	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:70938335A>T	ENST00000334414.6	-	22	5539		c.e22+1		PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTTAGCCTTACCTGATTCAG	0.418000													5	21					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216531	10216531	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10216531C>A	ENST00000418404.3	-	29	4288	c.4125G>T	c.(4123-4125)tgG>tgT	p.W1375C	MYH13_ENST00000570743.1_Missense_Mutation_p.W1375C|MYH13_ENST00000252172.4_Missense_Mutation_p.W1375C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1375					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTGGTCCTCCACTGGGCAA	0.627000													48	114					1.21353e-23	2.31294e-23	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76893142	76893142	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:76893142A>T	ENST00000409709.3	+	24	3322	c.3050A>T	c.(3049-3051)tAc>tTc	p.Y1017F	MYO7A_ENST00000409893.1_Missense_Mutation_p.Y1017F|MYO7A_ENST00000409619.2_Missense_Mutation_p.Y1006F|MYO7A_ENST00000458637.2_Missense_Mutation_p.Y1017F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1017	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACTCCTACACCCGGCGG	0.612000													6	51					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218760	180218760	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:180218760C>A	ENST00000446023.2	-	3	1962	c.1212G>T	c.(1210-1212)atG>atT	p.M404I	MGAT1_ENST00000393340.3_Missense_Mutation_p.M404I|MGAT1_ENST00000307826.4_Missense_Mutation_p.M404I|MGAT1_ENST00000427865.2_Missense_Mutation_p.M404I|MGAT1_ENST00000333055.3_Missense_Mutation_p.M404I	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	404					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|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)			TAAGGTCATCCATGACACCCA	0.627000													7	38					0.0293803	0.0307457	1	1	0
MOS	4342	broad.mit.edu	37	8	57026209	57026209	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:57026209C>A	ENST00000311923.1	-	1	332	c.333G>T	c.(331-333)agG>agT	p.R111S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	111	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGTGGCGCAGCCTTGCTACGT	0.592000													10	151					7.48243e-07	1.02462e-06	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2418357	2418357	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:2418357G>T	ENST00000449969.1	+	6	908	c.747G>T	c.(745-747)gtG>gtT	p.V249V	PLCH2_ENST00000419816.2_Silent_p.V276V|PLCH2_ENST00000378486.3_Silent_p.V276V|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Silent_p.V276V			O75038	PLCH2_HUMAN	phospholipase C, eta 2	276					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGCGGGTGTGACCCTCGAGA	0.632000													3	4					0.00909568	0.00978792	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102483308	102483308	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:102483308G>C	ENST00000369138.1	+	14	2668	c.2178G>C	c.(2176-2178)caG>caC	p.Q726H	GRIK2_ENST00000413795.1_Missense_Mutation_p.Q726H|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q726H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q677H|GRIK2_ENST00000369137.3_Missense_Mutation_p.Q650H|GRIK2_ENST00000421544.1_Missense_Mutation_p.Q726H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	726					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAGGAATCCAGCGAGTCCTCA	0.443000													9	138					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19638304	19638304	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:19638304T>A	ENST00000338326.3	+	5	1059	c.545T>A	c.(544-546)cTa>cAa	p.L182Q	CHODL_ENST00000543733.1_Silent_p.S238S|CHODL_ENST00000400131.1_Missense_Mutation_p.L182Q|CHODL_ENST00000400128.1_Silent_p.S216S|CHODL_ENST00000299295.2_Silent_p.S257S|CHODL_ENST00000400135.1_Missense_Mutation_p.L182Q|CHODL_ENST00000400127.1_Silent_p.S216S			Q9H9P2	CHODL_HUMAN	chondrolectin	0					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			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)		CAAACCAGTCTACACTGTGGA	0.328000													11	43					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98554099	98554099	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:98554099C>T	ENST00000359863.4	+	42	6362	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S	TRRAP_ENST00000355540.3_Silent_p.S2033S|TRRAP_ENST00000446306.3_Silent_p.S2032S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2051	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGCCTGTCCGTGGATTCTG	0.522000													32	72					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161682008	161682008	+	Splice_Site	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:161682008G>T	ENST00000367959.2	+	5	1095	c.853_splice	c.e5+1	p.G285_splice	FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Splice_Site_p.G128_splice|FCRLA_ENST00000367953.3_Splice_Site_p.G268_splice|FCRLA_ENST00000367957.2_Splice_Site_p.G139_splice|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Splice_Site_p.G173_splice|FCRLA_ENST00000236938.6_Splice_Site_p.G279_splice|FCRLA_ENST00000546024.1_Splice_Site_p.G190_splice|FCRLA_ENST00000540926.1_Splice_Site_p.G268_splice|FCRLA_ENST00000540521.1_Splice_Site_p.G145_splice|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000470841.1_3'UTR	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	262	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CAGAGTGCAGGGTGAGTTCGC	0.522000													9	43					0.00448238	0.00491929	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9364940	9364940	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:9364940G>T	ENST00000378501.2	+	11	961	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PLCB4_ENST00000414679.2_Missense_Mutation_p.D316Y|PLCB4_ENST00000378493.1_Missense_Mutation_p.D316Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D316Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D316Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D316Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	316	PI-PLC X-box.				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						CCAAGAAATGGACCATCCTCT	0.453000													16	77					2.32078e-09	3.59958e-09	1	1	0
GALR1	2587	broad.mit.edu	37	18	74962710	74962710	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:74962710C>G	ENST00000299727.3	+	1	206	c.206C>G	c.(205-207)aCc>aGc	p.T69S		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	69					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCGCGGAGCACCACCAACCTG	0.652000													3	38					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935520	30935520	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:30935520G>A	ENST00000355537.3	+	2	1198	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGTGTGCGGTCAGGTGTT	0.652000													8	121					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40630769	40630769	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:40630769C>T	ENST00000559313.1	-	5	627	c.612G>A	c.(610-612)acG>acA	p.T204T		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGGCCACCTGCGTGGGGGGGC	0.587000											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	67					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752034	247752034	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:247752034C>A	ENST00000320065.1	+	1	373	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTCCTGTGACCGCTATGTGGC	0.527000													14	165					2.23348e-06	2.95208e-06	1	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99969601	99969601	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:99969601G>T	ENST00000298999.3	+	5	2033	c.1730G>T	c.(1729-1731)tGg>tTg	p.W577L	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.W577L|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		GAGGAGAGCTGGGAGTCTATG	0.393000													23	106					5.35356e-11	8.7499e-11	1	1	0
MAATS1	89876	broad.mit.edu	37	3	119459451	119459451	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:119459451A>T	ENST00000273390.5	+	13	1666	c.1589A>T	c.(1588-1590)cAc>cTc	p.H530L		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CGCACCTGCCACGCACTACAA	0.473000													5	41					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448921	104448921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:104448921C>A	ENST00000361820.3	-	2	1861	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	421					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTTCCACCTCCATGCAGTTC	0.468000													11	119					0.000673444	0.00076965	1	1	0
SYNM	23336	broad.mit.edu	37	15	99670914	99670914	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:99670914G>A	ENST00000336292.6	+	5	2466	c.2346G>A	c.(2344-2346)ttG>ttA	p.L782L	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.L782L|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Silent_p.L497L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	783	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						CCTGGGGGTTGGTTAAGGAGG	0.547000													3	21					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747315	158747315	+	Missense_Mutation	SNP	G	G	T	rs145617711		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:158747315G>T	ENST00000339258.1	-	1	110	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CACAGATGGTGAACAGGTATG	0.488000													13	83					0.435327	0.43821	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108684639	108684639	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:108684639A>T	ENST00000218006.2	-	7	1933	c.1642T>A	c.(1642-1644)Ttt>Att	p.F548I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	548	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTGAAGAAAAGGAGAGTCTT	0.433000													34	78					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106229	55106229	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:55106229A>T	ENST00000453777.1	+	4	340	c.170A>T	c.(169-171)gAg>gTg	p.E57V	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.E57V|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	57	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGACCCAGGAGTACCGTCTG	0.587000													15	45					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186266047	186266047	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:186266047C>A	ENST00000445192.2	+	2	85	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	PRG4_ENST00000367483.4_Missense_Mutation_p.L14M|PRG4_ENST00000367484.3_Missense_Mutation_p.L14M|PRG4_ENST00000367485.4_Missense_Mutation_p.L14M|PRG4_ENST00000367486.3_Missense_Mutation_p.L14M	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	14					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						GTTGTTGCTGCTGTCTGTTTT	0.358000													4	45					0.150653	0.153687	1	1	0
DTX1	1840	broad.mit.edu	37	12	113515241	113515241	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:113515241C>A	ENST00000257600.3	+	2	775	c.272C>A	c.(271-273)cCc>cAc	p.P91H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	91	WWE 1.				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						ACCATGCGGCCCGTGCGGCGC	0.692000													11	24					6.42651e-13	1.11003e-12	1	1	0
PRKG1	5592	broad.mit.edu	37	10	54048595	54048595	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:54048595A>T	ENST00000373980.4	+	15	2236	c.1819A>T	c.(1819-1821)Aaa>Taa	p.K607*	PRKG1_ENST00000401604.2_Nonsense_Mutation_p.K592*|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.K310*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.K580*	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	592	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)		TAATTTAATTAAAAAACTATG	0.289000													7	52					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129007	248129007	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:248129007C>A	ENST00000366480.3	+	1	473	c.374C>A	c.(373-375)aCt>aAt	p.T125N	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTGGTGGAACTGAAGCCCTT	0.448000													25	265					9.04412e-07	1.23016e-06	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826731	13826731	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:13826731A>T	ENST00000324750.3	+	1	1189	c.967A>T	c.(967-969)Aga>Tga	p.R323*		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	323					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAGCTTTCCCAGAAGGGATTA	0.522000													5	50					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29628248	29628248	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr22:29628248C>A	ENST00000334018.6	+	8	868	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	EMID1_ENST00000404755.3_Missense_Mutation_p.P227Q|EMID1_ENST00000404820.3_Missense_Mutation_p.P227Q|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	225	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						ATTGCAGGTCCACAGGGCCCC	0.687000													10	32					6.40141e-05	7.73769e-05	1	1	0
AADAT	51166	broad.mit.edu	37	4	170987594	170987594	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:170987594A>G	ENST00000337664.4	-	10	1274	c.998T>C	c.(997-999)aTa>aCa	p.I333T	AADAT_ENST00000353187.2_Missense_Mutation_p.I333T|AADAT_ENST00000515480.1_Missense_Mutation_p.I333T|AADAT_ENST00000509167.1_Missense_Mutation_p.I337T	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	333					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTGCCAGTATTGCATCCTT	0.388000													9	52					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497081	74497081	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:74497081C>A	ENST00000437994.2	+	21	2893	c.2462C>A	c.(2461-2463)cCc>cAc	p.P821H	CD109_ENST00000422508.2_Missense_Mutation_p.P744H|CD109_ENST00000287097.5_Missense_Mutation_p.P821H	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	821						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTCTTTTTCCCATCAGGCCA	0.438000													7	62					0.00198382	0.00219702	1	1	0
KATNAL1	84056	broad.mit.edu	37	13	30784488	30784488	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:30784488C>A	ENST00000380615.3	-	10	1406	c.1239G>T	c.(1237-1239)gaG>gaT	p.E413D	KATNAL1_ENST00000380617.3_Missense_Mutation_p.E413D	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	413						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGAATAGCCCTCAATCTTCT	0.393000													19	64					1.67942e-08	2.49045e-08	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70916970	70916970	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:70916970G>A	ENST00000322773.4	+	51	3523	c.3421G>A	c.(3421-3423)Ggg>Agg	p.G1141R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G763R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1141					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						GCGCACAGGTGGGAATTGAAC	0.537000													11	134					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96127803	96127803	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:96127803G>T	ENST00000453304.1	-	11	2226	c.1878C>A	c.(1876-1878)aaC>aaA	p.N626K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	626	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTGCTGCCTGGTTCTTGAGCA	0.552000													4	76					0.184627	0.187401	1	1	0
RYR2	6262	broad.mit.edu	37	1	237791269	237791269	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:237791269G>T	ENST00000366574.2	+	41	6646	c.6329G>T	c.(6328-6330)gGt>gTt	p.G2110V	RYR2_ENST00000542537.1_Missense_Mutation_p.G2094V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2108V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2110	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)			ACGATAAATGGTGTGTCCGTG	0.547000													5	24					1.024e-07	1.46492e-07	1	1	0
COLEC10	10584	broad.mit.edu	37	8	120103386	120103386	+	Splice_Site	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:120103386A>T	ENST00000332843.2	+	3	261		c.e3-1		COLEC10_ENST00000521788.1_Splice_Site	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)							collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TTTGCTTTTCAGGAATTAAAG	0.373000													4	55					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916469	65916469	+	Silent	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:65916469A>T	ENST00000261892.6	+	2	338	c.51A>T	c.(49-51)acA>acT	p.T17T	SLC24A1_ENST00000399033.4_Silent_p.T17T|SLC24A1_ENST00000537259.1_Silent_p.T17T|SLC24A1_ENST00000339868.6_Silent_p.T17T|SLC24A1_ENST00000544319.2_Silent_p.T17T|SLC24A1_ENST00000546330.1_Silent_p.T17T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	17					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TACTCCGGACAAAGCGGCTTC	0.507000													17	66					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976005	131976005	+	Silent	SNP	T	T	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:131976005T>G	ENST00000356920.5	+	1	124	c.30T>G	c.(28-30)gcT>gcG	p.A10A	POTEE_ENST00000358087.5_Silent_p.A10A|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	10							ATP binding										CCATGCCGGCTGCCTCTTCTG	0.542000													16	80					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102985922	102985922	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:102985922C>A	ENST00000375735.2	+	4	663	c.519C>A	c.(517-519)agC>agA	p.S173R	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.S173R|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S173R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	173	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACACCAAGCGATGAGTTCC	0.318000													4	11					0.00024832	0.000293162	1	1	0
PRMT8	56341	broad.mit.edu	37	12	3659225	3659225	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:3659225G>T	ENST00000382622.3	+	3	775	c.385G>T	c.(385-387)Gct>Tct	p.A129S	PRMT8_ENST00000452611.2_Missense_Mutation_p.A120S|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	129					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.A129T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCATGTTCGCTGCCAAGGC	0.577000													17	56					3.32936e-07	4.62158e-07	1	1	0
HTR3C	170572	broad.mit.edu	37	3	183778023	183778023	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:183778023C>A	ENST00000318351.1	+	9	1261	c.1227C>A	c.(1225-1227)acC>acA	p.T409T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	409						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGACAAAGACCCAGCTAATGG	0.597000													15	85					4.14922e-12	7.02709e-12	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50547228	50547228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr22:50547228C>A	ENST00000262794.5	+	5	781	c.698C>A	c.(697-699)tCa>tAa	p.S233*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.S233*|MOV10L1_ENST00000395843.1_De_novo_Start_OutOfFrame|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.S233*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.S213*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	233					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCAGCCAGTCATGCTATGTC	0.527000													6	65					0.0293803	0.0307457	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200950098	200950098	+	Silent	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:200950098T>A	ENST00000332129.2	-	28	4246	c.3930A>T	c.(3928-3930)acA>acT	p.T1310T	KIF21B_ENST00000461742.2_Silent_p.T1323T|KIF21B_ENST00000360529.5_Silent_p.T1310T|KIF21B_ENST00000422435.2_Silent_p.T1323T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1323					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTTGGACCCTGTGAATAGCA	0.567000													5	39					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193032	48193032	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:48193032A>T	ENST00000330175.4	-	7	1035	c.718T>A	c.(718-720)Tgg>Agg	p.W240R	SAMD14_ENST00000503131.1_Missense_Mutation_p.W240R	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	240										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCCGTGAACCAGGAAAAAGGC	0.627000													18	92					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238247	3238247	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:3238247C>T	ENST00000217939.6	-	5	5633	c.5479G>A	c.(5479-5481)Gga>Aga	p.G1827R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1827						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)				TGGAAGCTTCCTGAGGACTGG	0.493000													7	18					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41711123	41711123	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:41711123A>G	ENST00000373025.3	-	4	395	c.333T>C	c.(331-333)agT>agC	p.S111S	PGC_ENST00000425343.2_Silent_p.S111S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	111					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGCGGGAGTGACTGGCTGCAG	0.657000													10	54					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488251	108488251	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:108488251G>T	ENST00000408999.3	+	20	3868	c.3791G>T	c.(3790-3792)aGt>aTt	p.S1264I	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1264I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1264					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATAGTGTCAGTAGTAGCTCA	0.403000													64	235					1.17253e-29	2.25601e-29	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50953543	50953543	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:50953543C>A	ENST00000374103.4	-	12	1562		c.e12-1		OGDHL_ENST00000432695.1_Splice_Site|OGDHL_ENST00000419399.1_Splice_Site	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like						glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.?(1)		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						GGTAACAGACCTGCAGGAGCA	0.587000													3	34					0.004672	0.00509064	1	1	0
RAB3IL1	5866	broad.mit.edu	37	11	61665821	61665821	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:61665821A>T	ENST00000394836.2	-	10	1235	c.1078T>A	c.(1078-1080)Ttc>Atc	p.F360I	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.F334I	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	360							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						ATCTCCCAGAACATGGGCTCT	0.632000											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	105					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43097983	43097983	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:43097983G>T	ENST00000230419.4	+	4	707	c.486G>T	c.(484-486)tgG>tgT	p.W162C	PTK7_ENST00000481273.1_Missense_Mutation_p.W170C|PTK7_ENST00000352931.2_Missense_Mutation_p.W162C|PTK7_ENST00000349241.2_Missense_Mutation_p.W162C|PTK7_ENST00000345201.2_Missense_Mutation_p.W162C|PTK7_ENST00000471863.1_Missense_Mutation_p.W162C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	162	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCTACCAATGGTTCCGAGATG	0.602000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	86					1.01871e-10	1.64728e-10	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2812532	2812532	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:2812532G>T	ENST00000301740.8	+	11	2552	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	668	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACGTGGCCGCTCACGCTCT	0.612000													5	101					0.014758	0.0157143	1	1	0
SHPK	23729	broad.mit.edu	37	17	3518819	3518819	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:3518819C>A	ENST00000225519.3	-	6	938	c.836G>T	c.(835-837)aGc>aTc	p.S279I		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	279					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AACCGAGGTGCTGATGTTGAG	0.582000													5	25					0.000602214	0.000690842	1	1	0
SH2D5	400745	broad.mit.edu	37	1	21050580	21050580	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:21050580C>A	ENST00000375031.1	-	6	1167	c.543G>T	c.(541-543)gaG>gaT	p.E181D	SH2D5_ENST00000444387.2_Missense_Mutation_p.E265D|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	181										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCACAGGCCTCCCGAGCCG	0.667000													6	28					0.00116845	0.00131558	1	1	0
FLG	2312	broad.mit.edu	37	1	152282088	152282088	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:152282088C>G	ENST00000368799.1	-	3	5309	c.5274G>C	c.(5272-5274)agG>agC	p.R1758S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1758	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)			AACGTCCAGACCTTTCCCCTG	0.582000									Ichthyosis				16	420					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432720	2432720	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:2432720C>T	ENST00000452833.1	-	18	2658	c.2650G>A	c.(2650-2652)Gtg>Atg	p.V884M	TRPM5_ENST00000533060.1_Missense_Mutation_p.V882M|TRPM5_ENST00000528453.1_Missense_Mutation_p.V882M|TRPM5_ENST00000155858.6_Missense_Mutation_p.V882M			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	882						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACGAGCCACACGCTCAGAAAG	0.672000													6	31					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535489	90535489	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:90535489C>A	ENST00000602681.1	+	0	1393																											ACCACACACCCCTGATCCTCT	0.602000													14	232					0.00185496	0.00208084	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50189998	50189998	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:50189998C>A	ENST00000335999.6	-	8	1846	c.1645G>T	c.(1645-1647)Ggc>Tgc	p.G549C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	545	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCACTGGGCCTGGGGACAGC	0.637000													7	18					2.0095e-06	2.66182e-06	1	1	0
FZD2	2535	broad.mit.edu	37	17	42635887	42635887	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:42635887G>A	ENST00000315323.3	+	1	963	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	277					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTACCCAGAGCGGCCTATCA	0.607000													4	60					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087607	92087607	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:92087607G>T	ENST00000298047.6	+	1	2346	c.2329G>T	c.(2329-2331)Gat>Tat	p.D777Y	FAT3_ENST00000541502.1_Missense_Mutation_p.D777Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D627Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D777Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	777	Cadherin 7.				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)				CTTTAATATTGATATGGAGAC	0.388000										TCGA Ovarian(4;0.039)			10	115					0.000442599	0.000514532	1	1	0
GCDH	2639	broad.mit.edu	37	19	13010342	13010342	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:13010342C>T	ENST00000222214.5	+	12	1515	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	GCDH_ENST00000591470.1_Missense_Mutation_p.T435M|SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000422947.2_Missense_Mutation_p.T391M|GCDH_ENST00000457854.1_Intron			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	435					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.T435M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CAGGCGTTCACGGCCAGCAAG	0.547000													3	30					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212557	1212557	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:1212557C>A	ENST00000304460.10	+	4	677	c.621C>A	c.(619-621)gtC>gtA	p.V207V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	207					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATGGAGCGTCCTGTACATGT	0.652000													11	93					6.40141e-05	7.73769e-05	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364397	79364397	+	RNA	SNP	G	G	A	rs3819317	by1000genomes	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:79364397G>A	ENST00000444841.1	-	0	237																											TAGTAGCAGTGGGAGCCTTAG	0.542000													3	12					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8383492	8383492	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:8383492C>T	ENST00000360416.3	-	40	5671	c.5533G>A	c.(5533-5535)Gcc>Acc	p.A1845T	MYH10_ENST00000396239.1_Missense_Mutation_p.A1835T|MYH10_ENST00000379980.4_Missense_Mutation_p.A1830T|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000269243.4_Missense_Mutation_p.A1814T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1814					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAGATGGTGGCCTTGAACTTA	0.542000													8	73					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47047932	47047932	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:47047932T>A	ENST00000450053.3	+	45	7306	c.7127T>A	c.(7126-7128)tTc>tAc	p.F2376Y	NBEAL2_ENST00000383740.2_Missense_Mutation_p.F655Y|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F2192Y	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2376							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AAGGCATTCTTCGCAGAGGTG	0.517000													2	1					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780046	91780046	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:91780046T>C	ENST00000389857.6	-	15	2200	c.2114A>G	c.(2113-2115)gAg>gGg	p.E705G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	705					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCAGGTTCTCTGCGTCCAG	0.607000													5	32					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314846	22314846	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:22314846C>A	ENST00000390434.3	+	0	128																											AGGGACTTGTCCAGCCCAACC	0.552000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					2.0095e-06	2.66182e-06	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77671403	77671403	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:77671403C>T	ENST00000461745.1	+	23	4480	c.3580C>T	c.(3580-3582)Cca>Tca	p.P1194S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P1210S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1194S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1194					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TAATCAACCTCCACAGCCTCC	0.373000													6	51					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552167	41552167	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:41552167C>T	ENST00000396942.1	-	28	3353	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L	ANK1_ENST00000265709.8_Silent_p.L1131L|ANK1_ENST00000347528.4_Silent_p.L1090L|ANK1_ENST00000396945.1_Silent_p.L1090L|ANK1_ENST00000352337.4_Silent_p.L1090L|ANK1_ENST00000379758.2_Silent_p.L1090L|ANK1_ENST00000289734.7_Silent_p.L1090L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1090					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGCCTGTACCAGGGGCACCA	0.627000													5	42					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019048	14019048	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:14019048G>T	ENST00000279593.3	-	2	304	c.95C>A	c.(94-96)cCc>cAc	p.P32H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	32					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)	AATGCTGGGGGGGCTCTTCTG	0.572000													10	32					2.17888e-05	2.72024e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338577	28338577	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:28338577C>T	ENST00000284987.5	-	1	255	c.134G>A	c.(133-135)cGg>cAg	p.R45Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	45					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCCTGCCGCCGGCGGGGCTG	0.766000													3	24					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133807005	133807005	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:133807005G>A	ENST00000395386.2	+	4	581	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PHF20L1_ENST00000395376.1_Silent_p.L94L|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395383.1_Silent_p.L94L|PHF20L1_ENST00000315808.10_Silent_p.L94L|PHF20L1_ENST00000395379.1_Silent_p.L94L|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.L94L|PHF20L1_ENST00000337920.4_Silent_p.L94L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	94	Tudor 2.						nucleic acid binding|zinc ion binding	p.L94L(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGAAGTTCTGGCTCGTTGGA	0.313000													7	39					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26535801	26535801	+	Splice_Site	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:26535801C>G	ENST00000381655.2	+	34	3414	c.3272_splice	c.e34+1	p.A1091_splice	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026_splice	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1051					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATGGAGAGCGTAAGTTTAA	0.473000													7	49					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171403	150171403	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:150171403T>A	ENST00000307271.3	+	4	1560	c.986T>A	c.(985-987)cTg>cAg	p.L329Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	329						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCTTCCTGCTGGTGACACCA	0.413000													27	53					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105591632	105591632	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:105591632C>A	ENST00000258530.3	-	11	1188	c.963G>T	c.(961-963)ttG>ttT	p.L321F	APPL2_ENST00000539978.2_Missense_Mutation_p.L278F|APPL2_ENST00000551662.1_Missense_Mutation_p.L327F|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	321	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGTCCTGGATCAAACCTCCAG	0.562000													10	34					2.74318e-10	4.37757e-10	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22656706	22656706	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:22656706T>C	ENST00000400546.1	+	3	572	c.323T>C	c.(322-324)gTt>gCt	p.V108A	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Missense_Mutation_p.V133A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	108	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTACAGTAGTTTTGGAAATT	0.308000													4	42					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380774	216380774	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:216380774C>A	ENST00000366943.2	-	16	3544		c.e16-1		USH2A_ENST00000307340.3_Splice_Site|USH2A_ENST00000366942.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		TGGAATGGAGCTAAATTACAA	0.418000										HNSCC(13;0.011)			14	52					1.5842e-08	2.355e-08	1	1	0
SLC41A1	254428	broad.mit.edu	37	1	205767855	205767855	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:205767855G>A	ENST00000367137.3	-	6	1800	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	262						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGATGAGGTCGCCCAGGCTGG	0.572000													16	72					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61473588	61473588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:61473588G>T	ENST00000398571.2	-	50	6495	c.6419C>A	c.(6418-6420)tCa>tAa	p.S2140*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2140					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAGTCTTTTGAATGATCACT	0.328000													3	22					0.004672	0.00509064	1	1	0
RRP1B	23076	broad.mit.edu	37	21	45103218	45103218	+	Silent	SNP	C	C	T	rs149845147		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:45103218C>T	ENST00000340648.4	+	9	972	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	285					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.D285D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAAGAGATGACTGTGGAACCT	0.418000													6	25					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679680	38679680	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:38679680C>A	ENST00000267377.2	+	3	1703	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	362					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AGAGCCGTGCCTACAGTGTGG	0.612000													14	60					4.3838e-07	6.07141e-07	1	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493255	62493255	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:62493255G>A	ENST00000369916.3	+	1	690	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	121							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CTGATGACGCGCGCGCTGCTG	0.726000													5	9					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1035322	1035322	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:1035322C>A	ENST00000293894.3	+	3	1392	c.1277C>A	c.(1276-1278)cCg>cAg	p.P426Q		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	426					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CTGGCCCTGCCGCCCGCCCAC	0.731000													3	7					0.150653	0.153687	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66779609	66779609	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:66779609G>T	ENST00000307102.5	+	8	1470	c.939G>T	c.(937-939)ttG>ttT	p.L313F	MAP2K1_ENST00000566326.1_Missense_Mutation_p.L137F	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	313	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTTTTGAGTTGTTGGATTACA	0.403000													5	94					0.184627	0.187401	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57398198	57398198	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:57398198C>A	ENST00000607273.1	+	10	988	c.901C>A	c.(901-903)Ctt>Att	p.L301I	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	301					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAATCACCATCTTTGTCATGG	0.388000													7	94					8.12818e-05	9.74741e-05	1	1	0
MYO1B	4430	broad.mit.edu	37	2	192252060	192252060	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:192252060C>T	ENST00000392318.3	+	17	1912	c.1665C>T	c.(1663-1665)ccC>ccT	p.P555P	MYO1B_ENST00000304164.4_Silent_p.P555P|MYO1B_ENST00000392316.1_Silent_p.P555P|MYO1B_ENST00000339514.4_Silent_p.P555P	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	555	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.P555P(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTTTGTTCCCCGAAGGGAATC	0.512000													29	93					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82906044	82906044	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:82906044T>A	ENST00000306270.7	-	22	3694	c.3145A>T	c.(3145-3147)Aca>Tca	p.T1049S	IBTK_ENST00000503631.1_Missense_Mutation_p.T848S|IBTK_ENST00000510291.1_Missense_Mutation_p.T1034S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1049					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AATCCTGTTGTGAAATCAGGG	0.378000													14	55					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859942	31859942	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr22:31859942G>A	ENST00000397525.1	-	5	533	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R104C|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R104C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	104						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTTTCACACGCTCTCGTGGA	0.502000													5	44					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465881	10465881	+	Silent	SNP	C	C	A	rs144541636	by1000genomes	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:10465881C>A	ENST00000382483.3	-	4	5950	c.5727G>T	c.(5725-5727)ccG>ccT	p.P1909P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1909					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCTGCCTCCGGGGCTTCTG	0.607000													21	198					1.50039e-11	2.48566e-11	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46265136	46265136	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:46265136C>G	ENST00000372004.3	+	12	2222	c.2006C>G	c.(2005-2007)tCt>tGt	p.S669C	NCOA3_ENST00000371997.3_Missense_Mutation_p.S679C|NCOA3_ENST00000341724.6_Missense_Mutation_p.S679C|NCOA3_ENST00000371998.3_Missense_Mutation_p.S669C	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	669	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAGTATCCTCTACATCCAAT	0.473000													6	90					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15480638	15480638	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:15480638G>T	ENST00000382020.4	+	2	396	c.188G>T	c.(187-189)cGc>cTc	p.R63L	TUSC3_ENST00000509380.1_Missense_Mutation_p.R63L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Missense_Mutation_p.R63L|TUSC3_ENST00000503731.1_Missense_Mutation_p.R63L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	63					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGTTCCAGACGCTCAATCTTC	0.373000													13	53					5.50884e-06	7.06619e-06	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163267	163267	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:163267G>T	ENST00000283426.6	+	11	2062	c.2012G>T	c.(2011-2013)cGc>cTc	p.R671L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	671				R -> G (in Ref. 1; BAB67802).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAGACCCTGCGCCCAGGGCTG	0.697000													3	8					0.115264	0.118982	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	114112944	114112944	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:114112944C>G	ENST00000335953.4	+	5	1889	c.1509C>G	c.(1507-1509)agC>agG	p.S503R	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.S503R|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	503					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGCGCAGAGCGCACTGCAGC	0.627000													15	40					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107013	121107013	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:121107013G>T	ENST00000295228.3	+	2	833	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	263					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGTGGTGCCGGTGTTCGTGGA	0.672000													13	56					2.27111e-07	3.16705e-07	1	1	0
DENND1A	57706	broad.mit.edu	37	9	126146185	126146185	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:126146185G>C	ENST00000373624.2	-	21	1786	c.1585C>G	c.(1585-1587)Ccg>Gcg	p.P529A	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.P314A|DENND1A_ENST00000394219.3_Missense_Mutation_p.P540A	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	529						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTCCGATACGGCTGCGGCCTG	0.662000													6	38					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173474428	173474428	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:173474428C>T	ENST00000367714.3	-	26	3690	c.3268G>A	c.(3268-3270)Gca>Aca	p.A1090T	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1090					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGCTCAGATGCTTGGATTATC	0.393000													6	34					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160722938	160722938	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:160722938A>T	ENST00000368043.3	+	7	1016	c.979A>T	c.(979-981)Agg>Tgg	p.R327W	SLAMF7_ENST00000441662.2_Missense_Mutation_p.R196W|SLAMF7_ENST00000458104.2_Missense_Mutation_p.K145M|SLAMF7_ENST00000359331.4_Missense_Mutation_p.K292M|SLAMF7_ENST00000444090.2_Missense_Mutation_p.K161M|SLAMF7_ENST00000368042.3_Missense_Mutation_p.R220W|SLAMF7_ENST00000458602.2_Missense_Mutation_p.R180W	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	327					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGACACACCAAGGCTATTTGC	0.463000													7	57					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7414808	7414808	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:7414808G>A	ENST00000338316.4	+	2	422	c.333G>A	c.(331-333)ttG>ttA	p.L111L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	111					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCTTCTCGTTGGTGATATGGA	0.453000													19	83					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673225	141673225	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:141673225T>A	ENST00000547270.1	-	1	348	c.265A>T	c.(265-267)Aac>Tac	p.N89Y		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	89					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TAGCTGTGGTTCAGTGGTTCA	0.522000													40	108					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250928	21250928	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:21250928T>C	ENST00000298925.5	+	15	1714	c.1561T>C	c.(1561-1563)Tgc>Cgc	p.C521R	NELL1_ENST00000325319.5_Missense_Mutation_p.C436R|NELL1_ENST00000357134.5_Missense_Mutation_p.C493R|NELL1_ENST00000532434.1_Missense_Mutation_p.C493R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	493	EGF-like 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAATGCCATCTGCACCAACAC	0.512000													13	33					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142991330	142991330	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:142991330G>T	ENST00000310447.5	+	5	724	c.483G>T	c.(481-483)gtG>gtT	p.V161V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	161					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CAGATACTGTGGAACACTCCC	0.393000													36	72					1.04594e-18	1.96883e-18	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238672678	238672678	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:238672678G>T	ENST00000244815.5	+	10	2490	c.2250G>T	c.(2248-2250)ttG>ttT	p.L750F	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.L718F|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.L774F|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	774					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACGATGACTTGTCGGCACCAG	0.483000													13	39					7.03913e-09	1.06462e-08	1	1	0
BHLHB9	80823	broad.mit.edu	37	X	102005459	102005459	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:102005459C>T	ENST00000372735.1	+	4	2121	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	BHLHB9_ENST00000457056.1_Silent_p.N512N|BHLHB9_ENST00000448867.1_Silent_p.N512N|BHLHB9_ENST00000361229.4_Silent_p.N512N|BHLHB9_ENST00000447531.1_Silent_p.N512N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	512						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TATTTATTAACATAAAGGAGC	0.353000													14	48					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262321	45262321	+	Missense_Mutation	SNP	G	G	A	rs140758934		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:45262321G>A	ENST00000303230.4	-	8	2432	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	792						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGGGGCAGCGAGGGCTGCGA	0.637000													7	49					0	0	1	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150305	39150305	+	Silent	SNP	A	A	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:39150305A>C	ENST00000391586.1	-	1	80	c.45T>G	c.(43-45)ccT>ccG	p.P15P		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	15	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				TGGTGGTGGCAGGCCCGGTGG	0.552000													21	79					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127251239	127251239	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:127251239T>A	ENST00000341640.2	-	9	1116	c.911A>T	c.(910-912)aAt>aTt	p.N304I	PAX4_ENST00000463946.1_Missense_Mutation_p.N302I|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	317	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTCCAGGGAATTCGGCTGTGG	0.592000													3	4					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857877	110857877	+	Silent	SNP	G	G	T	rs144143608		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:110857877G>T	ENST00000375820.4	-	16	988	c.867C>A	c.(865-867)ccC>ccA	p.P289P	COL4A1_ENST00000543140.1_Silent_p.P289P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	289	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)			CATCTTTTCCGGGTTTGCCCT	0.473000													28	75					6.38683e-12	1.07568e-11	1	1	0
MYH2	4620	broad.mit.edu	37	17	10443934	10443934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10443934G>A	ENST00000245503.5	-	11	1369	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	MYH2_ENST00000532183.1_Nonsense_Mutation_p.Q329*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q329*|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	329	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTTCTTCCTGATCATCGATG	0.408000													12	28					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111156019	111156019	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:111156019T>A	ENST00000262839.2	-	3	1318	c.400A>T	c.(400-402)Acg>Tcg	p.T134S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	134					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGAACTGCGTGTCCATCATC	0.468000													10	33					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018581	5018581	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:5018581C>T	ENST00000307746.4	-	3	335	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	103					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGAACGAGTTCATGATGGTGT	0.498000													28	91					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747168	42747168	+	Missense_Mutation	SNP	A	A	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:42747168A>C	ENST00000372980.3	-	3	2137	c.1265T>G	c.(1264-1266)cTg>cGg	p.L422R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	422					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCGGAGCCAGCTCCCTGGC	0.612000													34	84					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384774	48384774	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:48384774G>A	ENST00000264313.6	+	5	1470	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	SLAIN2_ENST00000512093.1_Missense_Mutation_p.R158Q	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	351						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AATTCACCTCGACCGTCACCT	0.463000													7	64					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39246999	39246999	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:39246999G>A	ENST00000518318.2	+	4	333	c.291G>A	c.(289-291)ctG>ctA	p.L97L	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.L97L|POU6F2_ENST00000559001.1_Silent_p.L89L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	97					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGCCACTTCTGACGGCACAGC	0.537000													5	129					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48655783	48655783	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:48655783G>A	ENST00000258648.2	-	5	531	c.506C>T	c.(505-507)cCa>cTa	p.P169L	MED4_ENST00000378586.1_Missense_Mutation_p.P123L	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	169					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|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			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		ATGTTTACCTGGAACCCAGGT	0.343000													11	31					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183221827	183221827	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:183221827C>T	ENST00000287713.6	-	11	1207	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NMNAT2_ENST00000294868.4_Silent_p.P286P	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	291					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGTCGATGACCGGCTGGGACA	0.567000													10	57					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552489	21552489	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:21552489G>T	ENST00000281523.2	-	4	821	c.303C>A	c.(301-303)ggC>ggA	p.G101G	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	101						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CATGTTTCGTGCCTTTGTAGT	0.448000													8	41					0.00448238	0.00491929	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51165453	51165453	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:51165453G>A	ENST00000293441.1	-	23	6273	c.6255C>T	c.(6253-6255)ccC>ccT	p.P2085P	SHANK1_ENST00000359082.3_Silent_p.P2076P|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Silent_p.P2093P|SHANK1_ENST00000391813.1_Silent_p.P1472P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2085					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTTGTCCGGGGGCAGCGAGA	0.672000													7	22					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890767	70890767	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:70890767C>T	ENST00000264436.3	-	16	2415	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	ADD2_ENST00000407644.2_Silent_p.T657T|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T657T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTCCTCTGCCGTCTGCTCCT	0.572000													17	72					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566488	100566488	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:100566488G>T	ENST00000471714.1	-	19	1736	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P494T|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P543T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	494	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAAATTTTAGGTGTAATTGTT	0.373000													12	143					1.08611e-07	1.53214e-07	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826343	13826343	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:13826343G>T	ENST00000324750.3	+	1	801	c.579G>T	c.(577-579)atG>atT	p.M193I		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	193					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCATCTCCATGTTCTTCGCTA	0.587000													24	486					1.1804e-14	2.09848e-14	1	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89102437	89102437	+	RNA	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:89102437T>C	ENST00000393525.3	+	0	2911																											GGTTAACTAATATAAAGTGTT	0.308000													3	5					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119337	3119337	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:3119337T>A	ENST00000304094.1	+	1	423	c.423T>A	c.(421-423)tgT>tgA	p.C141*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACGGTCTTGTATCTGGCTTA	0.507000													17	80					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490336	141490336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:141490336C>T	ENST00000247883.4	+	1	320	c.175C>T	c.(175-177)Cag>Tag	p.Q59*		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	59					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)					ATTTCTCCTGCAGTGGCTGAT	0.488000													5	67					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637493	248637493	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:248637493C>A	ENST00000359594.2	+	1	867	c.842C>A	c.(841-843)gCc>gAc	p.A281D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ATGGTGTCTGCCTTTTACACC	0.512000													31	276					5.04308e-16	9.18022e-16	1	1	0
GEN1	348654	broad.mit.edu	37	2	17962023	17962023	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:17962023C>A	ENST00000381254.2	+	14	1758	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H	GEN1_ENST00000317402.7_Missense_Mutation_p.P515H|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	515					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCCCTGATCCTACATTACCA	0.368000								Homologous recombination					9	37					1.12685e-05	1.42142e-05	1	1	0
TP63	8626	broad.mit.edu	37	3	189612211	189612211	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:189612211C>A	ENST00000264731.3	+	14	2052	c.1963C>A	c.(1963-1965)Cga>Aga	p.R655R	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000449992.1_Silent_p.R476R|TP63_ENST00000354600.5_Silent_p.R561R|TP63_ENST00000382063.4_Silent_p.R570R|TP63_ENST00000456148.1_Silent_p.R557R|TP63_ENST00000440651.2_Silent_p.R651R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	655	Transactivation inhibition.				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			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)		TTTCCCACCCCGAGATGAGTG	0.552000										HNSCC(45;0.13)			9	48					1.76689e-08	2.6138e-08	1	1	0
ALG13	79868	broad.mit.edu	37	X	110951510	110951510	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:110951510C>T	ENST00000394780.3	+	4	651	c.639C>T	c.(637-639)agC>agT	p.S213S	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.S109S	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	213					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ACTACTGCAGCCAGAAGTCTT	0.483000													6	35					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829314	101829314	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:101829314G>T	ENST00000375001.3	+	40	4225	c.3802G>T	c.(3802-3804)Gca>Tca	p.A1268S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1268	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTGAGGAAAGCAGAGAGATA	0.483000													14	80					1.05317e-09	1.64609e-09	1	1	0
MYH8	4626	broad.mit.edu	37	17	10295923	10295923	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10295923C>A	ENST00000403437.2	-	38	5598	c.5504G>T	c.(5503-5505)cGt>cTt	p.R1835L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1835					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1835H(1)		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						CTCTGCATTACGTTTCTGTTC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				44	104					5.7616e-29	1.10506e-28	1	1	0
NEB	4703	broad.mit.edu	37	2	152536264	152536264	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:152536264C>A	ENST00000427231.2	-	32	3428	c.3226G>T	c.(3226-3228)Gcc>Tcc	p.A1076S	NEB_ENST00000604864.1_Missense_Mutation_p.A1076S|NEB_ENST00000603639.1_Missense_Mutation_p.A1076S|NEB_ENST00000172853.10_Missense_Mutation_p.A1076S|NEB_ENST00000409198.1_Missense_Mutation_p.A1076S|NEB_ENST00000397345.3_Missense_Mutation_p.A1076S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1076					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)		GCAGCTTTGGCAGCTCTGATG	0.483000													13	24					4.36969e-10	6.91868e-10	1	1	0
SNX25	83891	broad.mit.edu	37	4	186188132	186188132	+	Missense_Mutation	SNP	C	C	T	rs143685015	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:186188132C>T	ENST00000504273.1	+	5	716	c.422C>T	c.(421-423)cCg>cTg	p.P141L	SNX25_ENST00000264694.8_Missense_Mutation_p.P141L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	141	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTCTTGAAGCCGGTAGTGGAG	0.418000													4	69					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125659558	125659558	+	Splice_Site	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:125659558C>G	ENST00000373670.1	-	1	831	c.231_splice	c.e1+1	p.Q77_splice	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000423239.2_Splice_Site_p.Q77_splice|RC3H2_ENST00000471874.2_Splice_Site_p.Q77_splice|RC3H2_ENST00000357244.2_Splice_Site_p.Q77_splice|RC3H2_ENST00000335387.5_Splice_Site_p.Q77_splice|RC3H2_ENST00000373665.2_Splice_Site_p.Q77_splice			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	77						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATGCTTACCTGGGCTCCAA	0.423000													9	27					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111044	11111044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:11111044C>A	ENST00000304623.8	-	14	2578	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	CTNND2_ENST00000503622.1_Nonsense_Mutation_p.E460*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.E797*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.E364*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.E706*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	797					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCATTGGCCTCGCCACAGAGT	0.562000													60	282					5.82089e-37	1.12352e-36	1	1	0
GALC	2581	broad.mit.edu	37	14	88454541	88454541	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:88454541C>A	ENST00000261304.2	-	3	381	c.275G>T	c.(274-276)gGt>gTt	p.G92V	GALC_ENST00000393569.2_Missense_Mutation_p.G66V|GALC_ENST00000393568.4_Missense_Mutation_p.G69V|GALC_ENST00000544807.2_Missense_Mutation_p.G36V|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	92					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAGAGGCACCAAAATTCGG	0.368000													6	32					0.00198382	0.00219702	1	1	0
STRBP	55342	broad.mit.edu	37	9	125898355	125898355	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:125898355C>T	ENST00000447404.2	-	15	2042	c.1738G>A	c.(1738-1740)Gcg>Acg	p.A580T	STRBP_ENST00000360998.3_Missense_Mutation_p.A566T|STRBP_ENST00000348403.5_Missense_Mutation_p.A580T			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	580					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTATTTGCCGCATTGGGTCCA	0.393000													10	65					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337405	13337405	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:13337405C>T	ENST00000380622.2	-	1	1113	c.649G>A	c.(649-651)Gat>Aat	p.D217N	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	217					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CCAGACTCATCACTTTCTTCT	0.388000													42	91					0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583392	80583392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:80583392C>T	ENST00000305904.6	+	3	211	c.91C>T	c.(91-93)Cga>Tga	p.R31*	DYNLRB2_ENST00000562982.1_Nonsense_Mutation_p.R60*|DYNLRB2_ENST00000570222.1_3'UTR|RP11-525K10.3_ENST00000568776.1_RNA|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000568035.1_Intron	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	31					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						TATTCCCATCCGAACAACCTT	0.348000													5	25					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12279761	12279761	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:12279761A>G	ENST00000261349.4	-	20	4252	c.4176T>C	c.(4174-4176)ttT>ttC	p.F1392F	LRP6_ENST00000543091.1_Silent_p.F1347F|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1392					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCTGGCAGATAAAGTATACAG	0.443000													17	68					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4955700	4955700	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:4955700G>T	ENST00000404774.3	-	4	495	c.301C>A	c.(301-303)Cac>Aac	p.H101N	MMD2_ENST00000406755.1_Missense_Mutation_p.H101N|MMD2_ENST00000401401.3_Missense_Mutation_p.H101N	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	101						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGTAGACAGTGTTCCACCATC	0.622000													4	17					0.184627	0.187401	1	1	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713634	32713634	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:32713634G>A	ENST00000374940.3	+	3	500	c.398G>A	c.(397-399)tGt>tAt	p.C133Y		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	133	Alpha-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	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)	ACCCTCATCTGTCTTGTGGAC	0.517000													27	100					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070271	9070271	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:9070271G>T	ENST00000397910.4	-	3	17378	c.17175C>A	c.(17173-17175)acC>acA	p.T5725T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5727	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						CAGAAATGGAGGTCCCCACGT	0.512000													14	58					1.5842e-08	2.355e-08	1	1	0
ITGA3	3675	broad.mit.edu	37	17	48156475	48156475	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:48156475G>T	ENST00000320031.8	+	20	2766	c.2436G>T	c.(2434-2436)ggG>ggT	p.G812G	ITGA3_ENST00000007722.7_Silent_p.G812G	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	812					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.G812G(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGGCCTGGGGACCCTGGTCC	0.597000													12	34					0.00136819	0.00153764	1	1	0
MYH8	4626	broad.mit.edu	37	17	10312900	10312900	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10312900C>A	ENST00000403437.2	-	16	1687	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	531	Myosin head-like.				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						AGAAGATGCCCAGTGGCTGAA	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	68					1.06961e-07	1.51945e-07	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7721796	7721796	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:7721796C>G	ENST00000303635.7	+	8	882	c.675C>G	c.(673-675)atC>atG	p.I225M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.I225M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCATGGCATCAAGTGGACCT	0.652000			T	WWTR1	epitheliod hemangioendothelioma								5	39					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755660	91755660	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:91755660G>A	ENST00000389857.6	-	25	4316	c.4230C>T	c.(4228-4230)gcC>gcT	p.A1410A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1410					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTTGACTAAGGCTTTGGCTC	0.542000													19	166					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693315	47693315	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:47693315C>A	ENST00000397708.1	-	8	2437	c.2183G>T	c.(2182-2184)cGt>cTt	p.R728L	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R728L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	728					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTATGCCACGCGTGCGGTT	0.483000													5	28					0.00116845	0.00131558	1	1	0
APOBEC2	10930	broad.mit.edu	37	6	41029082	41029082	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:41029082C>A	ENST00000244669.2	+	2	191	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	49					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCCTGCCAACTTCTTTA	0.493000													12	79					1.5842e-08	2.355e-08	1	1	0
ATP12A	479	broad.mit.edu	37	13	25264487	25264487	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:25264487C>A	ENST00000218548.6	+	6	891	c.558C>A	c.(556-558)gtC>gtA	p.V186V	ATP12A_ENST00000381946.3_Silent_p.V186V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	186					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)	AAGCTCTCGTCATCCGAGATT	0.577000													26	120					6.36457e-07	8.79468e-07	1	1	0
PPP1R1C	151242	broad.mit.edu	37	2	182852548	182852548	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:182852548G>T	ENST00000280295.3	+	2	319	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409702.1_Intron|PPP1R1C_ENST00000409137.3_Intron			Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	27					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATATTAGCTGGGCTTTTGTCG	0.443000													31	76					3.99451e-17	7.33734e-17	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31388223	31388223	+	Missense_Mutation	SNP	G	G	T	rs141139311		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:31388223G>T	ENST00000268296.4	+	21	2733	c.2612G>T	c.(2611-2613)cGt>cTt	p.R871L	ITGAX_ENST00000562522.1_Missense_Mutation_p.R871L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	871					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCTTCCGTGGCGGCGCC	0.617000													5	68					3.59834e-05	4.4377e-05	1	1	0
TNN	63923	broad.mit.edu	37	1	175097287	175097287	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:175097287C>A	ENST00000239462.4	+	14	3278	c.3165C>A	c.(3163-3165)acC>acA	p.T1055T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1055	Fibronectin type-III 9.				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)		ATGTATCCACCACCCTCTCCA	0.547000													4	47					0.00198382	0.00219702	1	1	0
DUSP3	1845	broad.mit.edu	37	17	41852134	41852134	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:41852134C>A	ENST00000226004.3	-	2	361	c.298G>T	c.(298-300)Gct>Tct	p.A100S	DUSP3_ENST00000397937.2_Missense_Mutation_p.A59S	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	100	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		TCAAAGTAAGCGCTGAGGTTG	0.527000													20	73					6.33239e-15	1.13238e-14	1	1	0
TMEM161B	153396	broad.mit.edu	37	5	87501662	87501662	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:87501662C>A	ENST00000296595.6	-	8	893	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	TMEM161B_ENST00000512429.1_Missense_Mutation_p.A246S|TMEM161B_ENST00000509387.1_Missense_Mutation_p.A130S|TMEM161B_ENST00000514135.1_Missense_Mutation_p.A257S|TMEM161B_ENST00000506536.1_Missense_Mutation_p.A75S|TMEM161B_ENST00000511218.1_Missense_Mutation_p.A75S	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	257						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAATTCAGGGCATCCAGATGC	0.338000													9	44					6.40141e-05	7.73769e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113326177	113326177	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:113326177C>G	ENST00000297405.5	-	49	7898	c.7654G>C	c.(7654-7656)Gat>Cat	p.D2552H	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2448H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2512H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2482H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2552	CUB 14.					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						TTGCCATGATCTGCTGACCAC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	78					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62553845	62553845	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:62553845C>T	ENST00000294168.3	+	10	1275	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	358					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GACACAAAGTCTATGGAGCCA	0.512000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	115					0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37285103	37285103	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:37285103G>T	ENST00000542554.1	+	4	293	c.21G>T	c.(19-21)acG>acT	p.T7T	PRRG1_ENST00000491253.1_Intron|TM4SF2_ENST00000465127.1_Silent_p.T7T|PRRG1_ENST00000463135.1_Silent_p.T7T|PRRG1_ENST00000543642.1_Silent_p.T7T|PRRG1_ENST00000378628.4_Silent_p.T7T|PRRG1_ENST00000449135.2_Silent_p.T7T	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	7						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTTCCTCACGGGAGAAAAAG	0.358000													5	19					1.23904e-05	1.55007e-05	1	1	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849593	98849593	+	RNA	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:98849593G>C	ENST00000554295.1	-	0	1330					NR_033801.1																						GATGAAAACAGGGCTGAAAAC	0.488000													9	54					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666069	69666069	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:69666069C>A	ENST00000370598.1	+	7	2170	c.1349C>A	c.(1348-1350)cCt>cAt	p.P450H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	450	TSP type-1 3.				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)				TGCTATAACCCTGAATGTACA	0.517000													3	10					0.004672	0.00509064	1	1	0
UBAP2L	9898	broad.mit.edu	37	1	154229658	154229658	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:154229658C>G	ENST00000428931.1	+	19	2444	c.2277C>G	c.(2275-2277)ggC>ggG	p.G759G	UBAP2L_ENST00000343815.6_Silent_p.G759G|UBAP2L_ENST00000271877.7_Silent_p.G770G|UBAP2L_ENST00000361546.2_Silent_p.G759G	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	759					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAATAGTGGCAGTAGCCTGG	0.552000													5	92					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79386063	79386063	+	Missense_Mutation	SNP	T	T	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:79386063T>G	ENST00000370742.3	-	10	1329	c.1266A>C	c.(1264-1266)aaA>aaC	p.K422N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	422					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATTATAATCTTTAATACCCT	0.294000													6	36					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500070	48500070	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:48500070G>T	ENST00000396577.3	+	2	369	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	SLC12A1_ENST00000558405.1_Missense_Mutation_p.D52Y|SLC12A1_ENST00000561031.1_Missense_Mutation_p.D52Y|SLC12A1_ENST00000330289.6_Missense_Mutation_p.D52Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D52Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	52					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCTTTTGGGGATGAAGCTCA	0.438000													8	31					0.000157383	0.000186893	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686249	108686249	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:108686249C>A	ENST00000312143.7	-	3	854	c.491G>T	c.(490-492)tGg>tTg	p.W164L	CMKLR1_ENST00000552995.1_Missense_Mutation_p.W162L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.W164L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.W164L|CMKLR1_ENST00000397688.2_Missense_Mutation_p.W162L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	164					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGCCAGGACCCAGATGACCAT	0.557000													10	43					1.08611e-07	1.53214e-07	1	1	0
AXIN2	8313	broad.mit.edu	37	17	63530192	63530192	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:63530192T>A	ENST00000307078.5	-	10	2556	c.2243A>T	c.(2242-2244)aAa>aTa	p.K748I	AXIN2_ENST00000375702.5_Missense_Mutation_p.K683I	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	748					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTTGGCTCTTTGTGACTGAA	0.458000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				14	58					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951632	49951632	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:49951632C>A	ENST00000340652.3	+	4	1385	c.829C>A	c.(829-831)Cca>Aca	p.P277T	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	277					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CATTTCAGGTCCAAACTGCTT	0.383000													21	36					3.62473e-10	5.75414e-10	1	1	0
DDX10	1662	broad.mit.edu	37	11	108712055	108712055	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:108712055G>T	ENST00000526794.1	+	15	2131	c.2099G>T	c.(2098-2100)tGg>tTg	p.W700L	DDX10_ENST00000322536.3_Missense_Mutation_p.W700L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	700							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTTCAGCAGTGGCCACAAATG	0.423000			T	NUP98	AML*								22	28					7.45023e-12	1.24786e-11	1	1	0
SIGLEC6	946	broad.mit.edu	37	19	52034212	52034212	+	Splice_Site	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:52034212G>T	ENST00000346477.3	-	3	497	c.427_splice	c.e3-1	p.A143_splice	SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Splice_Site_p.A143_splice|SIGLEC6_ENST00000436458.1_Splice_Site_p.A107_splice|SIGLEC6_ENST00000425629.3_Splice_Site_p.A143_splice|SIGLEC6_ENST00000343300.4_Splice_Site_p.A143_splice	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	143					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGGTCAGGGCTGGTGAGG	0.622000													9	56					0.000274275	0.000321309	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18923705	18923705	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:18923705C>T	ENST00000317977.6	+	15	2233	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	SLC5A10_ENST00000395643.2_Silent_p.L557L|SLC5A10_ENST00000417251.2_Silent_p.L548L|SLC5A10_ENST00000395645.3_Silent_p.L584L|SLC5A10_ENST00000395642.1_Silent_p.L554L|SLC5A10_ENST00000395647.2_Silent_p.L600L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	584					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCATCCTCCTCATGTGTGTCA	0.547000													13	62					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873053	36873053	+	Silent	SNP	T	T	G	rs35367773		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:36873053T>G	ENST00000325718.7	+	10	1561	c.1470T>G	c.(1468-1470)acT>acG	p.T490T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	490					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGAGGGCACTGGGGGCCCAG	0.662000			T	MLL	AL								4	9					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6477774	6477774	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:6477774C>A	ENST00000276893.5	+	6	1294	c.1126C>A	c.(1126-1128)Cca>Aca	p.P376T		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	376					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTGTCTGAATCCACCTTTGGA	0.383000													18	69					3.99206e-14	6.99473e-14	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	31					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756592	15756592	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:15756592T>A	ENST00000221307.7	+	3	310	c.262T>A	c.(262-264)Tgc>Agc	p.C88S	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	88					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGGTGATATGTGCTGCTGGTG	0.562000													10	53					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42618540	42618540	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:42618540C>T	ENST00000282030.5	+	5	4387	c.4091C>T	c.(4090-4092)cCa>cTa	p.P1364L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1364						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGAAGAAGCCAGCCGCAGTT	0.502000									Schinzel-Giedion syndrome				5	36					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570108	53570108	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:53570108C>A	ENST00000025008.5	-	15	2804	c.2281G>T	c.(2281-2283)Gtg>Ttg	p.V761L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.V761L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V761L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	761					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGTGATTCCACCATCATTTCT	0.368000													7	125					0.00198382	0.00219702	1	1	0
FAM66D	100132923	broad.mit.edu	37	8	11985828	11985828	+	RNA	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:11985828G>T	ENST00000434078.2	+	0	608					NR_027425.1																						AACTCCACCCGGTGACGACGA	0.478000													5	52					0.000602214	0.000690842	1	1	0
CDH10	1008	broad.mit.edu	37	5	24491930	24491930	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:24491930G>T	ENST00000264463.4	-	11	2138	c.1631C>A	c.(1630-1632)aCt>aAt	p.T544N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	544	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCTGGCAGTATTATCTAA	0.299000										HNSCC(23;0.051)			4	14					0.00909568	0.00978792	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080215	70080215	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:70080215C>A	ENST00000446444.1	-	1	234	c.226G>T	c.(226-228)Gtt>Ttt	p.V76F	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	76					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGGATAAACTTCAAATTTA	0.363000													14	90					1.15088e-07	1.61975e-07	1	1	0
MOSPD2	158747	broad.mit.edu	37	X	14933851	14933851	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:14933851G>A	ENST00000380492.3	+	12	1239	c.1151G>A	c.(1150-1152)gGt>gAt	p.G384D	MOSPD2_ENST00000482354.1_Missense_Mutation_p.G384D|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	384	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TGTGACCCGGGTGCATCAGTG	0.488000													13	48					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112393243	112393243	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:112393243T>A	ENST00000368662.5	-	11	1209	c.1131A>T	c.(1129-1131)caA>caT	p.Q377H	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	377					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCCAGCCTTCTTGATTCCAGG	0.398000													4	67					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532393	84532393	+	RNA	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:84532393C>T	ENST00000527857.1	+	0	2415					NR_026851.1																						GATCCAGAGACATCTTCAGAC	0.468000													6	53					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838100	92838100	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:92838100C>A	ENST00000394468.2	-	4	882	c.805G>T	c.(805-807)Gat>Tat	p.D269Y	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D257Y|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D257Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D292Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	269	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCAGAACAATCAAATAGGATG	0.433000													10	63					4.68919e-08	6.80436e-08	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53670894	53670894	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:53670894C>T	ENST00000257934.4	+	9	2059	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	ESPL1_ENST00000552462.1_Silent_p.A656A	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	656					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGGGAAGCCCTGCAGCTTC	0.567000													13	42					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487651	139487651	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:139487651G>T	ENST00000367658.2	+	2	787	c.502G>T	c.(502-504)Ggc>Tgc	p.G168C	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	168					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GACAAAGAAGGGCTACGACCT	0.592000													8	73					1.12685e-05	1.42142e-05	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28260203	28260203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:28260203G>A	ENST00000305242.5	-	8	1068	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q18*|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q183*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	326							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGCCAAGCTGATCCTTTTCC	0.378000													6	51					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917827	96917827	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:96917827A>G	ENST00000267584.4	+	10	1062	c.1018A>G	c.(1018-1020)Att>Gtt	p.I340V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	340					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAATTTTAATATTCGATGGGC	0.393000													13	35					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47919879	47919879	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:47919879C>A	ENST00000442455.3	-	4	489	c.146G>T	c.(145-147)gGa>gTa	p.G49V	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.G63V|ZNF630_ENST00000276054.4_5'UTR	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGGGTCCTTTCCATGTTCCAA	0.433000													14	105					1.5739e-10	2.52488e-10	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79412052	79412052	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:79412052T>C	ENST00000370742.3	-	3	295	c.232A>G	c.(232-234)Aca>Gca	p.T78A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	78	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTCCTTCTGTGTTAGTGCAA	0.343000													3	30					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291357	12291357	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:12291357A>T	ENST00000261349.4	-	16	3585	c.3509T>A	c.(3508-3510)aTt>aAt	p.I1170N	LRP6_ENST00000543091.1_Missense_Mutation_p.I1170N|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1170	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTCATGTCAATTTTTTCAAT	0.408000													22	141					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333464	27333464	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:27333464G>T	ENST00000405846.3	-	2	722	c.501C>A	c.(499-501)acC>acA	p.T167T	GPR12_ENST00000381436.2_Silent_p.T167T	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	167						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGCAGATGGAGGTCCCCCAGA	0.597000													8	24					1.12685e-05	1.42142e-05	1	1	0
RNF150	57484	broad.mit.edu	37	4	141888968	141888968	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:141888968G>T	ENST00000306799.3	-	2	1197	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	RNF150_ENST00000420921.2_Missense_Mutation_p.L41M|RNF150_ENST00000379512.2_Missense_Mutation_p.L41M|RNF150_ENST00000515673.1_Missense_Mutation_p.L182M|RNF150_ENST00000507500.1_Missense_Mutation_p.L182M|RNF150_ENST00000515057.1_5'UTR	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	182	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTTTCCAGCAGGCTTACTATC	0.488000													23	85					6.44725e-10	1.01553e-09	1	1	0
MYH6	4624	broad.mit.edu	37	14	23873947	23873947	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:23873947G>T	ENST00000405093.3	-	7	685	c.615C>A	c.(613-615)ggC>ggA	p.G205G	MYH6_ENST00000356287.3_Silent_p.G205G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	205	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)		TGTCCTTCTTGCCACGGTCAC	0.607000													4	64					1.23904e-05	1.55007e-05	1	1	0
NSD1	64324	broad.mit.edu	37	5	176562339	176562339	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:176562339G>T	ENST00000439151.2	+	2	280	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S	NSD1_ENST00000361032.4_Missense_Mutation_p.A79S|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	79					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACAGGATTTGGCCTCCATGAT	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	72					0.000602214	0.000690842	1	1	0
SCN4B	6330	broad.mit.edu	37	11	118011971	118011971	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:118011971G>T	ENST00000324727.4	-	4	690	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SCN4B_ENST00000423160.2_5'UTR|SCN4B_ENST00000529878.1_Missense_Mutation_p.L48M	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	182						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		TTCTTGATCAGCAGGATGAGG	0.552000													19	34					5.3912e-06	6.97415e-06	1	1	0
RP1	6101	broad.mit.edu	37	8	55537994	55537994	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:55537994G>T	ENST00000220676.1	+	4	1700	c.1552G>T	c.(1552-1554)Gtt>Ttt	p.V518F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	518					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)			ACCAGTACTTGTTCAGATCAA	0.348000													17	43					4.14922e-12	7.02709e-12	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964527	166964527	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:166964527G>T	ENST00000061240.2	+	12	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	494	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)		GAAAATAACAGTGTCTGAGAG	0.433000													16	96					2.32078e-09	3.59958e-09	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106681119	106681119	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:106681119T>A	ENST00000526355.1	-	5	1760	c.1292A>T	c.(1291-1293)gAt>gTt	p.D431V	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D431V|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D452V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	431					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CATGAGTTCATCCAACTTGTC	0.458000													28	39					0	0	1	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856239	129856239	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:129856239C>A	ENST00000297819.3	+	3	715	c.664C>A	c.(664-666)Ccg>Acg	p.P222T		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.P222A(1)									TTCAGTAACACCGCCAATGAA	0.428000													51	123					1.86277e-20	3.51728e-20	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39229047	39229047	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:39229047G>T	ENST00000340369.3	-	2	2118	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	XIRP1_ENST00000396251.1_Missense_Mutation_p.F630L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	630	Interaction with CTNNB1 (By similarity).						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)		GTTGGGGCTTGAACATCCAGG	0.592000													18	54					1.33834e-09	2.08643e-09	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84124547	84124547	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:84124547C>A	ENST00000343411.3	-	8	1459	c.963_splice	c.e8-1	p.V322_splice	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	322	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AATTCCCACACCTACAAAAGG	0.368000													17	85					1.45105e-14	2.55722e-14	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165322396	165322396	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:165322396C>A	ENST00000342310.3	-	3	562	c.180G>T	c.(178-180)gtG>gtT	p.V60V	LMX1A_ENST00000294816.2_Silent_p.V60V|LMX1A_ENST00000367893.4_Silent_p.V60V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	60	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGCGCACTGCACGCACTGCT	0.597000													5	39					0.000602214	0.000690842	1	1	0
IL1R2	7850	broad.mit.edu	37	2	102626214	102626214	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:102626214G>T	ENST00000332549.3	+	3	487	c.258G>T	c.(256-258)atG>atT	p.M86I	IL1R2_ENST00000393414.2_Missense_Mutation_p.M86I|IL1R2_ENST00000441002.1_Missense_Mutation_p.M86I	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	86	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AGACACGGATGTGGGCCCAGG	0.597000													37	137					7.04047e-22	1.33352e-21	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35971761	35971761	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:35971761G>A	ENST00000297866.5	+	7	1165	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	367										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						ACAGGACTATGCTCTCTTTTT	0.313000													5	21					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129827702	129827702	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:129827702T>A	ENST00000358825.5	-	3	404	c.173A>T	c.(172-174)tAc>tTc	p.Y58F	PRDM10_ENST00000528746.1_Missense_Mutation_p.Y58F|PRDM10_ENST00000360871.3_Missense_Mutation_p.Y58F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CACTGATGTGTAGGAGGCACC	0.527000													65	108					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328988	3328988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:3328988C>T	ENST00000378398.3	+	10	2312	c.2230C>T	c.(2230-2232)Cga>Tga	p.R744*	PRDM16_ENST00000442529.2_Nonsense_Mutation_p.R743*|PRDM16_ENST00000511072.1_Nonsense_Mutation_p.R744*|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.R743*|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Nonsense_Mutation_p.R744*|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.R743*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.R743*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	743	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		CTTCACGGACCGAGCCCTCGC	0.652000			T	EVI1	"""MDS, AML"""								5	60					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439255	120439255	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:120439255G>A	ENST00000424086.1	+	2	1299	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	TMEM177_ENST00000401466.1_Missense_Mutation_p.G276R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G276R|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	276						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TACACCCAGCGGGAACATCGT	0.577000													12	49					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620487	7620487	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:7620487C>G	ENST00000486284.1	+	8	2168	c.1894C>G	c.(1894-1896)Ctt>Gtt	p.L632V	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.L632V|GRM7_ENST00000389336.4_Missense_Mutation_p.L632V|GRM7_ENST00000403881.1_Missense_Mutation_p.L632V|GRM7_ENST00000357716.4_Missense_Mutation_p.L632V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	632					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)	CAGCTATGTTCTTTTGACGGG	0.498000													15	94					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993829	237993829	+	Splice_Site	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:237993829G>A	ENST00000366574.2	+	103	14972		c.e103-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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)			TTGTTTTCTAGACCAAATGCT	0.408000													15	97					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11603152	11603152	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:11603152A>G	ENST00000262442.3	+	23	5045	c.4977A>G	c.(4975-4977)aaA>aaG	p.K1659K	DNAH9_ENST00000454412.2_Silent_p.K1659K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1659	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)		TGTACAGCAAAGAAGAGGAGT	0.512000													21	36					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81121452	81121452	+	Splice_Site	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:81121452G>C	ENST00000339711.4	+	8	1449	c.219_splice	c.e8+1	p.R73_splice	PRDM8_ENST00000504452.1_Splice_Site_p.R73_splice|PRDM8_ENST00000415738.2_Splice_Site_p.R73_splice	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	73	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TATATCTTTCGGGTAAGTCTC	0.413000													18	112					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49459548	49459548	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:49459548G>T	ENST00000293288.8	+	4	327	c.327G>T	c.(325-327)cgG>cgT	p.R109R	BAX_ENST00000345358.7_Silent_p.R109R|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Silent_p.R109R|BAX_ENST00000539787.1_Silent_p.R109R|BAX_ENST00000354470.3_Silent_p.R60R	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	109					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACTGGGGCCGGGTTGTCGCCC	0.592000													19	50					4.63292e-17	8.48439e-17	1	1	0
FOXN2	3344	broad.mit.edu	37	2	48573635	48573635	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:48573635A>G	ENST00000340553.3	+	3	543	c.282A>G	c.(280-282)ccA>ccG	p.P94P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	94					embryo development|pattern specification process|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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATGATGTGCCATCCTTTGGAC	0.438000													12	81					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575007	4575007	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:4575007C>A	ENST00000301396.4	-	16	3936	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	PELP1_ENST00000269230.7_Missense_Mutation_p.E1003D|PELP1_ENST00000436683.2_Missense_Mutation_p.E869D|PELP1_ENST00000572293.1_Missense_Mutation_p.E1143D|PELP1_ENST00000574876.1_Missense_Mutation_p.E1093D			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1093					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGCTTCGGCCTCTGTCTCTG	0.602000													7	13					0.248553	0.25103	1	1	0
SETD7	80854	broad.mit.edu	37	4	140432853	140432853	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:140432853C>T	ENST00000274031.3	-	8	1701	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	355					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCTTCAGCTCCACCTGGTACC	0.562000													15	53					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356778	97356778	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:97356778G>T	ENST00000389672.5	+	14	2674	c.2636G>T	c.(2635-2637)gGc>gTc	p.G879V	EPHA6_ENST00000502694.1_Missense_Mutation_p.G271V|EPHA6_ENST00000514100.1_Missense_Mutation_p.G271V|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	784	Protein kinase.					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						ATTGCATCAGGCATGAAGTAT	0.408000													9	137					1.33987e-11	2.2258e-11	1	1	0
HTR1E	3354	broad.mit.edu	37	6	87725426	87725426	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:87725426C>A	ENST00000305344.4	+	2	1077	c.374C>A	c.(373-375)aCc>aAc	p.T125N	HTR1E_ENST00000369584.1_Missense_Mutation_p.T125N	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGGGCCATCACCAATGCTATT	0.562000													5	57					0.0215528	0.0227107	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177245376	177245376	+	Missense_Mutation	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:177245376T>C	ENST00000361539.4	+	6	1130	c.818T>C	c.(817-819)gTa>gCa	p.V273A	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		273						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						GAGCGCTTTGTAGCTGCAGCA	0.557000													10	46					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55659200	55659200	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:55659200T>A	ENST00000370830.3	-	3	1407	c.709A>T	c.(709-711)Aca>Tca	p.T237S	BMP5_ENST00000446683.2_Missense_Mutation_p.T237S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	237					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)			GCCTTTCTTGTGTCTAACAAG	0.363000													9	69					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10841060	10841060	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:10841060G>T	ENST00000283027.5	+	3	204	c.185G>T	c.(184-186)gGg>gTg	p.G62V	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.G62V	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	62					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						GTATTGTCTGGGAAAGGCGGT	0.473000													22	84					1.22574e-08	1.83559e-08	1	1	0
SMTNL2	342527	broad.mit.edu	37	17	4496284	4496284	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:4496284C>T	ENST00000389313.4	+	3	615	c.548C>T	c.(547-549)cCt>cTt	p.P183L	SMTNL2_ENST00000338859.4_Missense_Mutation_p.P39L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	183										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCCCCCAGGCCTCGTCCTGTG	0.627000													7	42					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541134	10541134	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:10541134G>T	ENST00000583535.1	-	28	3935	c.3848C>A	c.(3847-3849)aCc>aAc	p.T1283N	MYH3_ENST00000226209.7_Missense_Mutation_p.T1283N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1283					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCAGCCTCGGTCTGCAAACG	0.577000													10	24					0.0581538	0.0605436	1	1	0
CSH2	1443	broad.mit.edu	37	17	61949937	61949937	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:61949937C>A	ENST00000392886.2	-	4	607	c.456_splice	c.e4+1	p.G152_splice	CSH2_ENST00000560142.1_Splice_Site_p.G95_splice|CSH2_ENST00000336844.5_Silent_p.G152G|CSH2_ENST00000345366.7_Intron	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	152					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCACCCTCACCCCCATCAGCG	0.577000													11	74					0.00010058	0.000120379	1	1	0
ASB2	51676	broad.mit.edu	37	14	94404047	94404047	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr14:94404047C>A	ENST00000555019.1	-	9	2198	c.1768G>T	c.(1768-1770)Gca>Tca	p.A590S	ASB2_ENST00000315988.4_Missense_Mutation_p.A542S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	542					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCCCTACCTGCCTTCTCCTTG	0.597000													5	20					1.23904e-05	1.55007e-05	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11630163	11630163	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:11630163G>T	ENST00000423059.3	-	4	1628	c.1377C>A	c.(1375-1377)atC>atA	p.I459I		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	459	TSP type-1 4.					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)		CTCGGGTCTGGATGCCCCCTC	0.552000										HNSCC(18;0.044)			6	26					3.59834e-05	4.4377e-05	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4117986	4117986	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:4117986C>A	ENST00000324333.10	-	3	1220	c.1027G>T	c.(1027-1029)Ggc>Tgc	p.G343C	GLIS3_ENST00000381971.3_Missense_Mutation_p.G498C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	343					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CAATGCTTGCCCCCGATGCCG	0.682000													12	48					3.07112e-06	3.99837e-06	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46657374	46657374	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:46657374G>T	ENST00000544460.1	+	1	1763	c.1509G>T	c.(1507-1509)tgG>tgT	p.W503C	TDRD6_ENST00000316081.6_Missense_Mutation_p.W503C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	503					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGAGTTTTGGATTAGGTTGA	0.408000													20	103					4.35082e-09	6.69695e-09	1	1	0
TAAR6	319100	broad.mit.edu	37	6	132891796	132891796	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:132891796T>A	ENST00000275198.1	+	1	336	c.336T>A	c.(334-336)gaT>gaA	p.D112E		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	112						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCTGCTGTGATGTGGCATTTT	0.498000													31	171					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3580618	3580618	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:3580618G>C	ENST00000571025.1	+	10	1029	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	CLUAP1_ENST00000341633.5_Missense_Mutation_p.E327Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.E86Q|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E327Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E161Q|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E161Q			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	327						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATCCGACAGTGAGTTGGAAGA	0.542000													3	19					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158651406	158651406	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:158651406G>C	ENST00000368148.3	-	4	622	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	SPTA1_ENST00000368147.3_Missense_Mutation_p.L148V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	148					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)					CCCTTCTCCAGGGTCAGCTCT	0.542000													23	128					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703931	47703931	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:47703931T>A	ENST00000254480.5	-	20	2170	c.2051A>T	c.(2050-2052)cAg>cTg	p.Q684L	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	684					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGACAGGCTGGTAGGCCAA	0.507000													7	25					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455876	234455876	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:234455876G>T	ENST00000366618.3	+	7	1325	c.1180G>T	c.(1180-1182)Gtt>Ttt	p.V394F	SLC35F3_ENST00000366617.3_Missense_Mutation_p.V325F	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	325					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGAATTGCCGTTACATATCC	0.403000													10	60					2.52707e-12	4.31589e-12	1	1	0
MLXIP	22877	broad.mit.edu	37	12	122611883	122611883	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:122611883C>A	ENST00000319080.6	+	2	626	c.494C>A	c.(493-495)gCc>gAc	p.A165D				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	165	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCAATAATGCCATCTGGCGG	0.587000													3	6					2.56e-06	3.36173e-06	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327564	57327564	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:57327564G>T	ENST00000326441.9	-	10	2609	c.2246C>A	c.(2245-2247)gCg>gAg	p.A749E	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A623E|PEG3_ENST00000423103.2_Missense_Mutation_p.A749E|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A625E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	749					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)		AATGGTGAACGCCTTTTCGTC	0.398000													25	131					4.7796e-09	7.3015e-09	1	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812667	31812667	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:31812667G>C	ENST00000334067.3	+	1	71	c.22G>C	c.(22-24)Gga>Cga	p.G8R		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	8						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGCAGCTCTGGAAACTTCTC	0.443000													6	51					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105644980	105644980	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:105644980G>T	ENST00000542731.1	+	8	1007	c.899G>T	c.(898-900)cGa>cTa	p.R300L	CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.R212L|CDHR3_ENST00000317716.9_Missense_Mutation_p.R300L|CDHR3_ENST00000343407.5_Missense_Mutation_p.R17L			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGGATAGACCGAGATGCAGGT	0.453000													11	29					1.61879e-10	2.59007e-10	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909103	124909103	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:124909103G>A	ENST00000339992.3	+	2	543	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	96					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAAGGGCAGCGGAGGCTCGGG	0.652000													6	39					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176079	159176079	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:159176079C>A	ENST00000537147.1	+	3	1693	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	DARC_ENST00000368122.2_Missense_Mutation_p.L284M|DARC_ENST00000368121.2_Missense_Mutation_p.L286M			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	284					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCTCTGGACCTGCTGCTGAA	0.587000													22	183					9.95505e-16	1.79073e-15	1	1	0
MYL2	4633	broad.mit.edu	37	12	111351120	111351120	+	Missense_Mutation	SNP	G	G	T	rs121913658		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:111351120G>T	ENST00000228841.8	-	5	330	c.283C>A	c.(283-285)Cct>Act	p.P95T	MYL2_ENST00000548438.1_Missense_Mutation_p.P81T	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	95	EF-hand 2.		P -> A (in MVC2).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTTTCCTCAGGGTCCGCTCCT	0.582000													11	48					4.68919e-08	6.80436e-08	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067331	190067331	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:190067331G>A	ENST00000367462.3	-	8	2349	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.I604I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		706						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CACGGTCTCTGATCTCTAGTA	0.483000													15	58					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165875191	165875191	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:165875191G>T	ENST00000367879.4	+	6	934	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	211					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CATCCCTAGAGGTGCAGATAA	0.463000													8	42					1.12685e-05	1.42142e-05	1	1	0
FGD6	55785	broad.mit.edu	37	12	95479678	95479678	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:95479678C>T	ENST00000343958.4	-	19	4208	c.3985G>A	c.(3985-3987)Gca>Aca	p.A1329T	FGD6_ENST00000546711.1_Missense_Mutation_p.A1329T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1329					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGTGTTTGCTGATACCTAG	0.338000													10	72					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018044	161018044	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:161018044G>A	ENST00000368013.3	-	12	3087	c.2767C>T	c.(2767-2769)Cgt>Tgt	p.R923C	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R712C|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R746C	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	923					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAAGCTAGACGCATGCCCACG	0.617000													6	75					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202280	30202280	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr22:30202280C>A	ENST00000397771.2	-	13	1263		c.e13-1		ASCC2_ENST00000542393.1_Splice_Site|ASCC2_ENST00000307790.3_Splice_Site|ASCC2_ENST00000478812.1_Splice_Site			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCGGAGGAACCTGCAGGCAGA	0.567000													7	39					2.7689e-08	4.07624e-08	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55220839	55220839	+	RNA	SNP	T	T	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:55220839T>C	ENST00000413439.1	+	0	828																											GAAAACCCACTCTCTCAGCCC	0.537000													8	16					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502271	90502271	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:90502271G>T	ENST00000325643.5	+	4	2935	c.2869G>T	c.(2869-2871)Ggg>Tgg	p.G957W		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAGGGCAGGGGGTGTTCTCA	0.617000													6	44					0.00116845	0.00131558	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907867	164907867	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:164907867G>T	ENST00000475390.1	-	2	1195	c.752C>A	c.(751-753)cCt>cAt	p.P251H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P251H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	251	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGCAGTATAAGGAATGCGTTC	0.483000										HNSCC(40;0.11)			7	76					2.0095e-06	2.66182e-06	1	1	0
EEF1E1	9521	broad.mit.edu	37	6	8097506	8097506	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:8097506C>G	ENST00000379715.5	-	2	338	c.282G>C	c.(280-282)ctG>ctC	p.L94L	EEF1E1-MUTED_ENST00000397456.2_Silent_p.L94L|EEF1E1_ENST00000429723.2_Silent_p.L94L|EEF1E1_ENST00000507463.1_Silent_p.L94L	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	94	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ATACCTTCAACAGTGTGTGGA	0.423000													27	109					0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52234781	52234781	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:52234781G>C	ENST00000298125.5	+	2	367	c.187G>C	c.(187-189)Gta>Cta	p.V63L		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	63							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TTGGCCAAGCGTATACCATGC	0.398000													10	41					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66112376	66112376	+	Silent	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:66112376A>T	ENST00000503581.1	-	7	1716	c.1179T>A	c.(1177-1179)ccT>ccA	p.P393P	EYS_ENST00000370621.3_Silent_p.P393P|EYS_ENST00000342421.5_Silent_p.P393P|EYS_ENST00000393380.2_Silent_p.P393P|EYS_ENST00000370616.2_Silent_p.P393P|EYS_ENST00000370618.3_Silent_p.P393P	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	393	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			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						TATACCTGCAAGGATAATCTT	0.279000													5	47					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976006	131976006	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:131976006G>T	ENST00000356920.5	+	1	125	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S	POTEE_ENST00000358087.5_Missense_Mutation_p.A11S|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	11							ATP binding										CATGCCGGCTGCCTCTTCTGT	0.542000													17	84					3.32936e-07	4.62158e-07	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912751	77912751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:77912751G>T	ENST00000321110.1	-	2	1462	c.1167C>A	c.(1165-1167)tgC>tgA	p.C389*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	389							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCAGGCTGATGCACTGAGTGA	0.493000													14	42					1.5739e-10	2.52488e-10	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456384	5456384	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:5456384C>T	ENST00000222033.4	+	1	959	c.882C>T	c.(880-882)tgC>tgT	p.C294C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	294						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTCTACCTGCCAGAAGGCCC	0.622000													4	35					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100466340	100466340	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:100466340C>A	ENST00000200457.4	+	4	947	c.587C>A	c.(586-588)cCg>cAg	p.P196Q		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	196					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCCCCTCCCGGGCCCCCAC	0.706000													3	17					1	1	1	1	0
APBB3	10307	broad.mit.edu	37	5	139938303	139938303	+	Missense_Mutation	SNP	G	G	A	rs148938296	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:139938303G>A	ENST00000357560.4	-	13	1771	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	APBB3_ENST00000508496.2_Missense_Mutation_p.S220F|APBB3_ENST00000412920.3_Missense_Mutation_p.S441F|APBB3_ENST00000354402.5_Missense_Mutation_p.S450F|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.S448F	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	443						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCCTGGGGAATCCATGGA	0.652000													5	39					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971618	34971618	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:34971618C>A	ENST00000242315.3	+	2	405	c.323C>A	c.(322-324)aCc>aAc	p.T108N	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.T108N	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	108							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ATCCGCCCCACCCGGAAGCTG	0.602000													26	124					1.77063e-15	3.17565e-15	1	1	0
MB21D2	151963	broad.mit.edu	37	3	192516574	192516574	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:192516574C>A	ENST00000392452.2	-	2	1397	c.1077G>T	c.(1075-1077)ctG>ctT	p.L359L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	359										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CGATGAGGCCCAGCAAAAAGT	0.517000													4	49					0.00909568	0.00978792	1	1	0
CCDC151	115948	broad.mit.edu	37	19	11534670	11534670	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:11534670G>A	ENST00000356392.4	-	8	1079	c.992C>T	c.(991-993)tCc>tTc	p.S331F	CCDC151_ENST00000586836.1_Missense_Mutation_p.S140F|CCDC151_ENST00000545100.1_Missense_Mutation_p.S277F|CCDC151_ENST00000591179.1_Missense_Mutation_p.S271F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	331										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTGTCGTCGGACTGTAGCAG	0.637000													6	106					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123178442	123178442	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:123178442G>T	ENST00000264501.4	+	41	6784	c.6411G>T	c.(6409-6411)aaG>aaT	p.K2137N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K2137N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.K2137N			Q2LD37	K1109_HUMAN	KIAA1109	2137					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAACTTTGAAGAAAGGTTTAG	0.393000													24	90					7.92952e-12	1.32086e-11	1	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170015	20170015	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:20170015C>A	ENST00000338912.5	-	0	256																											TATGGTGACTCTGCCCTGGAA	0.547000													16	134					1.52009e-12	2.61817e-12	1	1	0
KCNJ9	3765	broad.mit.edu	37	1	160054150	160054150	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:160054150C>T	ENST00000368088.3	+	2	572	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGTGGCCGCCTTCCTCTTCT	0.672000													4	33					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097286	175097286	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:175097286C>A	ENST00000239462.4	+	14	3277	c.3164C>A	c.(3163-3165)aCc>aAc	p.T1055N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1055	Fibronectin type-III 9.				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)		AATGTATCCACCACCCTCTCC	0.547000													4	47					0.00198382	0.00219702	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056435	26056435	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:26056435C>G	ENST00000343677.2	-	1	264	c.222G>C	c.(220-222)gaG>gaC	p.E74D		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	74	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGTTGTTTTTCTCCACATCAT	0.537000													9	100					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124170	217124170	+	Silent	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:217124170G>A	ENST00000273067.4	-	4	2864	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	366						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CTGAGGGGTGGCCGGCAGCCT	0.642000													11	29					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74043344	74043344	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:74043344A>T	ENST00000569673.1	-	2	1332	c.128T>A	c.(127-129)cTc>cAc	p.L43H	C15orf59_ENST00000379822.4_Missense_Mutation_p.L43H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	43										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCTCCTTGAGCTCGCGAAG	0.602000													20	74					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107698367	107698367	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:107698367C>T	ENST00000388781.3	-	24	3372	c.3289G>A	c.(3289-3291)Ggc>Agc	p.G1097S	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1097S|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1097S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1097	Laminin EGF-like 12.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGACACTGGCCTGTAAGCTGT	0.413000													10	30					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166626	36166626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:36166626C>A	ENST00000303965.4	-	11	2572	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	695	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTGTTGGATTCATTGAACCAA	0.433000													9	65					0.000274275	0.000321309	1	1	0
RNF11	26994	broad.mit.edu	37	1	51735789	51735789	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:51735789G>T	ENST00000242719.3	+	2	771	c.285G>T	c.(283-285)aaG>aaT	p.K95N	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	95					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						CAGAAAAAAAGATCCGGGAGT	0.338000													6	47					0.00116845	0.00131558	1	1	0
EBF3	253738	broad.mit.edu	37	10	131640512	131640512	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:131640512T>A	ENST00000368648.3	-	13	1285	c.1213A>T	c.(1213-1215)Agc>Tgc	p.S405C	EBF3_ENST00000355311.5_Missense_Mutation_p.S414C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	414					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGGGGAACGCTGTACAGCGCC	0.647000													20	92					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72086608	72086608	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:72086608T>A	ENST00000265381.4	-	4	1522	c.1300A>T	c.(1300-1302)Aga>Tga	p.R434*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	434	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AAGCTTTTTCTTGACTGTAAT	0.333000													7	33					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													4	69					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232596679	232596679	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:232596679C>T	ENST00000366630.1	-	9	3407	c.3049G>A	c.(3049-3051)Gtg>Atg	p.V1017M	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1017M|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V91M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1017	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCACCTTCACAGTCACAGAA	0.597000													10	29					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166153579	166153579	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:166153579C>A	ENST00000357398.3	+	3	610	c.320C>A	c.(319-321)cCt>cAt	p.P107H	SCN2A_ENST00000283256.6_Missense_Mutation_p.P107H|SCN2A_ENST00000375427.2_Missense_Mutation_p.P107H|SCN2A_ENST00000375437.2_Missense_Mutation_p.P107H			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	107					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)	AGTGCCACCCCTGCCCTTTAC	0.299000													6	18					0.00198382	0.00219702	1	1	0
PARP8	79668	broad.mit.edu	37	5	50055520	50055520	+	Silent	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:50055520A>G	ENST00000281631.5	+	4	386	c.228A>G	c.(226-228)ctA>ctG	p.L76L	PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514067.2_Silent_p.L76L|PARP8_ENST00000505697.2_Silent_p.L76L|PARP8_ENST00000503750.2_Silent_p.L76L|PARP8_ENST00000505554.1_Silent_p.L55L|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	76						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAGATGTGCTAGTTACTACAG	0.254000													8	53					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233349	43233349	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:43233349C>T	ENST00000327495.5	-	5	1353	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	PSG3_ENST00000595140.1_Missense_Mutation_p.G390E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	390	Ig-like C2-type 3.				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)				AGCATAGAGCCCGCTATGCTT	0.463000													39	165					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260132	30260132	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr18:30260132C>A	ENST00000359358.4	-	7	2026	c.1588_splice	c.e7+1	p.G530_splice		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	530						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AAAAAAAGACCTTTCAAATGA	0.353000													4	36					0.000602214	0.000690842	1	1	0
IRGC	56269	broad.mit.edu	37	19	44222735	44222735	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:44222735G>T	ENST00000244314.5	+	2	224	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	9						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GTTGCCCGTGGTGCCTGGGGA	0.627000													20	83					4.35082e-09	6.69695e-09	1	1	0
FLNC	2318	broad.mit.edu	37	7	128489246	128489246	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:128489246G>A	ENST00000325888.8	+	29	5200	c.4939G>A	c.(4939-4941)Ggc>Agc	p.G1647S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1647S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1647					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCCATTGGAGGCCATGGCCT	0.662000													12	22					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96469928	96469928	+	Silent	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:96469928G>T	ENST00000453304.1	-	1	429	c.81C>A	c.(79-81)gcC>gcA	p.A27A	UNC5C_ENST00000504962.1_Silent_p.A27A|UNC5C_ENST00000506749.1_Silent_p.A27A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	27					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAGGGCCAGGGCAGGTAGCA	0.662000													5	44					0.0215528	0.0227107	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65403218	65403218	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:65403218G>T	ENST00000355703.3	+	32	5942	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1801						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGCACTGTGGGGTGGCCCCA	0.677000													3	3					6.4e-05	7.73769e-05	1	1	0
MANBA	4126	broad.mit.edu	37	4	103560925	103560925	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:103560925C>A	ENST00000226578.4	-	14	2058	c.1959G>T	c.(1957-1959)ggG>ggT	p.G653G	MANBA_ENST00000505239.1_Silent_p.G596G	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	653					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AATAAAGTGCCCCCATCGTGT	0.502000													10	57					1.58986e-06	2.14332e-06	1	1	0
EDARADD	128178	broad.mit.edu	37	1	236645820	236645820	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:236645820G>T	ENST00000359362.5	+	6	703	c.489G>T	c.(487-489)caG>caT	p.Q163H	EDARADD_ENST00000334232.4_Missense_Mutation_p.Q173H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	173	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAACAGTCAGAGGACGGTGG	0.602000													13	58					3.27435e-08	4.78559e-08	1	1	0
MORC1	27136	broad.mit.edu	37	3	108812341	108812341	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:108812341G>C	ENST00000232603.5	-	8	713	c.631C>G	c.(631-633)Cca>Gca	p.P211A	MORC1_ENST00000483760.1_Missense_Mutation_p.P211A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	211					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						TCCAACTCTGGTTCTCCATTA	0.363000													5	48					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83838116	83838116	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:83838116C>A	ENST00000302236.5	+	5	802	c.751C>A	c.(751-753)Ccc>Acc	p.P251T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	251							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAAATGCCAACCCAGTCCAGG	0.328000													5	109					0.0381472	0.039783	1	1	0
RYR3	6263	broad.mit.edu	37	15	33916007	33916007	+	Splice_Site	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:33916007G>C	ENST00000389232.4	+	20	2427		c.e20-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAATGACAGAGTACGTTTC	0.423000													3	40					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49254840	49254840	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:49254840G>T	ENST00000332408.4	-	1	801	c.373C>A	c.(373-375)Cca>Aca	p.P125T		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	125	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTGGAACCTGGGTCCCGGCTT	0.602000													6	30					8.12818e-05	9.74741e-05	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158747400	158747400	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:158747400A>T	ENST00000339258.1	-	1	25	c.26T>A	c.(25-27)cTg>cAg	p.L9Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAATTCAGCCAGGCTTGAATG	0.458000													14	40					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597662	136597662	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:136597662C>G	ENST00000371872.4	-	3	650	c.393G>C	c.(391-393)cgG>cgC	p.R131R	SARDH_ENST00000371867.1_Silent_p.R42R|SARDH_ENST00000298628.5_Silent_p.R131R|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Silent_p.R131R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	131					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCTCACCACCCGCCGAGTGT	0.687000													10	81					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849910	72849910	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:72849910G>T	ENST00000344575.3	+	1	1802	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	525					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GATCACCAGCGGCGTCTGGGT	0.667000													16	31					6.31663e-08	9.0578e-08	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541093	55541093	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:55541093C>A	ENST00000361760.1	+	1	180	c.180C>A	c.(178-180)atC>atA	p.I60I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCATACAATCATGTGCTTTT	0.398000													36	102					1.26612e-14	2.24431e-14	1	1	0
GRXCR2	643226	broad.mit.edu	37	5	145239355	145239355	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:145239355G>T	ENST00000377976.1	-	3	687	c.688C>A	c.(688-690)Ctg>Atg	p.L230M		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	230										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGCACCTCAGGGCCCGATAG	0.552000													6	56					0.00116845	0.00131558	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11603089	11603089	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:11603089G>T	ENST00000262442.3	+	23	4982	c.4914G>T	c.(4912-4914)aaG>aaT	p.K1638N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1638N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1638	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	p.K1638K(1)|p.M1639fs*5(1)		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)		ACATGGCCAAGATGCGATTCC	0.478000													17	35					4.7546e-09	7.28161e-09	1	1	0
TBL1X	6907	broad.mit.edu	37	X	9673087	9673087	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:9673087C>T	ENST00000217964.7	+	13	1809	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I	TBL1X_ENST00000536365.1_Missense_Mutation_p.T339I|TBL1X_ENST00000407597.2_Missense_Mutation_p.T390I|TBL1X_ENST00000380961.1_Missense_Mutation_p.T339I|TBL1X_ENST00000424279.1_Missense_Mutation_p.T339I	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	390				T -> A (in Ref. 2; BAF83651).	canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TCCTGTAGCACAGACATGTGT	0.547000													15	38					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712754	43712754	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:43712754C>A	ENST00000263801.3	-	21	4667	c.4415G>T	c.(4414-4416)gGc>gTc	p.G1472V	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1477V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1427V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1477V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1472					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATCAGAAGGGCCAGCAGCAGC	0.537000								Other conserved DNA damage response genes					10	62					3.86212e-05	4.72469e-05	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													27	93					2.79863e-10	4.45437e-10	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169230142	169230142	+	Missense_Mutation	SNP	G	G	A	rs150884555		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:169230142G>A	ENST00000256935.8	+	26	2715	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I	DOCK2_ENST00000520908.1_Missense_Mutation_p.V371I|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	879					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAACACCAGGTCCTGGAGAG	0.498000													5	50					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021574	16021574	+	Splice_Site	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:16021574C>A	ENST00000350896.3	-	5	1014	c.817_splice	c.e5+1	p.G273_splice	MSR1_ENST00000262101.5_Splice_Site_p.G273_splice|MSR1_ENST00000445506.2_Splice_Site_p.G291_splice|MSR1_ENST00000355282.2_Splice_Site_p.G273_splice|MSR1_ENST00000536385.1_Splice_Site_p.G47_splice|MSR1_ENST00000381998.4_Splice_Site_p.G273_splice	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	273	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GACATTTTACCTTGAATTAAA	0.284000													4	33					0.00909568	0.00978792	1	1	0
OLFML2A	169611	broad.mit.edu	37	9	127549447	127549447	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:127549447C>A	ENST00000373580.3	+	2	284	c.284C>A	c.(283-285)tCc>tAc	p.S95Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	95										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCACCTCCCTCCTCTCTCAAC	0.607000													4	30					0.150653	0.153687	1	1	0
SELP	6403	broad.mit.edu	37	1	169578913	169578913	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:169578913G>C	ENST00000263686.6	-	8	1199	c.1162C>G	c.(1162-1164)Ccg>Gcg	p.P388A	SELP_ENST00000367792.2_Missense_Mutation_p.P326A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.P326A|SELP_ENST00000367786.2_Missense_Mutation_p.P326A|SELP_ENST00000367794.2_Missense_Mutation_p.P326A|SELP_ENST00000458599.2_Missense_Mutation_p.P326A|SELP_ENST00000367793.2_Missense_Mutation_p.P326A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	388	Sushi 4.				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)	CTCTCCAGCGGCTCACACGAA	0.473000													5	45					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74617299	74617299	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:74617299C>T	ENST00000340360.6	-	10	1295	c.964G>A	c.(964-966)Gat>Aat	p.D322N	XRRA1_ENST00000321448.8_Missense_Mutation_p.D89N|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.D322N	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	322					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CGGTCAACATCCTTTTTCATG	0.468000													18	23					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409619	130409619	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:130409619C>A	ENST00000370904.1	-	22	3900	c.2990G>T	c.(2989-2991)gGa>gTa	p.G997V	IGSF1_ENST00000361420.3_Missense_Mutation_p.G1006V|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1011V|IGSF1_ENST00000370910.1_Missense_Mutation_p.G997V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1006	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTGGCTTCTCCTTCTTTGTG	0.532000													15	39					7.93312e-07	1.08147e-06	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78804097	78804097	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr9:78804097A>T	ENST00000545128.1	+	19	3006	c.2468A>T	c.(2467-2469)tAc>tTc	p.Y823F	PCSK5_ENST00000376752.4_Missense_Mutation_p.Y823F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	823	CRM (Cys-rich motif).				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						ATCAGCTATTACTTTGACCAC	0.463000													6	50					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86244718	86244718	+	Splice_Site	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:86244718C>T	ENST00000523953.1	-	7	1560		c.e7+1		CA1_ENST00000432364.2_Splice_Site|CA1_ENST00000431316.1_Splice_Site|CA1_ENST00000256119.5_Splice_Site|CA1_ENST00000542576.1_Splice_Site|CA1_ENST00000523022.1_Splice_Site|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I						one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTGTGTTTACCTTGGTTTTA	0.348000													4	55					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27472195	27472195	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:27472195C>G	ENST00000560366.1	-	1	132	c.104G>C	c.(103-105)cGc>cCc	p.R35P	CLU_ENST00000316403.10_5'UTR	NM_001831.3	NP_001822.3	P10909	CLUS_HUMAN	clusterin	0					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTGTGCCCGCGCGCTCCTCC	0.682000											OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	74					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791831	220791831	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:220791831C>T	ENST00000402574.1	+	8	1329	c.327C>T	c.(325-327)ggC>ggT	p.G109G	MARK1_ENST00000366917.4_Silent_p.G244G|MARK1_ENST00000366918.4_Silent_p.G222G	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	244	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGAGTCTGGGCGTCATTCTCT	0.433000													7	69					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844801	248844801	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:248844801C>A	ENST00000342623.3	-	1	828	c.805G>T	c.(805-807)Gat>Tat	p.D269Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATCACTAAATCCTGAATGGAC	0.453000													11	74					0.000673444	0.00076965	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113657431	113657431	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:113657431C>T	ENST00000297405.5	-	20	3461	c.3217G>A	c.(3217-3219)Ggg>Agg	p.G1073R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G969R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1033R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1073R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1073	CUB 6.					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						CCACTAGGCCCTCTAACATCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	43					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8705371	8705371	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:8705371C>A	ENST00000378641.3	+	16	2125	c.1650C>A	c.(1648-1650)gtC>gtA	p.V550V	PLCB1_ENST00000338037.6_Silent_p.V550V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.V550V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	550	PI-PLC Y-box.				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						TTCAGCCAGTCAAGTTTGAGT	0.373000													5	31					0.014758	0.0157143	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508409	106508409	+	Missense_Mutation	SNP	A	A	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:106508409A>T	ENST00000359195.3	+	2	713	c.403A>T	c.(403-405)Atc>Ttc	p.I135F	PIK3CG_ENST00000496166.1_Missense_Mutation_p.I135F|PIK3CG_ENST00000440650.2_Missense_Mutation_p.I135F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	135					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCCGGGCCAGATCCACCTGGT	0.637000													6	15					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815603	105815603	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:105815603T>A	ENST00000353479.5	-	18	1914	c.1624A>T	c.(1624-1626)Agt>Tgt	p.S542C	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.S542C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	542	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCTGTCACTGTGCAGCCCA	0.577000													17	60					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329857	62329857	+	Missense_Mutation	SNP	G	G	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr20:62329857G>A	ENST00000369996.1	+	3	944	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	282					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGCGCTGCGCGTGGCCAGGAT	0.701000													3	6					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745865	140745865	+	Silent	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:140745865C>T	ENST00000518069.1	+	1	1968	c.1968C>T	c.(1966-1968)gcC>gcT	p.A656A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCAGCCACCTTCACGG	0.647000													19	167					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239498	2239498	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:2239498C>A	ENST00000343516.6	-	4	404	c.312G>T	c.(310-312)gcG>gcT	p.A104A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	104					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGGCCGAGCCCGCCTTCAGCA	0.697000													3	20					1	1	1	1	0
HORMAD1	84072	broad.mit.edu	37	1	150684033	150684033	+	Silent	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:150684033T>A	ENST00000368993.2	-	7	420	c.315A>T	c.(313-315)ccA>ccT	p.P105P	HORMAD1_ENST00000361824.2_Silent_p.P105P|HORMAD1_ENST00000322343.7_Silent_p.P98P|HORMAD1_ENST00000368995.4_Intron			Q86X24	HORM1_HUMAN	HORMA domain containing 1	105	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGATCTTCTGGGTTTGTGT	0.284000													23	75					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709324	176709324	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:176709324G>T	ENST00000367662.3	+	14	5307	c.4143G>T	c.(4141-4143)caG>caT	p.Q1381H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1381					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						AGAATCATCAGGGACAGAGGT	0.473000													9	35					0.00448238	0.00491929	1	1	0
GCOM1	145781	broad.mit.edu	37	15	57931725	57931725	+	Silent	SNP	C	C	G	rs150963206	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:57931725C>G	ENST00000574161.1	+	10	1220	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	GCOM1_ENST00000380568.3_Silent_p.V367V|GCOM1_ENST00000587652.1_Silent_p.V367V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Silent_p.V336V|MYZAP_ENST00000267853.5_Silent_p.V367V|GCOM1_ENST00000380569.2_Silent_p.V367V|GCOM1_ENST00000380561.2_Silent_p.V336V|MYZAP_ENST00000380565.4_Silent_p.V367V|GCOM1_ENST00000380560.2_Silent_p.V298V|GCOM1_ENST00000572390.1_Silent_p.V367V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		367					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGAAGAAAGTCAAGCAGATGG	0.537000													6	15					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646708	122646708	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:122646708G>T	ENST00000195173.4	-	8	1082	c.779C>A	c.(778-780)cCt>cAt	p.P260H	SEMA5B_ENST00000357599.3_Missense_Mutation_p.P260H|SEMA5B_ENST00000451055.2_Missense_Mutation_p.P314H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	260	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAGATGGCAGGGTCCCGACC	0.632000													5	34					0.014758	0.0157143	1	1	0
ZNF25	219749	broad.mit.edu	37	10	38241647	38241647	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:38241647C>G	ENST00000302609.7	-	6	991	c.779G>C	c.(778-780)tGt>tCt	p.C260S	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	260					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)				ACACTCCTTACACTCATAGGG	0.438000													13	78					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:7576852C>A	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	43					3.5997e-14	6.32548e-14	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654451	38654451	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:38654451C>A	ENST00000494540.1	+	0	618					NR_003086.1																						AATCTAATTTCAGCCTCGAGG	0.483000													4	37					0.00909568	0.00978792	1	1	0
ZKSCAN3	80317	broad.mit.edu	37	6	28331556	28331556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr6:28331556G>T	ENST00000377255.3	+	6	1018	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.E241*|ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.E93*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	241	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTGTAGAGATGAAAAGCAGGA	0.458000													15	26					2.61681e-11	4.32343e-11	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45987834	45987834	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr21:45987834G>T	ENST00000323084.4	-	2	203	c.138C>A	c.(136-138)agC>agA	p.S46R	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	46					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TCCTGATCCCGCTTGTGGCGC	0.607000													7	31					8.12818e-05	9.74741e-05	1	1	0
FOXL2	668	broad.mit.edu	37	3	138665397	138665397	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:138665397C>G	ENST00000330315.3	-	1	585	c.168G>C	c.(166-168)ccG>ccC	p.P56P		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	56					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	p.P56P(1)		large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTACGAGTACGGGGGCTTCT	0.692000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						3	34					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41054873	41054873	+	Missense_Mutation	SNP	G	G	C			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:41054873G>C	ENST00000399564.4	-	11	1553	c.1103C>G	c.(1102-1104)aCa>aGa	p.T368R	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTTACTTTTGTACTGAGATC	0.348000													10	76					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185589	127185589	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:127185589G>T	ENST00000371124.3	-	1	793	c.597C>A	c.(595-597)agC>agA	p.S199R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	199						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTTAAACCCGCTAGCAAAGA	0.517000													12	37					5.16669e-11	8.46724e-11	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156906671	156906671	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:156906671C>T	ENST00000368194.3	-	40	5606	c.4567G>A	c.(4567-4569)Gct>Act	p.A1523T	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A899T|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.A1483T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1483					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCTCCTTAGCGGGAGGTGAG	0.597000													20	107					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760970	62760970	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:62760970C>A	ENST00000336232.2	-	10	1590	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	SLC22A8_ENST00000535878.1_Silent_p.G362G|SLC22A8_ENST00000545207.1_Silent_p.G394G|SLC22A8_ENST00000430500.2_Silent_p.G485G|SLC22A8_ENST00000311438.8_Silent_p.G485G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	485					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCACTGCCCCCGAGGAGGG	0.597000													33	74					6.00712e-18	1.11352e-17	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173317337	173317337	+	Missense_Mutation	SNP	A	A	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:173317337A>G	ENST00000265085.5	+	1	2055	c.601A>G	c.(601-603)Aat>Gat	p.N201D	CPEB4_ENST00000520867.1_Missense_Mutation_p.N201D|CPEB4_ENST00000519835.1_Missense_Mutation_p.N201D|CPEB4_ENST00000334035.5_Missense_Mutation_p.N201D	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	201							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCGGCTAATAACGGTGC	0.517000													10	98					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71823213	71823213	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:71823213T>A	ENST00000299980.4	-	2	611	c.170A>T	c.(169-171)cAc>cTc	p.H57L	AP1G1_ENST00000423132.2_Missense_Mutation_p.H57L|AP1G1_ENST00000433195.2_Missense_Mutation_p.H80L|AP1G1_ENST00000393512.3_Missense_Mutation_p.H57L|AP1G1_ENST00000569748.1_Missense_Mutation_p.H57L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	57					endocytosis|intracellular protein transport|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|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCCCAGCATGTGCATATACAG	0.448000													7	21					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203036893	203036893	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:203036893C>A	ENST00000367240.2	+	25	3585	c.3058C>A	c.(3058-3060)Cga>Aga	p.R1020R	PPFIA4_ENST00000414050.2_Silent_p.R748R|PPFIA4_ENST00000295706.4_Silent_p.R526R|PPFIA4_ENST00000599966.1_Silent_p.R526R|PPFIA4_ENST00000447715.2_Silent_p.R1019R|PPFIA4_ENST00000272198.6_Silent_p.R535R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	535					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGAAGAGGCGAGAGGAGAG	0.587000													4	54					0.014758	0.0157143	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814159	137814159	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:137814159C>A	ENST00000409968.1	+	3	487	c.309C>A	c.(307-309)ctC>ctA	p.L103L	THSD7B_ENST00000272643.3_Silent_p.L103L|THSD7B_ENST00000413152.2_Silent_p.L72L					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)		ACAGTGACCTCTTTCAGTGGG	0.532000													10	19					7.48243e-07	1.02462e-06	1	1	0
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:14518786G>T	ENST00000454876.2	+	11	1612	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517000													13	48					5.50884e-06	7.06619e-06	1	1	0
TEX15	56154	broad.mit.edu	37	8	30695124	30695124	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:30695124C>A	ENST00000256246.2	-	3	7601	c.7527G>T	c.(7525-7527)tcG>tcT	p.S2509S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2509								p.S2509S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGAGAGCACCGACGCATCAG	0.368000													23	64					5.26018e-13	9.11165e-13	1	1	0
IL23R	149233	broad.mit.edu	37	1	67648553	67648553	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:67648553C>G	ENST00000347310.5	+	4	573	c.402C>G	c.(400-402)gtC>gtG	p.V134V	IL23R_ENST00000371002.1_Silent_p.V134V|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	134	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TAACCTGTGTCATTTATGAAT	0.433000													30	123					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616187	140616187	+	RNA	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr5:140616187C>A	ENST00000526308.1	+	0	2250					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACTCCCTCACCGTCTACCTGG	0.687000													11	93					3.86212e-05	4.72469e-05	1	1	0
FAT4	79633	broad.mit.edu	37	4	126372621	126372621	+	Missense_Mutation	SNP	G	G	T	rs143981594		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:126372621G>T	ENST00000394329.3	+	9	10463	c.10450G>T	c.(10450-10452)Gat>Tat	p.D3484Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D1782Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3484	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3484N(2)		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						TTTGGCTGTTGATTCAGGGAC	0.458000													26	88					2.41591e-17	4.45113e-17	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917567	48917567	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:48917567G>T	ENST00000311378.4	+	2	1446	c.918G>T	c.(916-918)agG>agT	p.R306S	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R213S|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	306						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGGTGGTCAGGGGTCATCAGG	0.642000													5	37					0.00116845	0.00131558	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107601720	107601720	+	Silent	SNP	C	C	G	rs139446144	byFrequency	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:107601720C>G	ENST00000393561.1	-	15	2296	c.2112G>C	c.(2110-2112)gtG>gtC	p.V704V	LAMB1_ENST00000222399.6_Silent_p.V680V|LAMB1_ENST00000393560.1_Silent_p.V680V			P07942	LAMB1_HUMAN	laminin, beta 1	680	Laminin IV type B.				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)	GCTCCAACCTCACCGTGTAGT	0.507000													22	37					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560653	32560653	+	Missense_Mutation	SNP	C	C	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:32560653C>T	ENST00000319778.6	-	13	2500	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	EPC1_ENST00000263062.8_Missense_Mutation_p.R756Q|EPC1_ENST00000375110.2_Missense_Mutation_p.R683Q	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	756					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TACAGTTAATCGAATGTTGTT	0.413000													15	164					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129754656	129754656	+	Silent	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr11:129754656C>A	ENST00000446488.3	-	6	829	c.726G>T	c.(724-726)acG>acT	p.T242T	NFRKB_ENST00000524746.1_Silent_p.T242T|NFRKB_ENST00000304521.5_Silent_p.T242T|NFRKB_ENST00000524794.1_Silent_p.T267T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	242					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)		TTTTCATATCCGTGGTTGAAA	0.552000													11	38					5.03518e-11	8.29645e-11	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966331	88966331	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:88966331C>G	ENST00000333190.4	+	4	4644	c.4035C>G	c.(4033-4035)tcC>tcG	p.S1345S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1345						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAATGTGTCCACACACTTGA	0.348000										HNSCC(36;0.09)			15	64					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31429458	31429458	+	Silent	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr16:31429458C>G	ENST00000389202.2	+	21	2611	c.2562C>G	c.(2560-2562)ggC>ggG	p.G854G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	854					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGATGAGGGCCTAAGAAGCA	0.552000													21	85					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485325	36485325	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:36485325G>T	ENST00000342292.4	-	11	4147	c.4127C>A	c.(4126-4128)aCc>aAc	p.T1376N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1376						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)				CTCTGCCTTGGTGATGTCAGG	0.587000													19	74					8.28177e-16	1.49416e-15	1	1	0
AGAP11	119385	broad.mit.edu	37	10	88768893	88768893	+	RNA	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr10:88768893G>T	ENST00000444431.1	+	0	3493				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TATGAGGAGCGGGATGCCTGG	0.557000													12	159					2.80697e-09	4.3426e-09	1	1	0
UBE2W	55284	broad.mit.edu	37	8	74742676	74742676	+	Missense_Mutation	SNP	T	T	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:74742676T>A	ENST00000517608.1	-	2	134	c.134A>T	c.(133-135)cAa>cTa	p.Q45L	UBE2W_ENST00000602593.1_Missense_Mutation_p.Q16L|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.Q16L|UBE2W_ENST00000419880.3_Missense_Mutation_p.Q56L|UBE2W_ENST00000453587.2_Missense_Mutation_p.Q16L|UBE2W_ENST00000602969.1_Missense_Mutation_p.Q27L			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	16				P -> S (in Ref. 1; BAA91954).	protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TGGGTCATTTTGCAAAGCCAA	0.358000													35	90					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2832048	2832048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:2832048C>A	ENST00000520002.1	-	57	9223	c.8668G>T	c.(8668-8670)Gag>Tag	p.E2890*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E2831*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E2832*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E2889*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E2832*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E2890*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2890	Sushi 21.					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)		ATGAGGCTCTCGCTCCCTCTG	0.607000													4	21					2.56e-06	3.36173e-06	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196977661	196977661	+	Missense_Mutation	SNP	C	C	G			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:196977661C>G	ENST00000367414.5	+	10	1686	c.1630C>G	c.(1630-1632)Cag>Gag	p.Q544E	CFHR5_ENST00000256785.4_Missense_Mutation_p.Q520E	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	520	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAATAACATACAGTTAAAATG	0.318000													4	19					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73753032	73753032	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:73753032G>T	ENST00000223398.6	+	3	703	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	CLIP2_ENST00000395060.1_Missense_Mutation_p.G126C|CLIP2_ENST00000361545.5_Missense_Mutation_p.G126C	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	126	CAP-Gly 1.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCGGTGGGCGGCGTGCGCTA	0.697000													3	3					0.115264	0.118982	1	1	0
MYL6	4637	broad.mit.edu	37	12	56552389	56552389	+	Missense_Mutation	SNP	G	G	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr12:56552389G>T	ENST00000536128.1	+	1	244	c.204G>T	c.(202-204)tgG>tgT	p.W68C	MYL6_ENST00000549566.1_Missense_Mutation_p.W68C|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548400.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGTCAGAGTTT	0.567000													22	61					5.26018e-13	9.11165e-13	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23926985	23926985	+	Missense_Mutation	SNP	C	C	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:23926985C>A	ENST00000402377.3	-	4	1508	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	ZNF681_ENST00000395385.3_Missense_Mutation_p.G387V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGGCTTTCCCACATTCTTC	0.363000													5	35					1.23904e-05	1.55007e-05	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448623	89448632	+	Frame_Shift_Del	DEL	AGTGGAGCAC	AGTGGAGCAC	-	rs141468346		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr1:89448623_89448632delAGTGGAGCAC	ENST00000399794.2	-	3	1593_1602	c.878_887delGTGCTCCACT	c.(877-888)atfs	p.SAPL293fs	RBMXL1_ENST00000321792.5_Frame_Shift_Del_p.SAPL293fs|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	293	Ser-rich.						nucleotide binding|RNA binding										CCCTCGTGTAAGTGGAGCACTACGTGAGTT	0.471													17	202	---	---	---	---					
SCN3A	6328	broad.mit.edu	37	2	166020174	166020175	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr2:166020174_166020175delTC	ENST00000283254.7	-	7	1114_1115	c.647_648delGA	c.(646-648)afs	p.R216fs	SCN3A_ENST00000360093.3_Intron|SCN3A_ENST00000409101.3_Intron	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	216						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCTGAATGTTCTCAACGCTGA	0.401													9	50	---	---	---	---					
TMEM110	375346	broad.mit.edu	37	3	52874602	52874603	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:52874602_52874603delTC	ENST00000355083.5	-	8	937_938	c.792_793delGA	c.(790-795)gatgfs	p.EM264fs	TMEM110_ENST00000464769.1_5'UTR|TMEM110-MUSTN1_ENST00000504329.1_Frame_Shift_Del_p.EM264fs	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		GACTCCTCCATCTCATCATCCG	0.599													10	104	---	---	---	---					
NLGN1	22871	broad.mit.edu	37	3	173525577	173525577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr3:173525577delG	ENST00000457714.1	+	4	1030	c.601delG	c.(601-603)gcfs	p.G201fs	NLGN1_ENST00000401917.3_Frame_Shift_Del_p.G241fs|NLGN1_ENST00000361589.4_Frame_Shift_Del_p.G201fs|NLGN1_ENST00000545397.1_Frame_Shift_Del_p.G201fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	218					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGCAAGTTATGGCAATGTGAT	0.428													11	98	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													4	4	---	---	---	---					
NPY5R	4889	broad.mit.edu	37	4	164272308	164272309	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr4:164272308_164272309delTG	ENST00000515560.1	+	4	2405_2406	c.883_884delTG	c.(883-885)tfs	p.C295fs	NPY5R_ENST00000506953.1_Frame_Shift_Del_p.C295fs|NPY5R_ENST00000338566.3_Frame_Shift_Del_p.C295fs			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	295					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAGACAGCATGTGTGTTACCT	0.421													11	69	---	---	---	---					
SCRN1	9805	broad.mit.edu	37	7	30008609	30008609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:30008609delC	ENST00000426154.1	-	2	251	c.75delG	c.(73-75)ggfs	p.G25fs	SCRN1_ENST00000409570.1_Frame_Shift_Del_p.G25fs|SCRN1_ENST00000409497.1_Frame_Shift_Del_p.G25fs|SCRN1_ENST00000242059.5_Frame_Shift_Del_p.G25fs|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	25					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTGAATTTTTCCCAAATACCA	0.512													9	38	---	---	---	---					
COA1	55744	broad.mit.edu	37	7	43688205	43688206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr7:43688205_43688206insA	ENST00000395879.1	-	1	1689_1690	c.8_9insT	c.(7-9)tcafs	p.S3fs	COA1_ENST00000310564.6_Frame_Shift_Ins_p.S3fs|COA1_ENST00000395880.3_Frame_Shift_Ins_p.S3fs|COA1_ENST00000223336.6_Frame_Shift_Ins_p.S3fs					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TTACCTTTTGCCACATCATAGC	0.386													7	174	---	---	---	---					
FTH1P11	2503	broad.mit.edu	37	8	82434242	82434243	+	RNA	INS	-	-	T			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr8:82434242_82434243insT	ENST00000523380.1	+	0	200				RP11-257P3.3_ENST00000518637.1_RNA																							CACCTCGTTGGTTCTGCAGCTT	0.455													10	129	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	4	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													3	4	---	---	---	---					
LINC01579	283682	broad.mit.edu	37	15	94368473	94368473	+	RNA	DEL	G	G	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr15:94368473delG	ENST00000557481.2	-	0	430																											CCACAATGGTGGAGGAGGAAG	0.448													12	30	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													7	9	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9070410	9070411	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:9070410_9070411insTT	ENST00000397910.4	-	3	17238_17239	c.17035_17036insAA	c.(17035-17037)cccfs	p.P5679fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5681	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						GGGCTCTGGGCTTGTTGTGCCC	0.515													8	31	---	---	---	---					
EMP3	2014	broad.mit.edu	37	19	48833641	48833641	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chr19:48833641delG	ENST00000270221.6	+	5	707	c.406delG	c.(406-408)gafs	p.G136fs	EMP3_ENST00000596315.1_Frame_Shift_Del_p.G67fs|EMP3_ENST00000597279.1_Frame_Shift_Del_p.G136fs	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	136					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGGCAGCTTCGGATACTGCTT	0.642													13	61	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41206239	41206239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:41206239delG	ENST00000399959.2	+	15	2598	c.1743delG	c.(1741-1743)aafs	p.K581fs	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.K565fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	581					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ACCACTACAAGGGTAGCAGTC	0.393										HNSCC(61;0.18)			16	42	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130409250	130409250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:130409250delG	ENST00000370904.1	-	23	4078	c.3168delC	c.(3166-3168)ccfs	p.P1056fs	IGSF1_ENST00000370903.3_Frame_Shift_Del_p.P1070fs|IGSF1_ENST00000370910.1_Frame_Shift_Del_p.P1056fs|IGSF1_ENST00000361420.3_Frame_Shift_Del_p.P1065fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1065	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCTGGGTTTGGGGAGTAAGC	0.512													15	54	---	---	---	---					
IL9R	3581	broad.mit.edu	37	X	155233169	155233169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-A4BC-01A-11D-A24D-08	TCGA-91-A4BC-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21f97016-82c3-4e24-9c05-c33b50a635a3	7de22c99-d003-4604-b66f-5b9f8b406d77	g.chrX:155233169delC	ENST00000424344.3	+	4	502	c.135delC	c.(133-135)tgfs	p.C45fs	IL9R_ENST00000244174.5_Frame_Shift_Del_p.C66fs|IL9R_ENST00000540897.1_Frame_Shift_Del_p.C103fs|IL9R_ENST00000369423.2_Frame_Shift_Del_p.C113fs			Q01113	IL9R_HUMAN	interleukin 9 receptor	66					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					GGATCGATTGCCACTGGTCTG	0.602													12	66	---	---	---	---