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
CDH4	1002	broad.mit.edu	37	20	60504867	60504867	+	Missense_Mutation	SNP	G	G	A	rs147702496		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:60504867G>A	ENST00000360469.5	+	13	2294	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	CDH4_ENST00000543233.1_Missense_Mutation_p.V662M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	736					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGTGCCATCGTGGCCATCCT	0.612000													13	51					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86495304	86495304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:86495304G>A	ENST00000297814.2	-	11	2694	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.Q851*|KIF27_ENST00000413982.1_Intron|KIF27_ENST00000376347.1_Nonsense_Mutation_p.Q242*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	851					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTATCTTTTGATATTTCATG	0.363000													11	93					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39765885	39765885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:39765885G>T	ENST00000564288.1	+	22	3262	c.2485G>T	c.(2485-2487)Gaa>Taa	p.E829*	MACF1_ENST00000361689.2_Nonsense_Mutation_p.E834*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E834*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E866*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E834*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E834*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E834*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	834					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTAGGATGAAAAGGAGCA	0.418000													6	116					0.00116845	0.00119331	1	1	0
ZNF16	7564	broad.mit.edu	37	8	146157491	146157491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:146157491G>A	ENST00000276816.4	-	4	868	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.Q228*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGGACTATTTGACGCTGAATA	0.458000													28	85					0	0	1	0	0
MIR21	406991	broad.mit.edu	37	17	57918661	57918661	+	RNA	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:57918661G>C	ENST00000362134.1	+	0	35					NR_029493.1																						GTTGACTGTTGAATCTCATGG	0.448000													4	46					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117489	38117489	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:38117489G>A	ENST00000261439.4	+	16	3071	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E1000K|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	906	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCATATGAGTGAGGAAGAGGC	0.433000													5	43					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31948265	31948265	+	Silent	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:31948265G>T	ENST00000357886.4	-	14	1770	c.1617C>A	c.(1615-1617)ggC>ggA	p.G539G	CDK5RAP1_ENST00000339269.5_Silent_p.G448G|CDK5RAP1_ENST00000346416.2_Silent_p.G525G|CDK5RAP1_ENST00000544843.1_3'UTR|CDK5RAP1_ENST00000473997.1_Silent_p.G435G			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	539	CDK5R1-binding.|TRAM.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CATCATTCCTGCCACACAGGT	0.502000													10	41					3.07112e-06	3.23276e-06	1	1	0
ERO1L	30001	broad.mit.edu	37	14	53130536	53130536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr14:53130536G>C	ENST00000395686.3	-	8	882	c.659C>G	c.(658-660)cCt>cGt	p.P220R		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	220					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AGAAGCCAAAGGATTTAAAGG	0.303000													3	27					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626219	80626219	+	Silent	SNP	T	T	C	rs78642785	byFrequency	TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:80626219T>C	ENST00000307624.3	-	15	1690	c.1662A>G	c.(1660-1662)acA>acG	p.T554T	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	554					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACCTTTAAAATGTGCTTACAA	0.398000													4	40					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112462037	112462037	+	Silent	SNP	C	C	T	rs148096716	byFrequency	TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:112462037C>T	ENST00000230538.7	-	22	3298	c.2901G>A	c.(2899-2901)tcG>tcA	p.S967S	LAMA4_ENST00000424408.2_Silent_p.S960S|LAMA4_ENST00000389463.4_Silent_p.S960S|LAMA4_ENST00000522006.1_Silent_p.S960S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	967	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTCATCTCCCGAAAATTCCC	0.443000													4	40					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968709	2968709	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:2968709C>T	ENST00000342628.2	-	10	1614	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	ITFG2_ENST00000545509.1_3'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.E448K|FOXM1_ENST00000359843.3_Missense_Mutation_p.E463K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	463	Glu/Pro/Ser/Thr-rich.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGCTGGATTTCTTCCTCCTTG	0.522000													9	40					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651884	196651884	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:196651884C>G	ENST00000312428.6	-	58	10828	c.10728G>C	c.(10726-10728)aaG>aaC	p.K3576N	DNAH7_ENST00000409063.1_Missense_Mutation_p.K59N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3576	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3576N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGCAATTTCTTGAATTCCT	0.338000													5	53					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43441294	43441294	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:43441294C>T	ENST00000260403.2	+	7	1090	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	271						integral to membrane		p.R271S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTGCACACTCGTCACTTCCA	0.408000													10	53					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514917	88514917	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:88514917G>A	ENST00000552810.1	-	14	1559	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.H406Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	406					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTTCATATGAGTCTGTTGA	0.378000													5	18					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44408981	44408981	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:44408981G>C	ENST00000342649.4	+	5	780	c.353G>C	c.(352-354)aGa>aCa	p.R118T	TCAIM_ENST00000417237.1_Missense_Mutation_p.R118T	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2			T cell activation inhibitor, mitochondrial																		TTGCACACCAGAGATCTGCTA	0.333000													5	69					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136614389	136614389	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:136614389C>G	ENST00000264156.2	-	11	1595	c.1535G>C	c.(1534-1536)aGa>aCa	p.R512T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	512	MCM.				cell cycle checkpoint|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	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TGATTTTGATCTGTCATAGTG	0.408000													8	38					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51737851	51737851	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:51737851A>G	ENST00000415259.1	+	5	1842	c.761A>G	c.(760-762)gAc>gGc	p.D254G	TEX264_ENST00000341333.5_Missense_Mutation_p.D254G|TEX264_ENST00000395057.1_Missense_Mutation_p.D254G|TEX264_ENST00000416589.1_Missense_Mutation_p.D254G|TEX264_ENST00000457573.1_Missense_Mutation_p.D254G|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	254						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGCTGGGATGACGGTGACACC	0.627000													4	66					0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169927999	169927999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:169927999G>A	ENST00000306193.3	-	3	475	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	CBR4_ENST00000504480.1_Nonsense_Mutation_p.Q103*	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368000													7	107					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42752654	42752654	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:42752654G>C	ENST00000222329.4	-	4	1767	c.1610C>G	c.(1609-1611)gCc>gGc	p.A537G	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.A462G	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	537					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CTGGGCCGTGGCATGCTGGAG	0.672000													6	27					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059302	12059302	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:12059302G>C	ENST00000482090.1	+	3	827	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.E155Q|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAAGGCATATGAGTATCAGGA	0.398000													20	146					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	34004718	34004718	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:34004718G>A	ENST00000335606.6	-	3	601	c.513C>T	c.(511-513)cgC>cgT	p.R171R	AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000502637.1_Silent_p.R171R|AMACR_ENST00000382068.3_Intron|AMACR_ENST00000426255.2_Silent_p.R171R|AMACR_ENST00000382072.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000512079.1_Silent_p.R171R|AMACR_ENST00000382085.3_Silent_p.R171R	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	171					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CAGTGCGTGTGCGGTCAAAAA	0.478000													7	80					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62498295	62498295	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:62498295C>G	ENST00000225792.5	-	10	1542	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	DDX5_ENST00000450599.2_Missense_Mutation_p.D302H|DDX5_ENST00000578804.1_Missense_Mutation_p.D381H	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	381	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGAACCCAGTCACGCTCTTGT	0.388000			T	ETV4	prostate								7	39					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27168491	27168491	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:27168491C>G	ENST00000305364.4	-	1	345	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	TRIM35_ENST00000521253.1_Missense_Mutation_p.E88Q	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	88					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CGCGCGCCCTCGGCCTCCTCG	0.682000													2	4					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	677903	677903	+	Silent	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:677903C>G	ENST00000360578.5	-	2	394	c.273G>C	c.(271-273)gtG>gtC	p.V91V		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	91	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGTGACGGTCACGTTCCTGC	0.647000													5	70					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39070261	39070261	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:39070261C>T	ENST00000295373.6	-	12	2437	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	771							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCCACTTCTTCAAATGCAGTT	0.443000													7	40					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142161947	142161947	+	RNA	SNP	A	A	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:142161947A>T	ENST00000390371.3	-	0	371																											CTGCTGGCACAGAAGTACACA	0.562000													14	223					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65426193	65426193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:65426193C>G	ENST00000525693.1	-	7	722	c.660G>C	c.(658-660)caG>caC	p.Q220H	RELA_ENST00000308639.9_Missense_Mutation_p.Q217H|RELA_ENST00000406246.3_Missense_Mutation_p.Q220H			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTATACCTTTCTGCACCTTGT	0.562000													4	59					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74290270	74290270	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chrX:74290270C>G	ENST00000253577.3	-	10	1322	c.1298G>C	c.(1297-1299)aGa>aCa	p.R433T	ABCB7_ENST00000373394.3_Missense_Mutation_p.R432T|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.R392T	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	432	ABC transmembrane type-1.		E -> K (in ASAT; impaired maturation of cytosolic Fe/S proteins).		cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCTAGTCTCTCTATATACAGT	0.368000													12	46					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133329949	133329949	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:133329949C>T	ENST00000260810.5	-	25	4203	c.4072G>A	c.(4072-4074)Gat>Aat	p.D1358N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1358					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTCAGAACATCAAGTATGGAA	0.423000								Other conserved DNA damage response genes					5	54					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102493584	102493584	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:102493584T>G	ENST00000413150.2	+	23	2726	c.2671T>G	c.(2671-2673)Ttg>Gtg	p.L891V	MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1057V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L775V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L779V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L895V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1016V|MAP4K4_ENST00000347699.4_Missense_Mutation_p.L976V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1009V	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	976	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTTGAGGGCTTGAATGTCTT	0.418000													4	21					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139077648	139077648	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:139077648C>T	ENST00000333188.5	-	20	2672	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	COPB2_ENST00000507777.1_Missense_Mutation_p.E802K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	831					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCTCTCTTCATTTGGCTAT	0.368000													3	32					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	C	T	rs147434701	byFrequency	TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:120935629C>T	ENST00000310396.5	+	23	3471	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCGCCATATCATGTCAGAGG	0.378000													5	66					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76717763	76717763	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:76717763G>A	ENST00000264917.5	+	20	2413	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	PDE8B_ENST00000346042.3_Missense_Mutation_p.D693N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D770N|PDE8B_ENST00000505283.1_Missense_Mutation_p.D255N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D743N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D735N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	790	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCGCCCCTTGGACCTGTGCAT	0.527000													3	27					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35059068	35059068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:35059068G>A	ENST00000358901.6	-	15	3048	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	718					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACCATGGCTGATGGGTTTGT	0.552000													7	48					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256018	240256018	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:240256018C>T	ENST00000319653.9	+	1	839	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	203	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.I346M(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGCGATCCGCCTgcagc	0.627000													8	24					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2608738	2608738	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:2608738G>A	ENST00000261597.4	+	15	1779	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	533	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTGAGCTTGAGTCCTTGGA	0.428000													5	27					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020320	90020320	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:90020320G>A	ENST00000268122.4	-	8	1298	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	RHCG_ENST00000544600.1_Silent_p.I410I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	410					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CACCCACAATGATGCCACCCA	0.582000													7	89					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907712	77907712	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:77907712G>A	ENST00000355300.6	-	2	711	c.537C>T	c.(535-537)ctC>ctT	p.L179L	LINGO1_ENST00000561030.1_Silent_p.L173L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	179					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGATGTAGACGAGGTCATTGT	0.562000													12	117					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140100686	140100686	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:140100686G>A	ENST00000371521.4	+	2	221	c.138G>A	c.(136-138)gtG>gtA	p.V46V	NDOR1_ENST00000458322.2_Silent_p.V46V|NDOR1_ENST00000344894.5_Silent_p.V46V|NDOR1_ENST00000427047.2_Silent_p.V46V	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	46	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TTGTTGAGGTGAATCTGATTA	0.527000													19	163					0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25669469	25669469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:25669469G>A	ENST00000374358.4	+	3	664	c.111G>A	c.(109-111)tgG>tgA	p.W37*	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	37						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		CAGGCTGGTGGATTATCATAG	0.383000													4	41					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54866655	54866655	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:54866655G>C	ENST00000297313.3	+	5	855	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.E140Q|RGS20_ENST00000276500.4_Missense_Mutation_p.E108Q|RGS20_ENST00000522225.1_5'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	255					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TACTCTGGAAGAAGTCAACGC	0.448000													9	55					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508725	106508725	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:106508725C>A	ENST00000359195.3	+	2	1029	c.719C>A	c.(718-720)aCc>aAc	p.T240N	PIK3CG_ENST00000496166.1_Missense_Mutation_p.T240N|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T240N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	240					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						CCCGACGACACCCCCGGCGCC	0.537000													16	84					0.00400662	0.00407453	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469553	25469553	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:25469553G>A	ENST00000264709.3	-	10	1552	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	DNMT3A_ENST00000380746.4_Silent_p.P216P|DNMT3A_ENST00000402667.1_Silent_p.P182P|DNMT3A_ENST00000321117.5_Silent_p.P405P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	405					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCAATCATGGGCTTGTTCT	0.647000			"""Mis, F, N, S"""		AML								18	54					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5383380	5383380	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:5383380G>C	ENST00000158771.4	-	6	663	c.608C>G	c.(607-609)tCt>tGt	p.S203C	DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000570848.1_3'UTR	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	203					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						TCACAAAATAGATGGTGTTTT	0.403000													6	65					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113504	18113504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:18113504C>T	ENST00000403915.1	+	3	1680	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.S410F	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	410					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACAAGTTTTCCAAGTACTAC	0.488000													6	65					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156646359	156646359	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:156646359C>G	ENST00000368223.3	-	1	830	c.698G>C	c.(697-699)gGa>gCa	p.G233A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	233	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGAGGCCTCCGCGCTCAGC	0.716000													4	4					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:35773690C>T	ENST00000360215.1	+	1	620	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000373853.1_Silent_p.G81G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572000													8	123					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22194078	22194078	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:22194078G>A	ENST00000344041.6	-	17	1634	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.S291F	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	291	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CTTACCCCCAGAGAATGTGAT	0.438000													4	27					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446457	10446457	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:10446457C>A	ENST00000326756.3	-	3	1934	c.1496G>T	c.(1495-1497)gGa>gTa	p.G499V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G499V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGATGCAGCTCCAAGACTACG	0.373000													6	73					1.6384e-10	1.75543e-10	1	1	0
CD93	22918	broad.mit.edu	37	20	23065545	23065545	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:23065545C>G	ENST00000246006.4	-	1	1432	c.1285G>C	c.(1285-1287)Gat>Cat	p.D429H		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	429	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACACACTCATCCACGTCCTGG	0.657000													9	79					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3389977	3389977	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:3389977G>A	ENST00000378378.4	+	8	1601	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R103Q|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R111Q|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R111Q	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	399	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCGCCTTCCGAGAGGCCCTG	0.652000													7	57					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134323119	134323119	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:134323119C>T	ENST00000508956.1	-	10	1282	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	KY_ENST00000423778.2_Missense_Mutation_p.E430K|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	430						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGTGTACTCCAGCACTGAG	0.562000													3	19					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266779	112266779	+	Silent	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:112266779C>A	ENST00000369583.3	+	3	899	c.615C>A	c.(613-615)atC>atA	p.I205I	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	205	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ACCTGCACATCACAGCCCTGC	0.577000													7	151					0.00621372	0.00629237	1	1	0
MUC17	140453	broad.mit.edu	37	7	100678223	100678223	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:100678223G>A	ENST00000306151.4	+	3	3590	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1176	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAACAC	0.517000													30	287					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37185051	37185051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:37185051C>G	ENST00000274258.7	-	25	4550	c.963G>C	c.(961-963)gaG>gaC	p.E321D	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1440D|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1440D			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1440										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATCTGGTTTCTCTTCTTCAA	0.428000													9	58					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87540815	87540815	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:87540815C>T	ENST00000521271.1	+	3	204	c.42C>T	c.(40-42)tcC>tcT	p.S14S	CPNE3_ENST00000198765.4_Silent_p.S14S	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	14	C2 1.				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						TGAATGTTTCCTGTGCCAATC	0.398000													4	45					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190446	79190446	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:79190446C>G	ENST00000282003.6	-	6	1508	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	484	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTGTTCCCCTCTGAACTTTCA	0.353000													4	37					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400539	113400539	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:113400539C>G	ENST00000228928.7	+	9	2095	c.1916C>G	c.(1915-1917)gCc>gGc	p.A639G	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	639	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACCATCTTTGCCTGGGAGCAG	0.602000													27	90					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731775	6731775	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:6731775C>A	ENST00000405858.1	-	5	1339	c.798G>T	c.(796-798)atG>atT	p.M266I	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.M228I|ZNF12_ENST00000404360.1_Missense_Mutation_p.M192I	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	266					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATAGGGCTTCATTTCCATAT	0.388000													3	32					6.4e-05	6.64935e-05	1	1	0
CFTR	1080	broad.mit.edu	37	7	117267812	117267812	+	Missense_Mutation	SNP	T	T	G	rs34911792	byFrequency	TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:117267812T>G	ENST00000003084.6	+	22	3837	c.3705T>G	c.(3703-3705)agT>agG	p.S1235R	CFTR_ENST00000454343.1_Missense_Mutation_p.S1174R|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1235	ABC transporter 2.		S -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAATAAGTCCTGGCCAGA	0.433000									Cystic Fibrosis				4	60					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514029	75514029	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr14:75514029C>T	ENST00000355774.2	-	2	2545	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	MLH3_ENST00000556257.1_Missense_Mutation_p.G777E|MLH3_ENST00000556740.1_Missense_Mutation_p.G777E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.G777E	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	777					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGTAGTGACTCCATTACTTTC	0.403000								Mismatch excision repair (MMR)					16	111					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912859	60912859	+	Splice_Site	SNP	C	C	T	rs111974560		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:60912859C>T	ENST00000252999.3	-	15	2093		c.e15+1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGGCACTCACGGACACAGCT	0.657000													4	62					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:7580988C>A	ENST00000379802.3	+	23	4906	c.4565C>A	c.(4564-4566)aCg>aAg	p.T1522K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1522	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTAGTGCGACGGAGACAATA	0.473000													11	79					0.00829132	0.00836099	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98588099	98588099	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:98588099G>C	ENST00000359863.4	+	63	9834	c.9625G>C	c.(9625-9627)Gat>Cat	p.D3209H	TRRAP_ENST00000446306.3_Missense_Mutation_p.D3180H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D3180H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3209	FAT.				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)			TTTGAGTTTTGATGATGACAA	0.483000													6	73					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151783950	151783950	+	Splice_Site	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:151783950C>G	ENST00000255262.3	-	1	890	c.725G>C	c.(724-726)aGa>aCa	p.R242T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	242					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GATACTCACTCTGAGTGCCAT	0.473000													7	53					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21892202	21892202	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:21892202G>C	ENST00000328843.6	+	68	11066	c.11035G>C	c.(11035-11037)Gag>Cag	p.E3679Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3672Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3679	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAACTGGTAGAGAGATTGGA	0.483000									Kartagener syndrome				7	65					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891764	2891764	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:2891764C>G	ENST00000254528.3	+	4	1798	c.1639C>G	c.(1639-1641)Caa>Gaa	p.Q547E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	547					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGACAAAGTTCAAGTTGTTGA	0.552000													4	60					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30054188	30054188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:30054188G>A	ENST00000338641.4	+	7	1051	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	NF2_ENST00000403435.1_Missense_Mutation_p.E204K|NF2_ENST00000361452.4_Missense_Mutation_p.E163K|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.E204K|NF2_ENST00000361676.4_Missense_Mutation_p.E162K|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.E204K|NF2_ENST00000334961.7_Missense_Mutation_p.E121K|NF2_ENST00000361166.4_Missense_Mutation_p.E204K|NF2_ENST00000353887.4_Missense_Mutation_p.E121K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	204	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.E204fs*18(1)|p.E204fs*5(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGATGAAGCTGAAATGGAATA	0.502000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				3	23					0	0	1	0	0
LY6G6C	80740	broad.mit.edu	37	6	31689503	31689503	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:31689503G>C	ENST00000375819.2	-	0	119					NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGATAGAGTAGATTTTCAAGG	0.527000													3	15					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286613	240286613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:240286613C>T	ENST00000319653.9	+	2	1980	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	584					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCGTGTAATCAGAATGCCCA	0.478000													9	35					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393592	10393592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:10393592C>T	ENST00000347364.3	-	3	1333	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	MKKS_ENST00000399054.2_Missense_Mutation_p.E191K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome						brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATGTGGCCTTCAGCATTTTCT	0.378000													9	79					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195731	195731	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:195731G>A	ENST00000398612.1	+	6	1267	c.884G>A	c.(883-885)aGa>aAa	p.R295K	ZNF596_ENST00000308811.4_Missense_Mutation_p.R295K|ZNF596_ENST00000320552.2_Missense_Mutation_p.R225K	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCTGACCTTAGAAAACATGAG	0.388000													3	28					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131386709	131386709	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:131386709G>A	ENST00000372739.3	+	46	6045	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1979K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1974K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1974					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAAGCTGGATGAGAACTCGGC	0.557000													4	14					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855664	855664	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:855664C>T	ENST00000301698.1	+	1	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	74										large_intestine(1)|lung(1)|skin(1)	3						TCCTGGCTATCTCTACCACCC	0.627000													3	18					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5494360	5494360	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:5494360G>A	ENST00000355029.4	+	5	545	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.A81T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	135					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCAGCCTCTGCCCAGAAGTT	0.453000													5	34					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216151	140216151	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:140216151C>T	ENST00000525929.1	+	1	2183	c.2183C>T	c.(2182-2184)tCt>tTt	p.S728F	PCDHA7_ENST00000378125.3_Missense_Mutation_p.S728F|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCGTCCTCTGAGGGCGCA	0.617000													4	46					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542704	133542704	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:133542704C>T	ENST00000409261.1	-	14	2053	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.Q560Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	560							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCTCTCCCTCTGTACCTGAG	0.547000													10	67					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062399	160062399	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:160062399G>A	ENST00000368086.1	-	5	1615	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	IGSF8_ENST00000314485.7_Missense_Mutation_p.R467W			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	467	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCACCCCGCACAGAGATG	0.672000													3	33					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36317490	36317490	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:36317490C>A	ENST00000378910.5	-	29	3651	c.3652G>T	c.(3652-3654)Gac>Tac	p.D1218Y	NPHS1_ENST00000353632.6_Missense_Mutation_p.D1178Y	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1218	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCACCTGGTCATAGATTCCT	0.552000													6	39					0.0293803	0.0295033	1	1	0
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:7578382G>C	ENST00000420246.2	-	5	680	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		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.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)		ATCGCTATCTGAGCAGCGCTC	0.647000		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)			9	32					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057923	1057923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:1057923C>G	ENST00000263094.6	+	36	5121	c.4890C>G	c.(4888-4890)atC>atG	p.I1630M	ABCA7_ENST00000435683.2_Missense_Mutation_p.I1492M|ABCA7_ENST00000433129.1_Missense_Mutation_p.I1630M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1630					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTCGATCACACCGCTCA	0.498000													8	71					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45038611	45038611	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:45038611G>C	ENST00000265564.7	+	4	335	c.287G>C	c.(286-288)aGa>aCa	p.R96T	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	96					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TTTGAAGGTAGAGGAGGTGAT	0.438000													6	76					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709415	31709415	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr21:31709415C>A	ENST00000382835.2	-	1	597	c.572G>T	c.(571-573)gGa>gTa	p.G191V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	191						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGTTCAACTCCTGGAGAAGA	0.443000													10	49					1.33987e-11	1.44201e-11	1	1	0
STX2	2054	broad.mit.edu	37	12	131293204	131293204	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:131293204G>A	ENST00000261653.6	-	5	492	c.326C>T	c.(325-327)tCa>tTa	p.S109L	STX2_ENST00000392373.2_Missense_Mutation_p.S109L	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	109					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AAGATCCACTGAAGTCCGGTT	0.368000													24	185					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321442	78321442	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:78321442C>T	ENST00000582970.1	+	29	9450	c.9307C>T	c.(9307-9309)Ctc>Ttc	p.L3103F	RNF213_ENST00000336301.6_Missense_Mutation_p.L1176F|RNF213_ENST00000508628.2_Missense_Mutation_p.L3152F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTGTTGCTTCTCAACCTGCA	0.537000													7	45					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360731	95360731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:95360731C>G	ENST00000371467.1	-	2	374	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.E19Q			P02753	RET4_HUMAN	retinol binding protein 4, plasma	19					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CAGTCGCGCTCCGCGCGGCCG	0.701000													6	47					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134329	39134329	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:39134329C>G	ENST00000351578.6	-	9	1988	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	FYB_ENST00000512982.1_Missense_Mutation_p.E600Q|FYB_ENST00000515010.1_Missense_Mutation_p.E600Q|FYB_ENST00000505428.1_Missense_Mutation_p.E600Q|FYB_ENST00000540520.1_Missense_Mutation_p.E610Q	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	600					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCATCCTGCTCTGCAACATCA	0.358000													11	101					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266722	112266722	+	Silent	SNP	C	C	G	rs146342401	byFrequency	TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:112266722C>G	ENST00000369583.3	+	3	842	c.558C>G	c.(556-558)ctC>ctG	p.L186L	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	186	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTCCCTTCCTCTACCTTGGAA	0.522000													10	159					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12991620	12991620	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:12991620C>T	ENST00000222219.3	-	3	434	c.342G>A	c.(340-342)acG>acA	p.T114T	DNASE2_ENST00000538460.1_Silent_p.T114T	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	114					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCTCACCCTTCGTGTGCCCAC	0.612000													10	64					0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85924684	85924684	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:85924684G>A	ENST00000409696.3	+	5	548	c.266G>A	c.(265-267)cGc>cAc	p.R89H	GNLY_ENST00000524600.1_Missense_Mutation_p.R131H|GNLY_ENST00000263863.4_Missense_Mutation_p.R104H	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	104	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TCACGATGGCGCGACGTCTGC	0.567000													6	48					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41319874	41319874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:41319874G>A	ENST00000361937.3	-	25	3392	c.2968C>T	c.(2968-2970)Cag>Tag	p.Q990*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q990*|RP11-540O11.4_ENST00000560178.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	990	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GATCTCCGCTGATGGACAACC	0.488000													3	33					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50594581	50594581	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:50594581G>A	ENST00000547825.1	-	1	1314	c.45C>T	c.(43-45)atC>atT	p.I15I	LIMA1_ENST00000341247.4_Silent_p.I317I|LIMA1_ENST00000552783.1_Silent_p.I157I|LIMA1_ENST00000552909.1_Silent_p.I157I|LIMA1_ENST00000552823.1_Silent_p.I157I|LIMA1_ENST00000552491.1_Silent_p.I15I|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.I317I	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	317					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTGATGGGTGATGCAGACCT	0.413000													27	248					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98408979	98408979	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:98408979C>T	ENST00000186436.5	-	31	4242	c.4014G>A	c.(4012-4014)gcG>gcA	p.A1338A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1338						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACTGTGCCTCGCGCTGCTGG	0.622000													3	9					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922481	55922481	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:55922481C>T	ENST00000288221.6	-	14	2755	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	834						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AAGTGCGCTTCTTTTTCGGCC	0.532000													8	113					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252083	26252083	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:26252083G>C	ENST00000356350.2	+	1	205	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	69					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D69H(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTTTGTCAACGATATCTTCGA	0.567000													11	80					0	0	1	0	0
CDKN2AIPNL	91368	broad.mit.edu	37	5	133745674	133745674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:133745674C>T	ENST00000458198.2	-	2	302	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	87										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCACCTTGTCTAAAAGGTCT	0.368000													4	41					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565075	175565075	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:175565075C>T	ENST00000274093.3	-	10	1759	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	GLRA3_ENST00000340217.5_Silent_p.K404K	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	419					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CGATAAAGACCTTCCTCATTT	0.438000													5	70					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132446340	132446340	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:132446340C>G	ENST00000333577.4	+	2	1285	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	EP400_ENST00000389561.2_Missense_Mutation_p.F392L|EP400_ENST00000389562.2_Missense_Mutation_p.F392L|EP400_ENST00000332482.4_Missense_Mutation_p.F392L|EP400_ENST00000330386.6_Missense_Mutation_p.F392L			Q96L91	EP400_HUMAN	E1A binding protein p400	392					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AACTGTTTTTCTTGCAACACT	0.423000													7	46					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116439036	116439036	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:116439036C>G	ENST00000319550.4	+	6	539	c.457C>G	c.(457-459)Caa>Gaa	p.Q153E		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	153							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GAACAATGGTCAAAAAACATT	0.313000													3	24					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520095	58520095	+	Silent	SNP	G	G	A	rs146624586		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:58520095G>A	ENST00000302819.5	-	3	606	c.315C>T	c.(313-315)taC>taT	p.Y105Y	ACOX2_ENST00000459701.2_Silent_p.Y105Y	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	105					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACCTGTAAGCGTAGCCTAATT	0.562000													5	92					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395148	3395148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:3395148G>A	ENST00000378378.4	+	12	2191	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E300K|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E308K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E308K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	596	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCCGCCAGGAGCAGCTCCT	0.692000													3	32					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771795	99771795	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:99771795C>T	ENST00000370185.3	+	7	2018	c.1521C>T	c.(1519-1521)ggC>ggT	p.G507G	LPPR4_ENST00000457765.1_Silent_p.G449G|LPPR4_ENST00000370184.1_Silent_p.G349G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		507							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCCAGCCTGGCGCTGTCCCCG	0.562000													10	195					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273593	210273593	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:210273593G>A	ENST00000537238.1	+	7	1228	c.837G>A	c.(835-837)caG>caA	p.Q279Q	SYT14_ENST00000367019.1_Silent_p.Q317Q|SYT14_ENST00000472886.1_Silent_p.Q317Q|SYT14_ENST00000534859.1_Silent_p.Q317Q|SYT14_ENST00000367015.1_Silent_p.Q279Q|SYT14_ENST00000422431.1_Silent_p.Q362Q|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Silent_p.Q317Q	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	317	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAGCATCCAGAGAGGACCAT	0.403000													13	31					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12261014	12261014	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:12261014C>G	ENST00000256194.4	+	17	2384	c.2096C>G	c.(2095-2097)tCc>tGc	p.S699C	MICAL2_ENST00000537344.1_Missense_Mutation_p.S699C|MICAL2_ENST00000527546.1_Missense_Mutation_p.S699C|MICAL2_ENST00000379612.3_Missense_Mutation_p.S699C|MICAL2_ENST00000342902.5_Missense_Mutation_p.S699C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	699						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCTTGGGCTCCAATCAAGAG	0.502000													7	48					0	0	1	0	0
CLTA	1211	broad.mit.edu	37	9	36204091	36204091	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:36204091G>C	ENST00000433436.2	+	4	601	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	CLTA_ENST00000470744.1_Missense_Mutation_p.E134Q|CLTA_ENST00000540080.1_Missense_Mutation_p.E82Q|CLTA_ENST00000396603.2_Missense_Mutation_p.E134Q|CLTA_ENST00000466396.1_Missense_Mutation_p.E82Q|CLTA_ENST00000538225.1_Missense_Mutation_p.E134Q|CLTA_ENST00000345519.5_Missense_Mutation_p.E134Q|CLTA_ENST00000242285.6_Missense_Mutation_p.E134Q	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	134	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GCAAGAAGCAGAGTGGAAAGA	0.423000													3	24					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227806	44227806	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:44227806C>T	ENST00000275015.5	-	5	1410	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	471					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGGCGTCTCATCCTCCACA	0.587000													7	31					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080490	55080490	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:55080490G>A	ENST00000302250.2	-	4	618	c.458C>T	c.(457-459)tCc>tTc	p.S153F	FAM151A_ENST00000371304.2_Missense_Mutation_p.S153F|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	153						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGTCCAGGGAGGGGCCCAC	0.542000													3	32					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855650	855650	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:855650C>G	ENST00000301698.1	+	1	208	c.208C>G	c.(208-210)Cac>Gac	p.H70D		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	70										large_intestine(1)|lung(1)|skin(1)	3						GGCCGGCACTCACTTCCTGGC	0.627000													4	22					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40257803	40257803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:40257803T>C	ENST00000325157.6	-	3	809	c.559A>G	c.(559-561)Aag>Gag	p.K187E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	187										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTAGGAAGCTTATACTTCTTC	0.338000													3	25					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222965	1222965	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:1222965G>A	ENST00000338555.2	+	7	2040	c.896G>A	c.(895-897)gGc>gAc	p.G299D	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G463D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G365D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G299D					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGCGCCCCGGCATCACCCAC	0.682000													3	26					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106495	88106495	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:88106495C>T	ENST00000273963.5	-	3	1014	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	KLHL8_ENST00000512111.1_Missense_Mutation_p.E225K|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Missense_Mutation_p.E149K|KLHL8_ENST00000545252.1_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	225										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTTTCATTTTCAATATTTAGA	0.433000													11	76					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65426220	65426220	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:65426220C>G	ENST00000525693.1	-	7	695	c.633G>C	c.(631-633)gaG>gaC	p.E211D	RELA_ENST00000308639.9_Missense_Mutation_p.E208D|RELA_ENST00000406246.3_Missense_Mutation_p.E211D			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	211	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTAGGAAGATCTCATCCCCAC	0.567000													5	64					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150298290	150298290	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:150298290C>G	ENST00000324862.6	+	3	392	c.227C>G	c.(226-228)tCt>tGt	p.S76C	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.S76C	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	76	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGCCGAAGCTCTAGGCATTCC	0.448000													43	76					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30067901	30067901	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:30067901G>A	ENST00000403435.1	+	11	1410		c.e11-1		NF2_ENST00000361452.4_Silent_p.Q321Q|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Silent_p.Q362Q|NF2_ENST00000361676.4_Silent_p.Q320Q|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Silent_p.Q362Q|NF2_ENST00000334961.7_Silent_p.Q279Q|NF2_ENST00000338641.4_Silent_p.Q362Q|NF2_ENST00000361166.4_Silent_p.Q362Q|NF2_ENST00000353887.4_Silent_p.Q279Q			P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L361fs*6(1)|p.M334_Q362del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGCTGCTGCAGATGAAAGAAG	0.577000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				18	42					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72227070	72227070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:72227070G>A	ENST00000269346.4	+	3	420	c.346G>A	c.(346-348)Gat>Aat	p.D116N	TTYH2_ENST00000529107.1_Missense_Mutation_p.D95N	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	116						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CGAGACCAACGATGGGGCGTA	0.547000													6	50					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107148121	107148121	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:107148121C>T	ENST00000245323.4	-	3	623	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	158					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TGAGGATCTTCATGGCTCTTG	0.468000													13	169					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565081	175565081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:175565081C>T	ENST00000274093.3	-	10	1753	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M402I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	417					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGACCTTCCTCATTTCATCAG	0.458000													4	70					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800147	28800147	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:28800147C>G	ENST00000373839.3	+	7	1166	c.905C>G	c.(904-906)tCa>tGa	p.S302*	PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.S312*|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	302	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GGCATTCCATCAACCTCAGTA	0.478000													7	85					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520472	33520472	+	Silent	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:33520472G>C	ENST00000297307.5	-	1	940	c.855C>G	c.(853-855)gtC>gtG	p.V285V		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	285	DUF6 2.					integral to membrane											CGGAATGTAGGACAGCGCACA	0.587000													11	115					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190225	5190225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:5190225G>T	ENST00000274181.7	+	7	1327	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ADAMTS16_ENST00000511368.1_Nonsense_Mutation_p.E397*	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	397	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGAAGAATGAGCCCTGTGA	0.522000													8	55					0.000274275	0.000282515	1	1	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			6	43					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66601047	66601047	+	Splice_Site	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:66601047G>C	ENST00000319194.5	+	4	435	c.174G>C	c.(172-174)agG>agC	p.R58S	DIS3L_ENST00000441424.2_Splice_Site_p.R7S|DIS3L_ENST00000319212.4_Splice_Site_p.R141S	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	141					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTTTTCCAGGAGCATATACA	0.448000													10	70					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377090	113377090	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:113377090C>T	ENST00000316407.4	-	7	3849	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.E1147K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1147					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						CTCCCCTTCTCAAGGTTCTCC	0.448000													8	70					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640215	58640215	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:58640215A>G	ENST00000598312.1	-	4	889	c.656T>C	c.(655-657)gTt>gCt	p.V219A	ZNF329_ENST00000358067.4_Missense_Mutation_p.V219A	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GTGATGCAAAACAAGAGAAGA	0.418000													9	99					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876840	42876840	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:42876840C>G	ENST00000025301.2	+	8	4133	c.3958C>G	c.(3958-3960)Ctt>Gtt	p.L1320V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1320					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCGTTTATTCTTTCATTACC	0.398000													9	39					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208682	68208682	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:68208682C>T	ENST00000262215.3	-	5	1012	c.623G>A	c.(622-624)cGc>cAc	p.R208H		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	208					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTTTCCATGCGTGCAAAGAT	0.353000													6	73					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057959	1057959	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:1057959C>T	ENST00000263094.6	+	36	5157	c.4926C>T	c.(4924-4926)tcC>tcT	p.S1642S	ABCA7_ENST00000435683.2_Silent_p.S1504S|ABCA7_ENST00000433129.1_Silent_p.S1642S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1642					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTTCTCCGTGCCCAGCA	0.522000													6	58					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95709982	95709982	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:95709982C>T	ENST00000429514.2	+	3	462	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000370202.4_Missense_Mutation_p.H101Y|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Missense_Mutation_p.H101Y			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	101	RWD.		N -> K (in dbSNP:rs2296308).			cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GCCTATGGTTCATGAGCTGGT	0.468000													9	62					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731443	24731443	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr14:24731443C>T	ENST00000206765.6	-	2	239	c.116G>A	c.(115-117)gGa>gAa	p.G39E	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	39	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAACGGCCTCCTCCTCTGCG	0.652000													4	51					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113637102	113637102	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:113637102C>G	ENST00000361127.5	+	5	855	c.657C>G	c.(655-657)ttC>ttG	p.F219L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACCTCCAATTCTTGTGAGTAA	0.333000													7	82					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671857	238671857	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:238671857G>C	ENST00000244815.5	+	10	1669	c.1429G>C	c.(1429-1431)Gaa>Caa	p.E477Q	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E445Q|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E501Q|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	501					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)		TCACAACGAAGAAGAGGGTGA	0.502000													7	44					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11933740	11933740	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:11933740C>G	ENST00000571133.1	-	8	1030	c.958G>C	c.(958-960)Gat>Cat	p.D320H	RSL1D1_ENST00000542106.1_Missense_Mutation_p.D100H	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	320					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGTGCCACATCATCTTTACTA	0.433000													17	97					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500351	75500351	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:75500351C>G	ENST00000360639.2	+	2	2282	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L	C15orf39_ENST00000567617.1_Missense_Mutation_p.F654L|C15orf39_ENST00000394987.4_Missense_Mutation_p.F654L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	654										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCCGAAAGTTCAAGATCCTCC	0.617000													10	70					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56545014	56545014	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:56545014G>C	ENST00000390649.3	+	9	2554	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	852						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGAAGGAAGAGGATGTAAG	0.483000													16	148					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382114	33382114	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:33382114G>C	ENST00000374516.3	+	9	1118	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	PHF1_ENST00000374512.3_Missense_Mutation_p.E283Q	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	283					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTTCACTTCTGAGAATTGGGA	0.493000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255574	5255574	+	Silent	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:5255574G>T	ENST00000380299.3	-	1	304	c.90C>A	c.(88-90)ggC>ggA	p.G30G	HBD_ENST00000292901.3_Silent_p.G30G	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	30					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACCAACCTGCCCAGGGCCT	0.512000													8	60					0.000157383	0.00016281	1	1	0
MYO10	4651	broad.mit.edu	37	5	16763803	16763803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:16763803T>C	ENST00000513610.1	-	13	1842	c.1388A>G	c.(1387-1389)aAc>aGc	p.N463S		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	463	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AATATGCTTGTTGAAGTACTC	0.318000													3	20					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64518843	64518843	+	Silent	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:64518843G>C	ENST00000164139.3	-	16	2321	c.1923C>G	c.(1921-1923)ctC>ctG	p.L641L	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Silent_p.L553L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	641					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGATGACACGGAGGCGGTCAC	0.587000													4	34					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111296516	111296516	+	Silent	SNP	T	T	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:111296516T>G	ENST00000308208.5	+	4	548	c.306T>G	c.(304-306)acT>acG	p.T102T	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.T62T|CCDC63_ENST00000552694.1_Silent_p.T23T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	102										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGCTCCAAACTAAGGAGGACT	0.463000													4	58					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096213	51096213	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:51096213C>T	ENST00000395542.2	-	12	3010	c.2826G>A	c.(2824-2826)caG>caA	p.Q942Q	COBL_ENST00000265136.7_Silent_p.Q860Q			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	860								p.Q860H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGTTCTTCTCTGAGGCTTGA	0.587000													6	72					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248904	49248904	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:49248904C>T	ENST00000332955.2	-	2	760	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	71					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TATAGGCATCCTCATTAAGCG	0.557000													21	75					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106843	88106843	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:88106843C>G	ENST00000273963.5	-	3	666	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	KLHL8_ENST00000512111.1_Missense_Mutation_p.E109Q|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	109	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCTCTAATCTCAATCAGCGTT	0.398000													4	30					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36182019	36182019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:36182019G>C	ENST00000274255.6	+	10	1357	c.1161G>C	c.(1159-1161)caG>caC	p.Q387H	SKP2_ENST00000508514.1_Missense_Mutation_p.Q180H|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.Q173H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCATCTACAGATTAATTGCT	0.443000													6	79					0	0	1	0	0
LRP11	84918	broad.mit.edu	37	6	150158565	150158565	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:150158565G>A	ENST00000239367.2	-	4	953	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LRP11_ENST00000546019.1_Silent_p.F61F	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	316	LDL-receptor class A.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CATCGTCACAGAAGAAGTGGT	0.493000													5	35					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430283	181430283	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:181430283G>C	ENST00000325404.1	+	1	562	c.135G>C	c.(133-135)atG>atC	p.M45I	SOX2_ENST00000431565.2_Missense_Mutation_p.M45I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	45					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AGCGGCCCATGAATGCCTTCA	0.697000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						3	22					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113637017	113637017	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:113637017C>G	ENST00000361127.5	+	5	770	c.572C>G	c.(571-573)tCa>tGa	p.S191*		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GATAATTTATCAAGTTCCTTA	0.333000													5	51					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41923373	41923373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:41923373C>T	ENST00000396512.3	+	16	2127	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Missense_Mutation_p.R679C|POLR3H_ENST00000355209.4_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	679					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TCTGGAGCCTCGCCACCTTGG	0.622000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938583	47938583	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:47938583C>T	ENST00000402813.3	-	10	2277	c.2135G>A	c.(2134-2136)cGa>cAa	p.R712Q	CNGA1_ENST00000358519.4_Missense_Mutation_p.R643Q|CNGA1_ENST00000514170.1_Missense_Mutation_p.R643Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.R643Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.R643Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	643					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCCAAGATTCGGGCAAACCT	0.423000													26	83					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642864	128642864	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:128642864C>T	ENST00000527786.2	+	4	1062	c.573C>T	c.(571-573)ctC>ctT	p.L191L	FLI1_ENST00000281428.8_Silent_p.L125L|FLI1_ENST00000534087.2_Silent_p.L158L|FLI1_ENST00000344954.6_Silent_p.L158L|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGTCACACCTCAGTTACCTCA	0.552000			T	EWSR1	Ewing sarcoma								13	81					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490476	141490476	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:141490476G>A	ENST00000247883.4	+	1	460	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	105					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)					TCTATTGCAAGAAGATCACGA	0.507000													7	55					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394588	3394588	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:3394588G>A	ENST00000378378.4	+	11	2028	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	ARHGEF16_ENST00000413250.2_Silent_p.K245K|ARHGEF16_ENST00000378371.2_Silent_p.K253K|ARHGEF16_ENST00000378373.1_Silent_p.K253K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	541	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAAGAAGAAGAGGTGGCCTT	0.577000													5	42					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64314092	64314092	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:64314092A>G	ENST00000381070.3	+	14	1580	c.1363A>G	c.(1363-1365)Aaa>Gaa	p.K455E	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	455					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TCCAGTGAATAAAAGAAGGAG	0.358000													9	49					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26124027	26124027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:26124027C>A	ENST00000314332.5	-	1	111	c.106G>T	c.(106-108)Gag>Tag	p.E36*	HIST1H2BC_ENST00000396984.1_Nonsense_Mutation_p.E36*			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GAGTAACTCTCCTTGCGGCTG	0.542000													14	108					1.05317e-09	1.12338e-09	1	1	0
ACAD11	84129	broad.mit.edu	37	3	132349340	132349340	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:132349340G>T	ENST00000264990.6	-	7	1875	c.904C>A	c.(904-906)Ctt>Att	p.L302I	ACAD11_ENST00000355458.3_Missense_Mutation_p.L302I|ACAD11_ENST00000489991.1_5'UTR|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.L302I	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CAGTTAGGAAGAATAGAATTA	0.318000													5	44					0.184627	0.184627	1	1	0
OAS3	4940	broad.mit.edu	37	12	113400538	113400538	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:113400538G>T	ENST00000228928.7	+	9	2094	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	639	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACCATCTTTGCCTGGGAGCA	0.597000													26	90					3.28513e-13	3.55149e-13	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113377080	113377080	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:113377080C>G	ENST00000316407.4	-	7	3859	c.3449G>C	c.(3448-3450)aGa>aCa	p.R1150T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1150T	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1150					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						GAGGCCAACTCTCCCCTTCTC	0.443000													5	69					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118440893	118440893	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:118440893C>G	ENST00000311085.8	+	4	384	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q102E	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	102										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TAGTCAGTGGCAGAAAAGTGG	0.323000													5	51					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395596	107395596	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:107395596G>A	ENST00000008527.5	-	4	1408	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	181					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAGACAGAGGAGTTGTGCAC	0.398000													8	106					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939878	150939878	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:150939878C>G	ENST00000392811.2	-	5	820	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000262188.8_Missense_Mutation_p.E129Q|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E116Q	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	129					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTTCCTCTCAAATGCCAAG	0.582000													9	93					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436520	105436520	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:105436520A>G	ENST00000351513.2	-	7	1322	c.1190T>C	c.(1189-1191)gTa>gCa	p.V397A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	397					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTGATCCTACAGCTATTCT	0.383000													7	75					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32729676	32729676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:32729676C>T	ENST00000380250.3	+	15	2024	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGATAGCTTGCAGCAGAAAGA	0.413000													5	42					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387722	56387722	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:56387722G>C	ENST00000423270.1	-	9	2203	c.2204C>G	c.(2203-2205)tCt>tGt	p.S735C	RFX7_ENST00000559447.2_Missense_Mutation_p.S638C|RFX7_ENST00000317318.6_Missense_Mutation_p.S735C|RFX7_ENST00000422057.1_Missense_Mutation_p.S638C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	638					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AACAAGGGCAGAGGAATTCAA	0.418000													6	40					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135275528	135275528	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:135275528C>T	ENST00000334270.2	-	3	1524	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	495					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GAAGCTGTTTCACGGCAGAAC	0.453000													14	67					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32463369	32463369	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr2:32463369C>T	ENST00000404025.2	-	7	2841	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E785K|NLRC4_ENST00000342905.6_Missense_Mutation_p.E120K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E785K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	785					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCAGGCCTTCAGCTGAAAAA	0.353000													6	68					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41319864	41319864	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:41319864G>A	ENST00000361937.3	-	25	3402	c.2978C>T	c.(2977-2979)tCa>tTa	p.S993L	INO80_ENST00000401393.3_Missense_Mutation_p.S993L|RP11-540O11.4_ENST00000560178.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	993	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGGTAGCTGATCTCCGCTG	0.498000													4	38					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131481255	131481255	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:131481255A>G	ENST00000431975.2	+	3	306	c.208A>G	c.(208-210)Agt>Ggt	p.S70G	AKAP7_ENST00000368123.4_Missense_Mutation_p.S48G|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.S69G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		ATGGGTCAAGAGTGATCAAGT	0.318000													5	42					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107361	13107361	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:13107361C>G	ENST00000399002.2	+	9	1550	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	426					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGGGACCACTCAAGGTAAGAG	0.468000													8	72					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359496	70359496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr4:70359496C>T	ENST00000305107.6	-	2	831	c.785G>A	c.(784-786)tGg>tAg	p.W262*	UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W262*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.W126*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	262					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGAAAATCCCAGTAGTTTCG	0.423000													8	70					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563224	125563224	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:125563224G>A	ENST00000277309.2	+	1	855	c.823G>A	c.(823-825)Gcc>Acc	p.A275T		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGCCGTGTGGCCACTGTCAT	0.592000													16	87					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198622	91198622	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:91198622G>A	ENST00000341233.4	-	6	1067	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S256L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	226						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGTCAAAGATGAATAGGGAGA	0.443000													7	38					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171841	104171841	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:104171841G>C	ENST00000392876.3	-	14	1453	c.1413C>G	c.(1411-1413)ttC>ttG	p.F471L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	471							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGGCATTGAAGAAACTCTTGG	0.433000													6	49					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320193	31320193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:31320193C>T	ENST00000269197.5	+	11	2825	c.2825C>T	c.(2824-2826)tCa>tTa	p.S942L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTCCAAGTCATCAGAGCCC	0.413000													3	26					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97181762	97181762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:97181762C>G	ENST00000371247.2	-	8	586	c.397G>C	c.(397-399)Ggc>Cgc	p.G133R	SORBS1_ENST00000371241.1_Missense_Mutation_p.G92R|SORBS1_ENST00000277982.5_Missense_Mutation_p.G133R|SORBS1_ENST00000353505.5_Missense_Mutation_p.G133R|SORBS1_ENST00000607232.1_Missense_Mutation_p.G101R|SORBS1_ENST00000371246.2_Missense_Mutation_p.G133R|SORBS1_ENST00000371245.3_Missense_Mutation_p.G133R|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000393949.1_Missense_Mutation_p.G124R|SORBS1_ENST00000354106.3_Missense_Mutation_p.G124R|SORBS1_ENST00000371249.2_Missense_Mutation_p.G101R|SORBS1_ENST00000347291.4_Missense_Mutation_p.G124R|SORBS1_ENST00000371227.4_Missense_Mutation_p.G133R|SORBS1_ENST00000371239.1_Missense_Mutation_p.G101R|SORBS1_ENST00000361941.3_Missense_Mutation_p.G133R|SORBS1_ENST00000306402.6_Missense_Mutation_p.G133R			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	133					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTCTGTAGCCCTTGGCAGCG	0.527000													3	21					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138758620	138758620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:138758620C>T	ENST00000242351.5	-	7	2170	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.W740*|ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.W618*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	618	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CATACTGAATCCATGTGCCAG	0.483000													6	60					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2697900	2697900	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:2697900G>A	ENST00000320876.6	+	10	1541	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.T401T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	401					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATGCAGACGTTGTATGTAA	0.343000													12	48					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057947	1057947	+	Silent	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:1057947C>A	ENST00000263094.6	+	36	5145	c.4914C>A	c.(4912-4914)tcC>tcA	p.S1638S	ABCA7_ENST00000435683.2_Silent_p.S1500S|ABCA7_ENST00000433129.1_Silent_p.S1638S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1638					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.F1641delF(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCAGCCTCCTTCTTCTTCT	0.507000													5	64					3.86212e-05	4.04764e-05	1	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51960851	51960851	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:51960851C>T	ENST00000321424.3	-	2	663	c.597G>A	c.(595-597)ccG>ccA	p.P199P	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	199	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGTGGGGCCCGGGGAGGACA	0.657000													6	55					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70384506	70384506	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:70384506A>G	ENST00000302243.7	+	2	267	c.104A>G	c.(103-105)aAt>aGt	p.N35S	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000417604.2_Missense_Mutation_p.N35S|DDX19A_ENST00000562509.1_3'UTR	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GCAGATACCAATGGTGAGTCA	0.398000													4	52					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19253837	19253837	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:19253837C>G	ENST00000527884.1	-	7	1242	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	E2F8_ENST00000250024.4_Missense_Mutation_p.R337T|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	337					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTTCGGCCTCTTTCCTCTGT	0.373000													17	90					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3075458	3075458	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:3075458C>T	ENST00000356443.4	-	36	5035	c.4702G>A	c.(4702-4704)Gag>Aag	p.E1568K	MYOM1_ENST00000400569.3_Intron|MYOM1_ENST00000261606.7_Missense_Mutation_p.E1472K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1568						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACTTTTCTCGGCAATGGCA	0.338000													8	68					0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24035843	24035843	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr18:24035843C>G	ENST00000417602.1	-	5	2461	c.2462G>C	c.(2461-2463)aGa>aCa	p.R821T	KCTD1_ENST00000408011.3_Missense_Mutation_p.R213T|KCTD1_ENST00000579973.1_Missense_Mutation_p.R213T|KCTD1_ENST00000317932.7_Missense_Mutation_p.R213T|KCTD1_ENST00000580059.1_Missense_Mutation_p.R213T	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	213					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TTCAAATCCTCTTTGCTGCAA	0.552000													8	34					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333352	227333352	+	Silent	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:227333352A>G	ENST00000366769.3	-	8	2272	c.981T>C	c.(979-981)caT>caC	p.H327H	CDC42BPA_ENST00000535525.1_Silent_p.H327H|CDC42BPA_ENST00000366766.2_Silent_p.H327H|CDC42BPA_ENST00000366765.3_Silent_p.H327H|CDC42BPA_ENST00000334218.5_Silent_p.H327H|CDC42BPA_ENST00000366764.2_Silent_p.H327H|CDC42BPA_ENST00000366767.3_Silent_p.H327H	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	327	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GACCAAGTCGATGTTCTCTGC	0.388000													4	65					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41319844	41319844	+	Missense_Mutation	SNP	G	G	A	rs149600837		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:41319844G>A	ENST00000361937.3	-	25	3422	c.2998C>T	c.(2998-3000)Cgc>Tgc	p.R1000C	INO80_ENST00000401393.3_Missense_Mutation_p.R1000C|RP11-540O11.4_ENST00000560178.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1000	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.R1000C(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCAGGCAGCGACGCAGCGAG	0.502000													6	43					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109562376	109562376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:109562376G>C	ENST00000356711.2	+	16	1863	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	MYO16_ENST00000357550.2_Missense_Mutation_p.E579D|MYO16_ENST00000251041.5_Missense_Mutation_p.E579D|MYO16_ENST00000457511.2_Missense_Mutation_p.E91D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	579	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTGCTAGAGAAATCCAGAC	0.333000													8	80					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058721	1058721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:1058721C>T	ENST00000263094.6	+	38	5485	c.5254C>T	c.(5254-5256)Cag>Tag	p.Q1752*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1614*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1752*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1752					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTACTGCTGCAGCACCGAAG	0.587000													15	62					0	0	1	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18810024	18810024	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:18810024G>A	ENST00000304414.7	-	2	380	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	ARL6IP1_ENST00000546206.2_Splice_Site_p.L28L|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Splice_Site_p.L57L	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	57						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTCACTTACAGAAACACCAAA	0.418000													6	70					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452635	130452635	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:130452635G>T	ENST00000356763.3	-	4	1764	c.1207C>A	c.(1207-1209)Ctt>Att	p.L403I		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	403					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCCAAATGAAGAATCAGTTCC	0.408000													15	97					7.93312e-07	8.38744e-07	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766626	27766626	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chrX:27766626G>A	ENST00000451261.2	+	5	2013	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGATGTCAAGATCTGGACAC	0.483000													3	7					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32092554	32092554	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:32092554C>T	ENST00000403528.2	+	9	1636	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000373706.5_Silent_p.L417L|HCRTR1_ENST00000468521.1_Intron	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	417					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		ATGTGGTGCTCACCAGCGTCA	0.622000													6	86					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65022075	65022075	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:65022075C>T	ENST00000394156.3	-	7	1437	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CDH11_ENST00000566827.1_Silent_p.V202V|CDH11_ENST00000268603.4_Silent_p.V328V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	328	Cadherin 3.				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)		TCAGCTTTATCACCCCCTCCT	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	118					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34214645	34214645	+	Silent	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:34214645C>G	ENST00000317619.3	-	17	1711	c.1317G>C	c.(1315-1317)tcG>tcC	p.S439S	CPNE1_ENST00000317677.5_Silent_p.S444S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Silent_p.S439S|CPNE1_ENST00000397446.1_Silent_p.S439S|CPNE1_ENST00000352393.4_Silent_p.S439S|CPNE1_ENST00000397443.1_Silent_p.S439S			Q99829	CPNE1_HUMAN	copine I	439	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGGCAGGTTCGAGGCACGCA	0.567000													4	53					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123629233	123629233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:123629233G>A	ENST00000373896.3	-	7	877	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R209W(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCAGCATCCGCAGGTACCAT	0.557000													4	28					0	0	1	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342432	16342432	+	RNA	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr17:16342432C>G	ENST00000475953.1	+	0	74				C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA	NR_027667.1																						ATAAAGAGCTCGAGCTTCTGT	0.587000													5	30					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973485	31973485	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr20:31973485G>C	ENST00000357886.4	-	7	1000	c.847C>G	c.(847-849)Cta>Gta	p.L283V	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.L283V|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.L283V|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.L283V|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.L193V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	283					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ACTTCCTCTAGAATGGAGGCA	0.498000													7	52					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563715	140563715	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:140563715C>A	ENST00000361016.2	+	1	2736	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGGAGTTCGAGTTCCGCG	0.687000													6	34					0.00116845	0.00119331	1	1	0
BLK	640	broad.mit.edu	37	8	11415490	11415490	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr8:11415490G>A	ENST00000259089.4	+	10	1564	c.972G>A	c.(970-972)ctG>ctA	p.L324L	BLK_ENST00000529894.1_Silent_p.L253L|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	324	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGGATTTCCTGAAGACAGATG	0.557000													5	31					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30772643	30772643	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:30772643C>T	ENST00000405659.1	+	12	2877	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	CCDC157_ENST00000338306.3_Missense_Mutation_p.P723L|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	723										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCCAGAACCCCATCAAGGTC	0.652000													6	35					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134121168	134121168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr11:134121168C>G	ENST00000341541.3	-	2	539	c.78G>C	c.(76-78)gaG>gaC	p.E26D	THYN1_ENST00000352327.5_Missense_Mutation_p.E26D|THYN1_ENST00000392594.3_Missense_Mutation_p.E26D|THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000392595.2_Missense_Mutation_p.E26D	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	26						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CACCTGAGTTCTCAGTTTTGG	0.418000													25	227					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56527641	56527641	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:56527641G>A	ENST00000394048.5	+	13	1721	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R486Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R486Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	486	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TACCTGGATCGGGCCCAGGAT	0.567000													4	70					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135255986	135255986	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:135255986C>T	ENST00000285968.6	+	2	188	c.162C>T	c.(160-162)ttC>ttT	p.F54F	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	54					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCATTGTTCAAAAATCCGG	0.313000													4	52					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147862774	147862774	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:147862774C>T	ENST00000360693.3	-	8	1417	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Missense_Mutation_p.D387N|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Missense_Mutation_p.D401N|HTR4_ENST00000314512.6_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	387					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCCTAAGTGTCACTGGGCTGA	0.587000											OREG0016902	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	26					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9712777	9712777	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr3:9712777C>G	ENST00000296003.4	+	6	722	c.600C>G	c.(598-600)atC>atG	p.I200M	MTMR14_ENST00000351233.5_Missense_Mutation_p.I200M|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.I200M	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	200						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCTATGACATCAAGCTGCTTC	0.453000													9	63					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118477209	118477209	+	Silent	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:118477209G>C	ENST00000349139.5	+	3	332	c.285G>C	c.(283-285)ctG>ctC	p.L95L	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCAGTCTCCTGAGTGGGGAAG	0.498000													5	60					0	0	1	0	0
UBE2D2	7322	broad.mit.edu	37	5	138994349	138994349	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:138994349A>G	ENST00000253815.2	+	5	978	c.101A>G	c.(100-102)aAa>aGa	p.K34R	UBE2D2_ENST00000505548.1_Missense_Mutation_p.K34R|UBE2D2_ENST00000398733.3_Missense_Mutation_p.K63R|UBE2D2_ENST00000511725.1_Missense_Mutation_p.K34R	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	63					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACCCCTTCAAACCACCTAAG	0.333000													11	48					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985234	72985234	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr14:72985234G>C	ENST00000553530.1	+	15	1474	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	RGS6_ENST00000555571.1_Missense_Mutation_p.E423Q|RGS6_ENST00000434263.2_Missense_Mutation_p.E354Q|RGS6_ENST00000402788.2_Missense_Mutation_p.E423Q|RGS6_ENST00000553525.1_Missense_Mutation_p.E423Q|RGS6_ENST00000406236.4_Missense_Mutation_p.E423Q|RGS6_ENST00000407322.4_Missense_Mutation_p.E423Q|RGS6_ENST00000554782.1_Missense_Mutation_p.E284Q|RGS6_ENST00000355512.6_Missense_Mutation_p.E423Q|RGS6_ENST00000343854.6_Missense_Mutation_p.E386Q|RGS6_ENST00000556437.1_Missense_Mutation_p.E423Q|RGS6_ENST00000404301.2_Missense_Mutation_p.E423Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	423	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATATACATTTGAAGACGCCCA	0.443000													5	37					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710753	34710753	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr19:34710753C>G	ENST00000544216.3	+	8	1184	c.1107C>G	c.(1105-1107)ttC>ttG	p.F369L	LSM14A_ENST00000433627.5_Missense_Mutation_p.F369L|LSM14A_ENST00000540746.2_Missense_Mutation_p.F328L	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	369					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTAAATCCTTCTTTGATAATA	0.323000													4	24					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56385940	56385940	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:56385940G>C	ENST00000423270.1	-	9	3985	c.3986C>G	c.(3985-3987)tCt>tGt	p.S1329C	RFX7_ENST00000559447.2_Missense_Mutation_p.S1232C|RFX7_ENST00000317318.6_Missense_Mutation_p.S1329C|RFX7_ENST00000422057.1_Missense_Mutation_p.S1232C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1232					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTCCAGGAGAAAAATTGAT	0.403000													7	47					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186303469	186303469	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:186303469C>T	ENST00000367478.4	-	36	5466	c.5170G>A	c.(5170-5172)Gaa>Aaa	p.E1724K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCCTGTGATTCCACTTGTGTA	0.408000			T	NTRK1	papillary thyroid								9	27					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79984387	79984387	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chrX:79984387C>A	ENST00000373275.4	-	14	1466	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	417										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTGTCTTCTCCAGATGGCAA	0.333000													7	36					1.26484e-09	1.3432e-09	1	1	0
B4GALT2	8704	broad.mit.edu	37	1	44451007	44451007	+	Silent	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:44451007G>C	ENST00000356836.6	+	5	1588	c.798G>C	c.(796-798)ctG>ctC	p.L266L	B4GALT2_ENST00000309519.7_Silent_p.L295L|B4GALT2_ENST00000434555.2_Silent_p.L200L|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Silent_p.L266L	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	266					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTCAGTTTCTGAGAATCAATG	0.567000													4	36					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72244159	72244159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr15:72244159C>T	ENST00000356056.5	-	15	2733	c.2261G>A	c.(2260-2262)aGg>aAg	p.R754K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R349K|MYO9A_ENST00000424560.1_Missense_Mutation_p.R754K|MYO9A_ENST00000444904.1_Missense_Mutation_p.R735K|MYO9A_ENST00000564571.1_Missense_Mutation_p.R754K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	754					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTAAGCTCCTCTGGTGGAC	0.398000													9	136					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407114	117407114	+	Splice_Site	SNP	C	C	G			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:117407114C>G	ENST00000160373.3	-	9	2986	c.2895G>C	c.(2893-2895)ctG>ctC	p.L965L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	965										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATCACTCACTCAGATTCTCCA	0.458000													4	43					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012272	57012272	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr6:57012272G>C	ENST00000370706.4	+	10	1633	c.1389G>C	c.(1387-1389)caG>caC	p.Q463H	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.Q463H|ZNF451_ENST00000491832.2_Missense_Mutation_p.Q463H	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q463H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGTGTCCAGAAAGAAAAAT	0.378000													13	69					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050835	90050835	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr5:90050835G>C	ENST00000405460.2	+	55	11509	c.11413G>C	c.(11413-11415)Gat>Cat	p.D3805H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3805					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATAGCTCGAGATAAAGGACT	0.388000													11	79					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457656	41457656	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr21:41457656C>T	ENST00000400454.1	-	23	4482	c.4005G>A	c.(4003-4005)cgG>cgA	p.R1335R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGATGCTCCTCCGCCCATCAA	0.458000													4	53					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976621	34976621	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr9:34976621G>A	ENST00000242315.3	+	5	815	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	KIAA1045_ENST00000544237.1_Missense_Mutation_p.E245K|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	245							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)			TGAGGAGCAAGAAGAGCAGGC	0.617000													7	36					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095483	143095483	+	Silent	SNP	C	C	T			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr7:143095483C>T	ENST00000275815.3	-	7	1481	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	465	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGCCCAGGTCAGCTCTAGTT	0.567000													6	35					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88930307	88930307	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr10:88930307G>C	ENST00000298786.4	+	5	1820	c.1706G>C	c.(1705-1707)aGa>aCa	p.R569T	FAM35A_ENST00000298784.1_Missense_Mutation_p.R569T			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	569										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCCTACCTCAGAGATCTTCCT	0.423000													8	87					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283942	25283942	+	Silent	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr13:25283942G>A	ENST00000218548.6	+	19	3090	c.2757G>A	c.(2755-2757)ttG>ttA	p.L919L	ATP12A_ENST00000381946.3_Silent_p.L913L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	913					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)	TGAATGACTTGAAAGACAGCT	0.517000													8	92					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675614	62675614	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:62675614G>A	ENST00000498273.1	+	4	1463	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	390	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTGGATGAAGAGGCCTCAGG	0.493000													8	64					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr1:154842331_154842333delTGC	ENST00000271915.4	-	1	423_425	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													2	4	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						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)	ATGCCAATGCTGGGGGGGCTCT	0.589													10	35	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763868	72763869	+	RNA	INS	-	-	A			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr16:72763868_72763869insA	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAAA	0.436													3	3	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													3	5	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154221214	154221214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42F-01A-11D-A23U-08	TCGA-BT-A42F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583933e3-22a7-4db1-8921-b4b2273836fb	dcd1b3dc-f6cd-4f9a-b97f-9025a6dea4a7	g.chrX:154221214delC	ENST00000360256.4	-	4	798	c.598delG	c.(598-600)gaafs	p.E200fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	200	F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTTACCTTCTCTACATACT	0.418													7	34	---	---	---	---