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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
DVL1	1855	broad.mit.edu	37	1	1273500	1273500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:1273500G>A	uc001aer.3	-	14	1543	c.1496C>T	c.(1495-1497)CCG>CTG	p.P499L	DVL1_uc002quu.2_Missense_Mutation_p.P241L|DVL1_uc009vka.2_Missense_Mutation_p.P182L|DVL1_uc001aeu.1_Missense_Mutation_p.P258L	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	524					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGGGGCAGCGGGGCCAGCGT	0.721		NA											7	16					0	0	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579445	11579445	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:11579445G>T	uc001ash.3	+	8	2061	c.1923G>T	c.(1921-1923)CTG>CTT	p.L641L	PTCHD2_uc001asi.1_Silent_p.L641L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	641	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGACCTCCCTGCACTTCCCCG	0.652		NA											55	159					7.07e-37	2.01e-36	1	0
EPHA2	1969	broad.mit.edu	37	1	16456829	16456829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16456829C>T	uc001aya.1	-	15	2698	c.2561G>A	c.(2560-2562)TGG>TAG	p.W854*		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTGCTGCCAGCACTGCAT	0.612		NA											16	51					0	0	0	0
KIF17	57576	broad.mit.edu	37	1	21031314	21031314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:21031314G>A	uc001bdr.3	-	5	867	c.749C>T	c.(748-750)ACC>ATC	p.T250I	KIF17_uc001bds.3_Missense_Mutation_p.T250I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	250	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTGGCCCCGGTCTTGGACTG	0.667		NA											11	78					0	0	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816681	22816681	+	Silent	SNP	G	G	A	rs138737436		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:22816681G>A	uc001bft.2	+	3	751	c.240G>A	c.(238-240)ACG>ACA	p.T80T	ZBTB40_uc001bfu.2_Silent_p.T80T|ZBTB40_uc009vqi.1_Silent_p.T80T	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	80	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGATGTACACGGGCAAACTAC	0.463		NA											9	60					0	0	0	0
C1orf172	126695	broad.mit.edu	37	1	27277199	27277199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27277199C>A	uc001bni.1	-	3	1177	c.1088G>T	c.(1087-1089)CGG>CTG	p.R363L		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	363										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCAGCTTCCGGGCGATGGC	0.597		NA											33	120					5.72e-15	1.58e-14	1	0
NT5C1A	84618	broad.mit.edu	37	1	40131889	40131889	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:40131889A>G	uc001cdq.1	-	2	155	c.155T>C	c.(154-156)GTC>GCC	p.V52A		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	52					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGATGGTGACTGCATTCTG	0.592		NA											7	36					0	0	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630439	43630439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:43630439C>A	uc001cin.2	-	8	942	c.745G>T	c.(745-747)GGT>TGT	p.G249C	EBNA1BP2_uc001cio.2_Missense_Mutation_p.G304C|EBNA1BP2_uc001cim.2_Missense_Mutation_p.G144C|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.G304C	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	249					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCACCAAAACCAAACTTCTGG	0.483		NA											19	60					1.16e-05	3.02e-05	1	0
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:44441472G>T	uc001cld.2	+	2	179	c.68G>T	c.(67-69)GGA>GTA	p.G23V	ATP6V0B_uc001clc.2_Missense_Mutation_p.G23V|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	23	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552		NA											49	171					4.33e-36	1.23e-35	1	0
C1orf168	199920	broad.mit.edu	37	1	57209833	57209833	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:57209833C>T	uc001cym.3	-	10	1900	c.1494G>A	c.(1492-1494)AGG>AGA	p.R498R	C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	498										ovary(3)|skin(2)	5						ACACCTCTTTCCTGGAGTACT	0.408		NA											27	91					0	0	0	0
DOCK7	85440	broad.mit.edu	37	1	62960063	62960063	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:62960063T>C	uc001daq.2	-	40	5107	c.5073A>G	c.(5071-5073)GAA>GAG	p.E1691E	DOCK7_uc001dan.2_Silent_p.E1552E|DOCK7_uc001dao.2_Silent_p.E1552E|DOCK7_uc001dap.2_Silent_p.E1669E|DOCK7_uc001dam.2_Silent_p.E871E|DOCK7_uc010oov.1_Silent_p.E430E	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1700	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						GATTGCTTCGTTCTGAGTGCT	0.478		NA											17	56					0	0	0	0
CTH	1491	broad.mit.edu	37	1	70900825	70900825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:70900825G>C	uc001dfd.2	+	10	1161	c.1017G>C	c.(1015-1017)GAG>GAC	p.E339D	CTH_uc001dfe.2_Missense_Mutation_p.E295D|CTH_uc010oqq.1_Missense_Mutation_p.E307D	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	339		Substrate.			cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTCTGGCCGAGAGCTTGGGAG	0.289		NA											7	20					0	0	0	0
GBP5	115362	broad.mit.edu	37	1	89729518	89729518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:89729518C>A	uc001dnc.2	-	9	1800	c.1263G>T	c.(1261-1263)AAG>AAT	p.K421N	GBP5_uc001dnd.2_Missense_Mutation_p.K421N|GBP5_uc001dne.1_Missense_Mutation_p.K421N	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	421						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAATTCCCTGCTTCACTGCTT	0.423		NA											54	150					1.86e-20	5.21e-20	1	0
HFM1	164045	broad.mit.edu	37	1	91845680	91845680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:91845680C>A	uc001doa.3	-	8	1087	c.987G>T	c.(985-987)TTG>TTT	p.L329F	HFM1_uc010osu.1_Missense_Mutation_p.L8F|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.L329F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	329	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTAATATTCAACCATGGCA	0.284		NA											9	55					0.000274275	0.00069307	1	0
CELSR2	1952	broad.mit.edu	37	1	109812163	109812163	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:109812163G>A	uc001dxa.3	+	21	6991	c.6930G>A	c.(6928-6930)GAG>GAA	p.E2310E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2310	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTGCTGGAGACAGAGGAGC	0.607		NA											16	73					0	0	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903485	155903485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:155903485T>C	uc001fmi.1	-	2	218	c.194A>G	c.(193-195)AAG>AGG	p.K65R	KIAA0907_uc001fmj.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrk.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.K65R|KIAA0907_uc001fmm.2_Missense_Mutation_p.K65R|KIAA0907_uc001fmo.2_Missense_Mutation_p.K65R	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	65											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCATTAATCTTGGCAGCCAC	0.542		NA											5	21					0	0	0	0
PRCC	5546	broad.mit.edu	37	1	156756531	156756531	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:156756531G>A	uc001fqa.2	+	3	938	c.648G>A	c.(646-648)AAG>AAA	p.K216K	PRCC_uc001fqb.2_Silent_p.K216K	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	216					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGATACTAAGCCCTCCAGAC	0.562		NA	T	TFE3	papillary renal 								19	74					0	0	0	0
LY9	4063	broad.mit.edu	37	1	160769734	160769734	+	Nonsense_Mutation	SNP	C	C	T	rs12049314		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:160769734C>T	uc001fwu.2	+	2	366	c.316C>T	c.(316-318)CGA>TGA	p.R106*	LY9_uc001fwt.2_Nonsense_Mutation_p.R106*|LY9_uc010pjs.1_Nonsense_Mutation_p.R106*|LY9_uc001fwv.2_Nonsense_Mutation_p.R106*|LY9_uc001fww.2_Nonsense_Mutation_p.R106*|LY9_uc001fwx.2_Nonsense_Mutation_p.R106*|LY9_uc001fwy.1_Nonsense_Mutation_p.R8*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	106	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTACCTGGGCCGACTAGACAT	0.448		NA											17	87					0	0	0	0
LAMC2	3918	broad.mit.edu	37	1	183177126	183177126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:183177126C>A	uc001gqa.2	+	2	504	c.190C>A	c.(190-192)CAC>AAC	p.H64N	LAMC2_uc001gpz.3_Missense_Mutation_p.H64N|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	64	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TGATGGCATTCACTGCGAGAA	0.483		NA											100	254					4.71e-39	1.34e-38	1	0
KCNT2	343450	broad.mit.edu	37	1	196303052	196303052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:196303052A>G	uc001gtd.1	-	17	1982	c.1922T>C	c.(1921-1923)ATT>ACT	p.I641T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.I591T|KCNT2_uc001gtf.1_Missense_Mutation_p.I641T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.I641T|KCNT2_uc001gth.1_Missense_Mutation_p.I162T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	641	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ACATGTTTGAATCGATGATGT	0.403		NA											14	42					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197390489	197390489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:197390489G>A	uc001gtz.2	+	6	1666	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	CRB1_uc010poz.1_Missense_Mutation_p.A442T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A399T|CRB1_uc010ppb.1_Missense_Mutation_p.A511T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.A160T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	511	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTGTAACATAGCCCTCAGGTT	0.488		NA											30	61					0	0	0	0
PTPRC	5788	broad.mit.edu	37	1	198713291	198713291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:198713291G>A	uc001gur.1	+	26	2980	c.2800G>A	c.(2800-2802)GAT>AAT	p.D934N	PTPRC_uc001gus.1_Missense_Mutation_p.D886N|PTPRC_uc001gut.1_Missense_Mutation_p.D773N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	934	Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAAGAAAAGGGATCCACCCAG	0.328		NA											6	20					0	0	0	0
GPR25	2848	broad.mit.edu	37	1	200842300	200842300	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200842300C>G	uc001gvn.1	+	1	135	c.135C>G	c.(133-135)CTC>CTG	p.L45L		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	45	Helical; Name=1; (Potential).					integral to plasma membrane				ovary(1)	1						TCCCCGCGCTCTACCTGGCGG	0.592		NA											5	18					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200954056	200954056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200954056C>T	uc001gvs.1	-	27	4051	c.3734G>A	c.(3733-3735)CGG>CAG	p.R1245Q	KIF21B_uc001gvr.1_Missense_Mutation_p.R1245Q|KIF21B_uc009wzl.1_Missense_Mutation_p.R1245Q|KIF21B_uc010ppn.1_Missense_Mutation_p.R1245Q	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ATTGCGGGGCCGAGTGGGAGG	0.627		NA											12	48					0	0	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097163	202097163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:202097163C>T	uc001gxj.2	+	2	988	c.925C>T	c.(925-927)CGC>TGC	p.R309C		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	309	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCAGAACGCCCGCATGTGGTG	0.612		NA											25	64					0	0	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631061	205631061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:205631061G>A	uc001hda.1	-	4	1491	c.1152C>T	c.(1150-1152)CTC>CTT	p.L384L	SLC45A3_uc010prn.1_Silent_p.L62L|SLC45A3_uc010pro.1_Silent_p.L218L|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	384	Helical; Name=10; (Potential).				transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAACCCGGTGAGGGCGGCTG	0.622		NA	T	ETV1|ETV5|ELK4|ERG	prostate 								11	48					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228468382	228468382	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:228468382C>T	uc009xez.1	+	30	8126	c.8082C>T	c.(8080-8082)TTC>TTT	p.F2694F	OBSCN_uc001hsn.2_Silent_p.F2694F|OBSCN_uc001hsp.1_Silent_p.F393F|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2694	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTATGACTTCCTGCACACGG	0.682		NA											28	102					0	0	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489592	233489592	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:233489592C>T	uc001hvt.3	+	3	1287	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	KIAA1804_uc001hvs.1_Silent_p.V342V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	342	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCGGAGAAGTCCCCTATCGGG	0.517		NA											18	57					0	0	0	0
OR2L2	26246	broad.mit.edu	37	1	248201622	248201622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:248201622C>A	uc001idw.2	+	1	149	c.53C>A	c.(52-54)CCA>CAA	p.P18Q	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCTGTTCCCACAATCAAGA	0.368		NA											43	135					1.38e-09	3.73e-09	1	0
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:26377303C>T	uc001isn.2	+	15	1891	c.1531C>T	c.(1531-1533)CTG>TTG	p.L511L	MYO3A_uc009xko.1_Silent_p.L511L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L511L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TGAATATCTCCTGGAAAAATC	0.343		NA											4	36					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33199181	33199181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33199181C>T	uc001iws.3	-	14	2270	c.2134G>A	c.(2134-2136)GAG>AAG	p.E712K	ITGB1_uc001iwp.3_Missense_Mutation_p.E712K|ITGB1_uc001iwq.3_Missense_Mutation_p.E712K|ITGB1_uc001iwr.3_Missense_Mutation_p.E712K|ITGB1_uc001iwt.3_Missense_Mutation_p.E712K|ITGB1_uc001iwu.1_Missense_Mutation_p.E712K	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	712	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACCATGACCTCGTTGTTCCCA	0.423		NA											4	30					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33200509	33200509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33200509C>T	uc001iws.3	-	13	1934	c.1798G>A	c.(1798-1800)GAA>AAA	p.E600K	ITGB1_uc001iwp.3_Missense_Mutation_p.E600K|ITGB1_uc001iwq.3_Missense_Mutation_p.E600K|ITGB1_uc001iwr.3_Missense_Mutation_p.E600K|ITGB1_uc001iwt.3_Missense_Mutation_p.E600K|ITGB1_uc001iwu.1_Missense_Mutation_p.E600K	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	600	Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGCTGGCTTCACAAGTACTA	0.493		NA											27	138					0	0	0	0
AGAP8	728404	broad.mit.edu	37	10	51225526	51225526	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51225526G>C	uc001jij.2	-	7	1582	c.1456C>G	c.(1456-1458)CTT>GTT	p.L486V	PARG_uc001jih.2_Intron|PARG_uc001jif.2_Intron|PARG_uc001jig.2_Intron|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Intron|PARG_uc009xoj.2_Intron|PARG_uc010qgx.1_Intron|AGAP8_uc009xom.2_Missense_Mutation_p.L401V|AGAP8_uc001jik.2_Missense_Mutation_p.L470V|AGAP8_uc010qgy.1_Missense_Mutation_p.L509V|uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	486	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CGGGTGCCAAGACTGTGGTGG	0.522		NA											5	290					0	0	0	0
AGAP7	653268	broad.mit.edu	37	10	51465428	51465428	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51465428T>C	uc001jio.2	-	7	1154	c.1028A>G	c.(1027-1029)GAC>GGC	p.D343G	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGTGTCCATGTCCTTGGATAG	0.557		NA											48	221					0	0	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687810	68687810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:68687810C>A	uc001jmz.1	+	2	1686	c.1136C>A	c.(1135-1137)ACG>AAG	p.T379K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.T379K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	379	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCAAAGCCGACGTTTAAGCCC	0.577		NA											17	58					2e-07	5.36e-07	1	0
COL13A1	1305	broad.mit.edu	37	10	71631932	71631932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:71631932C>T	uc001jpr.1	+	3	901	c.365C>T	c.(364-366)GCA>GTA	p.A122V	COL13A1_uc001jqj.1_Missense_Mutation_p.A122V|COL13A1_uc001jps.1_Missense_Mutation_p.A122V|COL13A1_uc001jpt.1_Missense_Mutation_p.A122V|COL13A1_uc001jpu.1_Missense_Mutation_p.A122V|COL13A1_uc001jpv.1_Missense_Mutation_p.A122V|COL13A1_uc001jpx.1_Missense_Mutation_p.A122V|COL13A1_uc001jpw.1_Missense_Mutation_p.A122V|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Missense_Mutation_p.A122V|COL13A1_uc001jqb.1_Missense_Mutation_p.A122V|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Missense_Mutation_p.A122V|COL13A1_uc001jqe.1_Missense_Mutation_p.A122V|COL13A1_uc001jqf.1_Missense_Mutation_p.A122V|COL13A1_uc001jqg.1_Missense_Mutation_p.A122V|COL13A1_uc001jqh.1_Missense_Mutation_p.A122V|COL13A1_uc001jqi.1_Missense_Mutation_p.A122V|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	122	Extracellular (Potential).|Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTCACTCTTCATTTCAGGGT	0.348		NA											8	36					0	0	0	0
C10orf54	64115	broad.mit.edu	37	10	73515124	73515124	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73515124G>C	uc001jsd.2	-	4	809	c.668C>G	c.(667-669)TCC>TGC	p.S223C	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Missense_Mutation_p.S91C|C10orf54_uc009xqm.2_Missense_Mutation_p.S61C	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	223	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ACGGCGGTTGGAGGCTGCCTG	0.637		NA											7	18					0	0	0	0
CDH23	64072	broad.mit.edu	37	10	73537541	73537541	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73537541C>T	uc001jrx.3	+	37	5327	c.4950C>T	c.(4948-4950)CTC>CTT	p.L1650L		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1650	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CAGACACGCTCAACACCAGCC	0.582		NA											13	38					0	0	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828253	94828253	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:94828253G>A	uc010qns.1	+	6	1368	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	456					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				GCGGCGGTGCGCGCAGCTGCC	0.706		NA											5	24					0	0	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458317	101458317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:101458317G>A	uc001kqa.3	+	10	1215	c.1037G>A	c.(1036-1038)AGT>AAT	p.S346N	ENTPD7_uc009xwl.2_Missense_Mutation_p.S348N	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	346	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAGGTCTGAGTCCCGACAAT	0.448		NA											15	43					0	0	0	0
FAM178A	55719	broad.mit.edu	37	10	102676401	102676401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:102676401G>C	uc001krt.3	+	3	801	c.259G>C	c.(259-261)GAG>CAG	p.E87Q	FAM178A_uc001krr.1_Missense_Mutation_p.E87Q|FAM178A_uc001krs.2_Missense_Mutation_p.E87Q|FAM178A_uc001kru.1_Missense_Mutation_p.E23Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	87											0						CACTGGGACAGAGCAGTTTGA	0.373		NA											10	26					0	0	0	0
HPS6	79803	broad.mit.edu	37	10	103826348	103826348	+	Missense_Mutation	SNP	G	G	A	rs140222296		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:103826348G>A	uc001kuj.2	+	1	1202	c.1117G>A	c.(1117-1119)GGG>AGG	p.G373R		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572		NA							Hermansky-Pudlak_syndrome				11	60					0	0	0	0
GPAM	57678	broad.mit.edu	37	10	113933472	113933472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:113933472G>A	uc009xxy.1	-	7	743	c.545C>T	c.(544-546)TCA>TTA	p.S182L	GPAM_uc001kzp.2_Missense_Mutation_p.S182L|GPAM_uc001kzq.1_Missense_Mutation_p.S182L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	182					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		CATTGCCGGTGAGACAGTGGC	0.403		NA											19	47					0	0	0	0
BET1L	51272	broad.mit.edu	37	11	205338	205338	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:205338G>A	uc001loe.2	-	4	401	c.300C>T	c.(298-300)TTC>TTT	p.F100F	BET1L_uc001lod.2_3'UTR	NM_001098787	NP_001092257	Q9NYM9	BET1L_HUMAN	blocked early in transport 1 homolog (S.	100	Helical; Anchor for type IV membrane protein; (Potential).				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity				0		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAGAGGATGAAGAAGGCCA	0.567		NA											9	28					0	0	0	0
STK33	65975	broad.mit.edu	37	11	8478907	8478907	+	Silent	SNP	T	T	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:8478907T>A	uc001mgi.1	-	5	1597	c.678A>T	c.(676-678)ATA>ATT	p.I226I	STK33_uc001mgj.1_Silent_p.I226I|STK33_uc001mgk.1_Silent_p.I226I|STK33_uc010rbn.1_Silent_p.I185I|STK33_uc001mgl.3_Silent_p.I39I|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	226	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGATATGCTATAGCTGATG	0.388		NA											12	39					0	0	0	0
PAMR1	25891	broad.mit.edu	37	11	35456112	35456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:35456112C>T	uc001mwg.2	-	10	1617	c.1574G>A	c.(1573-1575)GGG>GAG	p.G525E	PAMR1_uc001mwf.2_Missense_Mutation_p.G542E|PAMR1_uc010rew.1_Missense_Mutation_p.G414E|PAMR1_uc010rex.1_Missense_Mutation_p.G485E	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	525	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GTAGAATTTCCCCAAAACAAC	0.537		NA											23	107					0	0	0	0
F2	2147	broad.mit.edu	37	11	46747651	46747651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:46747651G>A	uc001ndf.3	+	7	845	c.802G>A	c.(802-804)GAT>AAT	p.D268N	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	268	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CCCAGACGGGGATGAGGAGGG	0.632		NA											21	121					0	0	0	0
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:55594959G>A	uc001nhy.1	+	1	265	c.265G>A	c.(265-267)GAC>AAC	p.D89N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473		NA								HNSCC(27;0.073)			53	68					0	0	0	0
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56258161G>C	uc001nix.1	-	1	686	c.686C>G	c.(685-687)TCT>TGT	p.S229C		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413		NA											8	47					0	0	0	0
OR5M11	219487	broad.mit.edu	37	11	56309925	56309925	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56309925G>T	uc010rjl.1	-	1	809	c.809C>A	c.(808-810)TCT>TAT	p.S270Y		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATTATTTTAGATTCCTCAAC	0.408		NA											23	69					9.96e-16	2.76e-15	1	0
PRG3	10394	broad.mit.edu	37	11	57145249	57145249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:57145249G>A	uc001njv.1	-	5	678	c.568C>T	c.(568-570)CCA>TCA	p.P190S		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	190	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						GGTTGCCCTGGGGACCAGTAA	0.557		NA											12	34					0	0	0	0
DDB1	1642	broad.mit.edu	37	11	61084032	61084032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61084032C>T	uc001nrc.3	-	11	1459	c.1233G>A	c.(1231-1233)TGG>TGA	p.W411*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.W411*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.W411*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	411	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						ACCGCAGTGGCCATAATCCTG	0.458		NA						NER					29	104					0	0	0	0
FADS2	9415	broad.mit.edu	37	11	61632693	61632693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61632693G>T	uc001nsl.1	+	11	1377	c.1227G>T	c.(1225-1227)AAG>AAT	p.K409N	FADS2_uc001nsj.2_Missense_Mutation_p.K387N|FADS2_uc010rlo.1_Missense_Mutation_p.K378N	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	409	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	TATGTGCCAAGCATGGCATTG	0.612		NA											18	55					4.76e-15	1.31e-14	1	0
KAT5	10524	broad.mit.edu	37	11	65484420	65484420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65484420C>T	uc001ofi.2	+	11	1382	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C	KAT5_uc001ofj.2_Missense_Mutation_p.R326C|KAT5_uc001ofk.2_Missense_Mutation_p.R411C|KAT5_uc010roo.1_Missense_Mutation_p.R359C|KAT5_uc001ofl.2_Missense_Mutation_p.R167C	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	378	Acetyl-CoA binding.				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						TCCCTACCAGCGCCGGGGCTA	0.592		NA											28	85					0	0	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788061	65788061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65788061G>A	uc001ogt.2	-	7	2103	c.1965C>T	c.(1963-1965)ATC>ATT	p.I655I		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	655	Helical; Name=Segment S6; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						ACTGGATGATGATGTAAATTA	0.597		NA											9	39					0	0	0	0
FAM86C	55199	broad.mit.edu	37	11	71500886	71500886	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:71500886C>A	uc001oqv.3	+	2	180	c.154C>A	c.(154-156)CAG>AAG	p.Q52K	FAM86C_uc009ysr.2_Missense_Mutation_p.Q52K|FAM86C_uc001oqw.3_Missense_Mutation_p.Q52K|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	hypothetical protein LOC55199 isoform 1	52											0						GGATATTTTGCAGAAGGTAAG	0.483		NA											20	72					6.45e-10	1.76e-09	1	0
C11orf87	399947	broad.mit.edu	37	11	109294892	109294892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:109294892C>A	uc001pkn.2	+	2	907	c.533C>A	c.(532-534)GCA>GAA	p.A178E	C11orf87_uc010rwb.1_RNA	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	178	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						GGAGCACACGCAGCTTCCTCC	0.637		NA											21	34					4.35e-09	1.17e-08	1	0
APLP2	334	broad.mit.edu	37	11	130000002	130000002	+	Missense_Mutation	SNP	C	C	T	rs149975560		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:130000002C>T	uc010sby.1	+	11	1682	c.1525C>T	c.(1525-1527)CGT>TGT	p.R509C	APLP2_uc001qfp.2_Missense_Mutation_p.R509C|APLP2_uc001qfq.2_Missense_Mutation_p.R453C|APLP2_uc010sbz.1_Missense_Mutation_p.R297C|APLP2_uc001qfr.2_Missense_Mutation_p.R275C|APLP2_uc001qfs.2_Missense_Mutation_p.R280C|APLP2_uc001qfv.2_Missense_Mutation_p.R400C	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	509	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACATACCATCCGTCATTACCA	0.478		NA											24	113					0	0	0	0
A2ML1	144568	broad.mit.edu	37	12	9021141	9021141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:9021141G>A	uc001quz.3	+	32	4168	c.4070G>A	c.(4069-4071)GGG>GAG	p.G1357E	A2ML1_uc001qva.1_Missense_Mutation_p.G937E|A2ML1_uc010sgm.1_Missense_Mutation_p.G857E|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1201						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						AGTTATGTGGGGAGCCGTAGC	0.388		NA											40	97					0	0	0	0
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:11422583C>T	uc001qzs.2	-	1	59	c.21G>A	c.(19-21)TCG>TCA	p.S7S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	7						extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532		NA											18	69					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:12318022G>A	uc001rah.3	-	8	1895	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.R585*	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	585	Extracellular (Potential).|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CCAATCACTCGATGAACATTT	0.423		NA											31	91					0	0	0	0
DENND5B	160518	broad.mit.edu	37	12	31605306	31605306	+	Silent	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:31605306A>T	uc001rki.1	-	5	1383	c.1197T>A	c.(1195-1197)GTT>GTA	p.V399V	DENND5B_uc001rkh.1_Silent_p.V434V|DENND5B_uc009zjq.1_Silent_p.V318V|DENND5B_uc001rkj.2_Silent_p.V421V|DENND5B_uc001rkk.1_Silent_p.V321V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	399						integral to membrane				ovary(1)|central_nervous_system(1)	2						ATTGAACAAGAACCTCAGAGA	0.403		NA											17	66					0	0	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777495	43777495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:43777495G>A	uc010skx.1	-	31	4663	c.4663C>T	c.(4663-4665)CGA>TGA	p.R1555*		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1555	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.R1555*(1)		central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACTCCATTCGTTGATGTGAA	0.343		NA											8	55					0	0	0	0
ARID2	196528	broad.mit.edu	37	12	46245639	46245639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46245639C>T	uc001ros.1	+	15	3733	c.3733C>T	c.(3733-3735)CAA>TAA	p.Q1245*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1245*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q701*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q872*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q579*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1245					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATTTGCCAAAAGGAGGA	0.458		NA											14	57					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49420049	49420049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420049C>T	uc001rta.3	-	48	15700	c.15700G>A	c.(15700-15702)GAG>AAG	p.E5234K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5234	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCGTTGTTCTCACCAATAGAA	0.597		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			25	65					0	0	0	0
ACVR1B	91	broad.mit.edu	37	12	52369156	52369156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:52369156C>T	uc001rzn.2	+	2	241	c.199C>T	c.(199-201)CGC>TGC	p.R67C	ACVR1B_uc001rzl.2_Missense_Mutation_p.R67C|ACVR1B_uc001rzm.2_Missense_Mutation_p.R67C|ACVR1B_uc010snn.1_Missense_Mutation_p.R67C	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	67	Extracellular (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCACCATGTGCGCACCTGCAT	0.592		NA											18	46					0	0	0	0
HOXC11	3227	broad.mit.edu	37	12	54367367	54367367	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:54367367C>A	uc001sem.2	+	1	458	c.342C>A	c.(340-342)CTC>CTA	p.L114L		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	114					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGAGATCCTCATGAAAAACG	0.637		NA	T	NUP98	AML								54	193					2.48e-22	6.94e-22	1	0
KIAA0748	9840	broad.mit.edu	37	12	55356756	55356756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:55356756C>T	uc001sgn.3	-	9	1036	c.926G>A	c.(925-927)AGG>AAG	p.R309K	KIAA0748_uc001sgl.3_Missense_Mutation_p.R171K|KIAA0748_uc001sgm.3_Missense_Mutation_p.R56K|KIAA0748_uc010spb.1_Missense_Mutation_p.R56K|KIAA0748_uc010spc.1_Missense_Mutation_p.R171K|KIAA0748_uc010spd.1_Missense_Mutation_p.R309K|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	309										ovary(1)|central_nervous_system(1)	2						CAAACTGTTCCTTTTGGGGGT	0.532		NA											15	46					0	0	0	0
DPY19L2	283417	broad.mit.edu	37	12	63964555	63964555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:63964555G>T	uc001srp.1	-	20	2164	c.1983C>A	c.(1981-1983)TAC>TAA	p.Y661*	DPY19L2_uc010sso.1_Nonsense_Mutation_p.Y108*	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	661					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGCATCTTCGTAATGTGGAT	0.388		NA											18	89					1.34e-09	3.62e-09	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72005625	72005625	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:72005625C>G	uc001swo.2	-	32	6029	c.5670G>C	c.(5668-5670)CTG>CTC	p.L1890L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1890					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTTGAAGTTTCAGAATCTGAA	0.363		NA											12	45					0	0	0	0
ALX1	8092	broad.mit.edu	37	12	85695240	85695240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:85695240C>T	uc001tae.3	+	4	972	c.968C>T	c.(967-969)TCA>TTA	p.S323L		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	323					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		GCCAATATTTCATGGGCCATG	0.368		NA											16	50					0	0	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110474131	110474131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:110474131G>C	uc001tpx.2	+	14	1834	c.1575G>C	c.(1573-1575)GAG>GAC	p.E525D	ANKRD13A_uc010sxw.1_Missense_Mutation_p.E524D|ANKRD13A_uc001tpy.2_Missense_Mutation_p.E125D|ANKRD13A_uc001tpz.2_Missense_Mutation_p.E163D|ANKRD13A_uc001tqa.2_3'UTR	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	525	UIM 1.										0						CCCAGTATGAGAGGTGATTGA	0.517		NA											28	105					0	0	0	0
KDM2B	84678	broad.mit.edu	37	12	121947475	121947475	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:121947475C>T	uc001uat.2	-	11	1646	c.1542G>A	c.(1540-1542)CTG>CTA	p.L514L	KDM2B_uc001uar.2_Silent_p.L105L|KDM2B_uc001uas.2_Silent_p.L483L|KDM2B_uc001uau.2_Silent_p.L397L|KDM2B_uc001uav.3_Silent_p.L424L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	514					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCAGGCCCTTCAGTTCAAACT	0.597		NA											16	59					0	0	0	0
MMP17	4326	broad.mit.edu	37	12	132326314	132326314	+	Silent	SNP	C	C	T	rs73162905	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132326314C>T	uc001ujc.1	+	5	951	c.852C>T	c.(850-852)TAC>TAT	p.Y284Y	MMP17_uc001ujd.1_Silent_p.Y200Y	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	284					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGCTCCCCTACGAGGACAAGG	0.662		NA											8	14					0	0	0	0
ULK1	8408	broad.mit.edu	37	12	132401500	132401500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132401500C>T	uc001uje.2	+	21	2343	c.2075C>T	c.(2074-2076)TCT>TTT	p.S692F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	692					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TCCCACAGGTCTTTCAGCACC	0.657		NA											5	44					0	0	0	0
KCTD4	386618	broad.mit.edu	37	13	45768657	45768657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:45768657C>T	uc001uzx.3	-	2	450	c.46G>A	c.(46-48)GGG>AGG	p.G16R	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGTGTTTCCCTTCATACTCC	0.353		NA											40	121					0	0	0	0
CPB2	1361	broad.mit.edu	37	13	46632457	46632457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:46632457C>G	uc001vaw.2	-	9	923	c.856G>C	c.(856-858)GAA>CAA	p.E286Q	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.E249Q	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	286					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACTTCTGGTTCTGACTCAGGA	0.428		NA											16	91					0	0	0	0
CLDN10	9071	broad.mit.edu	37	13	96205036	96205036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:96205036C>T	uc001vmh.2	+	1	90	c.29C>T	c.(28-30)GCC>GTC	p.A10V	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	10	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGATCATCGCCTTCATGGTC	0.672		NA											13	18					0	0	0	0
PCK2	5106	broad.mit.edu	37	14	24566131	24566131	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24566131C>A	uc001wlt.2	+	2	192	c.60C>A	c.(58-60)GGC>GGA	p.G20G	NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.G32G|PCK2_uc001wls.2_Silent_p.G20G|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_Translation_Start_Site|PCK2_uc010ale.2_Translation_Start_Site|PCK2_uc010tnx.1_Translation_Start_Site|PCK2_uc001wlu.3_Translation_Start_Site	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	20					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		GCCCCTTGGGCTGGCCATCAT	0.567		NA											28	115					2.8e-10	7.63e-10	1	0
NFATC4	4776	broad.mit.edu	37	14	24845916	24845916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24845916C>T	uc001wpc.2	+	9	2794	c.2473C>T	c.(2473-2475)CCC>TCC	p.P825S	NFATC4_uc010tok.1_Missense_Mutation_p.P888S|NFATC4_uc010tol.1_Missense_Mutation_p.P888S|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.P838S|NFATC4_uc010ton.1_Missense_Mutation_p.P838S|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.P857S|NFATC4_uc010top.1_Missense_Mutation_p.P857S|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.P755S|NFATC4_uc010tot.1_Missense_Mutation_p.P813S|NFATC4_uc010tou.1_Missense_Mutation_p.P755S|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.P813S|NFATC4_uc010tox.1_Missense_Mutation_p.P755S|NFATC4_uc001wpd.2_Missense_Mutation_p.P360S|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.P360S|NFATC4_uc010tpa.1_Missense_Mutation_p.P113S|NFATC4_uc010tpb.1_Missense_Mutation_p.P113S	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	825	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCTTGAAGGCCCCTTCCCTTC	0.642		NA											40	181					0	0	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872923	35872923	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:35872923G>A	uc001wtf.3	-	2	419	c.309C>T	c.(307-309)TTC>TTT	p.F103F	NFKBIA_uc001wte.3_Silent_p.F13F|NFKBIA_uc001wtg.3_Silent_p.F103F|NFKBIA_uc010amo.2_Intron	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	103	ANK 1.				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGAAGTTGAGGAAGGCCAGGT	0.582		NA											6	28					0	0	0	0
FSCB	84075	broad.mit.edu	37	14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:44975031G>A	uc001wvn.2	-	1	1469	c.1160C>T	c.(1159-1161)CCC>CTC	p.P387L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527		NA											33	111					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634140	70634140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:70634140G>A	uc001xly.2	-	2	1754	c.1000C>T	c.(1000-1002)CAG>TAG	p.Q334*	SLC8A3_uc001xlw.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlx.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlz.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	334	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCACCAGCTGATCTAAGTCC	0.522		NA											25	61					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035800	95035800	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:95035800G>A	uc001ydk.2	+	5	1218	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A	SERPINA4_uc010avd.2_Silent_p.A421A|SERPINA4_uc001ydl.2_Silent_p.A384A	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	384					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		CCAGCTTCGCGATCAAATTCT	0.547		NA											24	52					0	0	0	0
KLC1	3831	broad.mit.edu	37	14	104142025	104142025	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:104142025G>A	uc001yno.2	+	11	1620	c.1312_splice	c.e11-1	p.G438_splice	KLC1_uc010tyd.1_Splice_Site_p.G597_splice|KLC1_uc010tye.1_Splice_Site_p.G434_splice|KLC1_uc001ynm.1_Splice_Site_p.G438_splice|KLC1_uc001ynn.1_Splice_Site_p.G432_splice|KLC1_uc010tyf.1_Splice_Site_p.G438_splice|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATAATTTAGGGAAAGCAAA	0.328		NA											9	39					0	0	0	0
PACS2	23241	broad.mit.edu	37	14	105843172	105843172	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:105843172A>T	uc001yqt.2	+	9	1044	c.869A>T	c.(868-870)TAT>TTT	p.Y290F	PACS2_uc001yqs.2_Missense_Mutation_p.Y215F|PACS2_uc001yqv.2_Missense_Mutation_p.Y290F|PACS2_uc001yqu.2_Missense_Mutation_p.Y290F	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GACCTCCTGTATGACACCCTG	0.667		NA											23	38					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34105687	34105687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34105687C>T	uc001zhi.2	+	74	10479	c.10409C>T	c.(10408-10410)TCC>TTC	p.S3470F	RYR3_uc010bar.2_Missense_Mutation_p.S3465F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3470					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTGAGGTCCAAGAAGGCC	0.532		NA											29	113					0	0	0	0
C15orf55	256646	broad.mit.edu	37	15	34649146	34649146	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34649146G>A	uc001zif.2	+	7	3008	c.2853G>A	c.(2851-2853)GAG>GAA	p.E951E	C15orf55_uc010ucc.1_Silent_p.E979E|C15orf55_uc010ucd.1_Silent_p.E969E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	951						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTTTACAAGAGAGTCAGGAGT	0.502		NA	T	BRD3|BRD4	lethal midline carcinoma								9	56					0	0	0	0
ACTC1	70	broad.mit.edu	37	15	35082673	35082673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:35082673C>G	uc001ziu.1	-	7	1317	c.1074G>C	c.(1072-1074)TGG>TGC	p.W358C	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	358					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTTGCTAATCCACATTTGCT	0.502		NA											41	91					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43819190	43819190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43819190C>A	uc001zrt.2	+	4	5986	c.5519C>A	c.(5518-5520)GCT>GAT	p.A1840D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1840						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCATGGCTGGCTGACATCCCA	0.612		NA											21	56					1.87e-06	4.97e-06	1	0
CATSPER2	117155	broad.mit.edu	37	15	43927989	43927989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43927989C>T	uc001zsh.2	-	9	1272	c.1057G>A	c.(1057-1059)GAG>AAG	p.E353K	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.E353K|CATSPER2_uc001zsj.2_Missense_Mutation_p.E353K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	353	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCATCTCCTCATTCAGCTCT	0.502		NA											16	43					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54306178	54306178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:54306178G>A	uc002ack.2	+	1	1078	c.1078G>A	c.(1078-1080)GCT>ACT	p.A360T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	360					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATTTGCTCAGAGGAT	0.378		NA											12	31					0	0	0	0
LARP6	55323	broad.mit.edu	37	15	71124454	71124454	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:71124454C>A	uc002ass.2	-	3	1484	c.1413G>T	c.(1411-1413)TTG>TTT	p.L471F		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	471					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						GACCCCTGGGCAACCTCAGCA	0.547		NA											25	91					2.42e-17	6.72e-17	1	0
KIAA1199	57214	broad.mit.edu	37	15	81230170	81230170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81230170G>A	uc002bfw.1	+	24	3517	c.3257G>A	c.(3256-3258)CGA>CAA	p.R1086Q	KIAA1199_uc010unn.1_Missense_Mutation_p.R1086Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1086										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGCTACCCGCGAGGCACCACA	0.572		NA											37	91					0	0	0	0
TMC3	342125	broad.mit.edu	37	15	81648086	81648086	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81648086C>G	uc002bgo.1	-	9	915	c.915G>C	c.(913-915)GAG>GAC	p.E305D	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.E305D	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	305	Extracellular (Potential).					integral to membrane				ovary(1)|liver(1)	2						TTTTCTTTTTCTCCTGTTCTT	0.284		NA											14	44					0	0	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447334	101447334	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101447334G>T	uc002bwn.3	+	11	1346	c.1242G>T	c.(1240-1242)GGG>GGT	p.G414G	ALDH1A3_uc010bpb.2_Silent_p.G307G|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	414					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGATTTTCGGGCCAGTGCAAC	0.398		NA											10	42					0.000442599	0.00111477	1	0
ALDH1A3	220	broad.mit.edu	37	15	101448628	101448628	+	Silent	SNP	C	C	T	rs145659258		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101448628C>T	uc002bwn.3	+	12	1511	c.1407C>T	c.(1405-1407)AAC>AAT	p.N469N	ALDH1A3_uc010bpb.2_Silent_p.N362N|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	469					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACTGCTACAACGCCCTCTATG	0.512		NA											10	37					0	0	0	0
STUB1	10273	broad.mit.edu	37	16	732456	732456	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:732456C>T	uc002cit.2	+	7	1290	c.879C>T	c.(877-879)TTC>TTT	p.F293F	STUB1_uc002ciu.2_Silent_p.F221F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	293	U-box.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				TTGACGCATTCATCTCTGAGA	0.607		NA											26	108					0	0	0	0
JMJD8	339123	broad.mit.edu	37	16	733066	733066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:733066C>T	uc002ciw.1	-	8	721	c.664G>A	c.(664-666)GAG>AAG	p.E222K	JMJD8_uc002cix.1_Missense_Mutation_p.E222K|JMJD8_uc002ciy.1_Missense_Mutation_p.E192K	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	jumonji domain containing 8	271	JmjC.									breast(1)	1						GGCGTCTTCTCAGGTGGGTAA	0.637		NA											28	89					0	0	0	0
TMEM159	57146	broad.mit.edu	37	16	21181823	21181823	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21181823C>T	uc002dif.3	+	3	523	c.162C>T	c.(160-162)ACC>ACT	p.T54T	TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Silent_p.T78T|TMEM159_uc002dih.3_Silent_p.T54T	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	54						integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)		TGGCCTTCACCTTGCTGGTGT	0.522		NA											38	124					0	0	0	0
ANKS4B	257629	broad.mit.edu	37	16	21262063	21262063	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21262063G>A	uc010bwp.1	+	2	1219	c.1176G>A	c.(1174-1176)AGG>AGA	p.R392R	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	392	SAM.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		TGGGTCCCAGGAAGAAAGTTC	0.512		NA											26	99					0	0	0	0
ZNF48	197407	broad.mit.edu	37	16	30409298	30409298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30409298C>T	uc002dya.1	+	2	786	c.727C>T	c.(727-729)CGG>TGG	p.R243W	ZNF48_uc002dxz.1_Missense_Mutation_p.R120W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCGGACACACCGGGGGGAGCA	0.647		NA											10	61					0	0	0	0
ZNF629	23361	broad.mit.edu	37	16	30793311	30793311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30793311G>A	uc002dzs.1	-	3	2546	c.2338C>T	c.(2338-2340)CGC>TGC	p.R780C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGGGCCACGCGGTCGAGGAAG	0.647		NA											44	145					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:51171359G>A	uc010vgs.1	-	3	3670	c.3639C>T	c.(3637-3639)TTC>TTT	p.F1213F	SALL1_uc010vgr.1_Silent_p.F1116F|SALL1_uc010cbv.2_Silent_p.F65F	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567		NA											13	48					0	0	0	0
TOX3	27324	broad.mit.edu	37	16	52484290	52484290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:52484290C>T	uc002egw.2	-	4	748	c.577G>A	c.(577-579)GCC>ACC	p.A193T	TOX3_uc010vgt.1_Missense_Mutation_p.A188T|TOX3_uc010vgu.1_Missense_Mutation_p.A193T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	193					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						GGCATACTGGCACCTCCCAAA	0.567		NA											36	122					0	0	0	0
CDH3	1001	broad.mit.edu	37	16	68721545	68721545	+	Silent	SNP	C	C	T	rs140790125	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:68721545C>T	uc002ewf.2	+	12	2833	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	CDH3_uc010vli.1_Silent_p.I512I	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	567	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCTGAACATCACGGACAAGG	0.562		NA											25	70					0	0	0	0
MLKL	197259	broad.mit.edu	37	16	74719469	74719469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:74719469C>G	uc002fdb.2	-	5	1176	c.735G>C	c.(733-735)CAG>CAC	p.Q245H	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	245	Protein kinase.						ATP binding|protein binding|protein kinase activity			stomach(2)	2						TATTGAAAGTCTGCCTCACTA	0.313		NA											3	23					0	0	0	0
JPH3	57338	broad.mit.edu	37	16	87636924	87636924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:87636924G>A	uc002fkd.2	+	1	426	c.172G>A	c.(172-174)GGC>AGC	p.G58S	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	58	Gly-rich.|Cytoplasmic (Potential).|MORN 2.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGGCCCAGCGGCAACACGTA	0.682		NA											9	27					0	0	0	0
ABR	29	broad.mit.edu	37	17	961286	961286	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:961286C>T	uc002fsd.2	-	12	1416	c.1306_splice	c.e12-1	p.S436_splice	ABR_uc002fse.2_Splice_Site_p.S390_splice|ABR_uc010vqg.1_Splice_Site_p.S218_splice|ABR_uc002fsg.2_Splice_Site_p.S399_splice|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGGTAACTCTGAAGAGAGG	0.463		NA											9	30					0	0	0	0
SMYD4	114826	broad.mit.edu	37	17	1704088	1704088	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:1704088T>C	uc002ftm.3	-	5	768	c.600A>G	c.(598-600)GAA>GAG	p.E200E	SMYD4_uc002ftn.1_Silent_p.E55E	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	200							zinc ion binding			skin(3)|kidney(2)	5						GACTGTCCTTTTCTTGCATCT	0.498		NA											48	164					0	0	0	0
XAF1	54739	broad.mit.edu	37	17	6665481	6665481	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:6665481A>G	uc002gdn.2	+	5	671	c.429A>G	c.(427-429)AGA>AGG	p.R143R	XAF1_uc002gdm.1_Silent_p.R83R|XAF1_uc002gdo.2_Silent_p.R124R|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	143					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CAGGGGAAAGAATTTCAGCTC	0.413		NA											9	21					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7579533G>A	uc002gim.2	-	4	348	c.154C>T	c.(154-156)CAA>TAA	p.Q52*	TP53_uc002gig.1_Nonsense_Mutation_p.Q52*|TP53_uc002gih.2_Nonsense_Mutation_p.Q52*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q52*|TP53_uc010cni.1_Nonsense_Mutation_p.Q52*|TP53_uc002gij.2_Nonsense_Mutation_p.Q52*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Q13*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q67*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	52	TADII.|Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.Q52*(6)|p.Q52>P*(1)|p.Q52H(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GTGAACCATTGTTCAATATCG	0.582		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			67	183					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10348460	10348460	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:10348460C>A	uc002gmn.2	-	37	5410	c.5299G>T	c.(5299-5301)GCC>TCC	p.A1767S	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1767	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCCATCATGGCAGCCTAGTTA	0.473		NA											53	159					3.46e-24	9.73e-24	1	0
NCOR1	9611	broad.mit.edu	37	17	15964844	15964844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:15964844C>G	uc002gpo.2	-	37	5992	c.5752G>C	c.(5752-5754)GAG>CAG	p.E1918Q	NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpm.2_Missense_Mutation_p.E438Q|NCOR1_uc010vwb.1_Missense_Mutation_p.E502Q|NCOR1_uc010coy.2_Missense_Mutation_p.E826Q|NCOR1_uc010vwc.1_Missense_Mutation_p.E728Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1918	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCTTAGCTCTTCCTCATAT	0.498		NA											59	192					0	0	0	0
RAI1	10743	broad.mit.edu	37	17	17700989	17700989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:17700989G>A	uc002grm.2	+	3	5196	c.4727G>A	c.(4726-4728)CGC>CAC	p.R1576H	RAI1_uc002grn.1_Missense_Mutation_p.R1576H	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1576						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGAAATCCGCCTCAAGTAC	0.637		NA											33	104					0	0	0	0
CPD	1362	broad.mit.edu	37	17	28706100	28706100	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:28706100C>G	uc002hfb.1	+	1	117	c.102C>G	c.(100-102)ATC>ATG	p.I34M	CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	34	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CGGCTCACATCAAGAAGGCGG	0.706		NA											3	5					0	0	0	0
NEUROD2	4761	broad.mit.edu	37	17	37761719	37761719	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:37761719C>A	uc002hry.2	-	2	1334	c.1134G>T	c.(1132-1134)GCG>GCT	p.A378A		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	378					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TATGAAAAAACGCATTGAGCT	0.612		NA											6	15					0.00198382	0.00495635	1	0
THRA	7067	broad.mit.edu	37	17	38245491	38245491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:38245491G>C	uc002htw.2	+	9	1498	c.1015G>C	c.(1015-1017)GAG>CAG	p.E339Q	THRA_uc010cwp.1_Missense_Mutation_p.E339Q|THRA_uc002htv.2_Missense_Mutation_p.E339Q|THRA_uc002htx.2_Missense_Mutation_p.E339Q	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	339	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGACAAGATCGAGAAGAGTCA	0.393		NA											23	116					0	0	0	0
PSME3	10197	broad.mit.edu	37	17	40986892	40986892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:40986892G>A	uc002ibr.2	+	4	468	c.242G>A	c.(241-243)GGT>GAT	p.G81D	PSME3_uc002ibp.2_Missense_Mutation_p.G20D|PSME3_uc002ibq.2_Missense_Mutation_p.G81D|PSME3_uc002ibs.2_Missense_Mutation_p.G92D|PSME3_uc010whd.1_Missense_Mutation_p.V6I	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTGGATGGTGTAAGTGTC	0.443		NA											14	50					0	0	0	0
AOC3	8639	broad.mit.edu	37	17	41006513	41006513	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:41006513C>A	uc002ibv.2	+	2	1809	c.1649C>A	c.(1648-1650)GCT>GAT	p.A550D		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	550	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCCCATGGCTGTGCCCTGG	0.662		NA											17	48					8.01e-06	2.09e-05	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891362	2891362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:2891362G>A	uc002kln.2	+	4	1396	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	413					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		CAAGACATTGGACCAGAAAAT	0.473		NA											9	45					0	0	0	0
WDR7	23335	broad.mit.edu	37	18	54423844	54423844	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:54423844C>T	uc002lgk.1	+	15	2231	c.2020C>T	c.(2020-2022)CTG>TTG	p.L674L	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.L674L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	674										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TCATAACTCCCTGATGGTTCA	0.299		NA											16	64					0	0	0	0
PIAS4	51588	broad.mit.edu	37	19	4037462	4037462	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:4037462G>A	uc002lzg.2	+	10	1243	c.1233G>A	c.(1231-1233)AAG>AAA	p.K411K		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	411					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGAAAAGGAGCGCAGCT	0.687		NA											8	31					0	0	0	0
TMEM146	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:5733907C>T	uc002mda.2	+	5	378	c.317C>T	c.(316-318)TCG>TTG	p.S106L	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	106	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTTGCTGGTTCGTTATTGCTG	0.313		NA											10	40					0	0	0	0
CD209	30835	broad.mit.edu	37	19	7809868	7809868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:7809868C>T	uc002mht.2	-	5	926	c.859G>A	c.(859-861)GTG>ATG	p.V287M	CD209_uc010xju.1_Missense_Mutation_p.V126M|CD209_uc010dvp.2_Missense_Mutation_p.V263M|CD209_uc002mhr.2_Missense_Mutation_p.V263M|CD209_uc002mhs.2_Missense_Mutation_p.V217M|CD209_uc002mhu.2_Missense_Mutation_p.V195M|CD209_uc010dvq.2_Missense_Mutation_p.V287M|CD209_uc002mhq.2_Missense_Mutation_p.V287M|CD209_uc002mhv.2_Missense_Mutation_p.V263M|CD209_uc002mhx.2_Missense_Mutation_p.V243M|CD209_uc002mhw.2_Missense_Mutation_p.V151M|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	287	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TGGGCCCCCACTTCTTTGCAG	0.587		NA											17	80					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9061995	9061995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:9061995G>A	uc002mkp.2	-	3	25655	c.25451C>T	c.(25450-25452)TCC>TTC	p.S8484F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8486	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATAATGGGGGAAGTAGAAAG	0.488		NA											70	205					0	0	0	0
RAVER1	125950	broad.mit.edu	37	19	10444126	10444126	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:10444126C>T	uc002moa.2	-	1	189	c.109G>A	c.(109-111)GAA>AAA	p.E37K		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	20						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCTTCGACTTCGGCCCCAGAC	0.692		NA											26	50					0	0	0	0
ZNF442	79973	broad.mit.edu	37	19	12474424	12474424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12474424C>G	uc002mtr.1	-	3	633	c.22G>C	c.(22-24)GAC>CAC	p.D8H	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TCACTTCTGTCTTCTCCCCCA	0.473		NA											22	99					0	0	0	0
ZNF799	90576	broad.mit.edu	37	19	12491594	12491594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12491594G>A	uc002mts.3	-	4	948	c.482C>T	c.(481-483)TCT>TTT	p.S161F				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	267	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TCTTAGACAAGAACTGTAATC	0.388		NA											27	83					0	0	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928082	13928082	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:13928082G>A	uc002mxh.1	+	7	1422	c.1233G>A	c.(1231-1233)GGG>GGA	p.G411G	ZSWIM4_uc010xng.1_Silent_p.G334G	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	411							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GATGGGTGGGGCACCCCCTGG	0.622		NA											29	72					0	0	0	0
MLL4	9757	broad.mit.edu	37	19	36228844	36228844	+	Splice_Site	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36228844G>C	uc010eei.2	+	36	7742	c.7742_splice	c.e36+1	p.R2581_splice		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTCTACAGGTGAGTGGGGT	0.612		NA											7	10					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40368526G>A	uc002omp.3	-	28	12830	c.12822C>T	c.(12820-12822)TAC>TAT	p.Y4274Y		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4274	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657		NA											6	80					0	0	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704316	40704316	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40704316C>T	uc002ona.2	+	2	1005	c.717C>T	c.(715-717)CTC>CTT	p.L239L	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	239	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						ACCACAACCTCGCAGACACGG	0.647		NA											14	44					0	0	0	0
AKT2	208	broad.mit.edu	37	19	40739814	40739814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40739814G>A	uc002onf.2	-	14	1673	c.1411C>T	c.(1411-1413)CCC>TCC	p.P471S	AKT2_uc010egs.2_Missense_Mutation_p.P428S|AKT2_uc010egt.2_Missense_Mutation_p.P409S|AKT2_uc010xvj.1_Missense_Mutation_p.P409S|AKT2_uc002one.2_Missense_Mutation_p.P367S	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	471	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			GAGAACTGGGGGAAGTGGGTC	0.642		NA	A		ovarian|pancreatic 								10	26					0	0	0	0
ZNF224	7767	broad.mit.edu	37	19	44611712	44611712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:44611712C>T	uc002oyh.1	+	6	1701	c.1399C>T	c.(1399-1401)CGG>TGG	p.R467W	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	467	C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				GAGCTTTAGTCGGGCCCCATG	0.438		NA											19	62					0	0	0	0
NOVA2	4858	broad.mit.edu	37	19	46443312	46443312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:46443312C>T	uc002pdv.2	-	4	1336	c.1288G>A	c.(1288-1290)GTG>ATG	p.V430M		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGTACTCCACCAACGTCTTG	0.662		NA											43	124					0	0	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374957	50374957	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:50374957C>T	uc002pql.3	-	4	1200	c.474G>A	c.(472-474)GAG>GAA	p.E158E	AKT1S1_uc002pqn.3_Silent_p.E158E|AKT1S1_uc002pqm.3_Silent_p.E158E	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	158					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding				0		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGGGGTCTCCTCGCTCAGGC	0.667		NA											26	72					0	0	0	0
SHANK1	50944	broad.mit.edu	37	19	51192464	51192464	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:51192464C>T	uc002psx.1	-	15	2056	c.2037G>A	c.(2035-2037)CGG>CGA	p.R679R	SHANK1_uc002psw.1_Silent_p.R63R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTTGGCCCCCCGGAGCACGA	0.612		NA											11	94					0	0	0	0
TMC4	147798	broad.mit.edu	37	19	54664964	54664964	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:54664964G>A	uc010erf.2	-	12	1870	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R294C|TMC4_uc002qdo.2_Missense_Mutation_p.R574C	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	580	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGAAGGTGCGGGCAGCCGGG	0.562		NA											8	19					0	0	0	0
ZNF211	10520	broad.mit.edu	37	19	58152875	58152875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:58152875T>C	uc002qpq.2	+	3	1201	c.1021T>C	c.(1021-1023)TAT>CAT	p.Y341H	ZNF211_uc010yhb.1_Missense_Mutation_p.Y345H|ZNF211_uc002qpp.2_Missense_Mutation_p.Y354H|ZNF211_uc002qpr.2_Missense_Mutation_p.Y405H|ZNF211_uc002qps.2_Missense_Mutation_p.Y406H|ZNF211_uc002qpt.2_Missense_Mutation_p.Y353H|ZNF211_uc010yhc.1_Missense_Mutation_p.Y353H|ZNF211_uc010yhd.1_Missense_Mutation_p.Y280H|ZNF211_uc010yhe.1_Missense_Mutation_p.Y332H	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	341	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCCTTATGAATGTGG	0.463		NA											17	56					0	0	0	0
NOL10	79954	broad.mit.edu	37	2	10729194	10729194	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:10729194A>T	uc002raq.2	-	19	1944	c.1819T>A	c.(1819-1821)TCT>ACT	p.S607T	NOL10_uc010yje.1_Missense_Mutation_p.S581T|NOL10_uc010yjf.1_Missense_Mutation_p.S557T|NOL10_uc002rap.2_Missense_Mutation_p.S557T	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	607						nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGTGGCAGAATCTTTGAAG	0.478		NA											65	80					0	0	0	0
HADHB	3032	broad.mit.edu	37	2	26500001	26500001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:26500001A>G	uc002rgz.2	+	7	666	c.415A>G	c.(415-417)ATC>GTC	p.I139V	HADHB_uc010ykv.1_Missense_Mutation_p.I117V|HADHB_uc010ykw.1_Missense_Mutation_p.I124V|HADHB_uc002rha.2_Missense_Mutation_p.I139V|HADHB_uc010ykx.1_Missense_Mutation_p.I65V	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	139					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTTGTATCTCTGCCAA	0.403		NA											14	19					0	0	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805805	31805805	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:31805805G>T	uc002rnw.1	-	2	237	c.166C>A	c.(166-168)CAG>AAG	p.Q56K		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	56					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCAGCTCCTGCAGGAACCAG	0.706		NA											22	13					1.18e-14	3.24e-14	1	0
MAP4K3	8491	broad.mit.edu	37	2	39494353	39494353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:39494353T>C	uc002rro.2	-	27	2100	c.2009A>G	c.(2008-2010)AAA>AGA	p.K670R	MAP4K3_uc002rrp.2_Missense_Mutation_p.K649R|MAP4K3_uc010yns.1_Missense_Mutation_p.K223R	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	670	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				CTGGCACCATTTGGTTTCAGG	0.313		NA											33	44					0	0	0	0
TET3	200424	broad.mit.edu	37	2	74328683	74328683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:74328683G>A	uc002skb.3	+	9	4363	c.4363G>A	c.(4363-4365)GAG>AAG	p.E1455K		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1455							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GGGATCCAGCGAGAAGCTGTT	0.652		NA											6	15					0	0	0	0
FAM176A	84141	broad.mit.edu	37	2	75720729	75720729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:75720729G>A	uc002sni.2	-	4	570	c.92C>T	c.(91-93)CCT>CTT	p.P31L	FAM176A_uc002snj.1_Missense_Mutation_p.P18L|FAM176A_uc002snk.1_Missense_Mutation_p.P31L	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	31	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						TGCTCGCTCAGGATTTTCTGG	0.517		NA											15	18					0	0	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881304	108881304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:108881304G>C	uc010ywo.1	+	6	645	c.645G>C	c.(643-645)AAG>AAC	p.K215N		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	215	PAPS.					cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AAATTGAGAAGATACTGAAGT	0.398		NA											6	29					0	0	0	0
NPHP1	4867	broad.mit.edu	37	2	110962526	110962526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:110962526C>A	uc002tfn.3	-	1	114	c.20G>T	c.(19-21)CGA>CTA	p.R7L	NPHP1_uc002tfm.3_Missense_Mutation_p.R7L|NPHP1_uc002tfl.3_Missense_Mutation_p.R7L|NPHP1_uc002tfo.3_Missense_Mutation_p.R7L|NPHP1_uc010ywx.1_Missense_Mutation_p.R7L|NPHP1_uc010fjv.1_Missense_Mutation_p.R7L|NPHP1_uc002tfp.2_Missense_Mutation_p.R7L	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	7	Potential.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						GAGAGGATCTCGCTGTCGTCT	0.662		NA											5	48					2.77e-08	7.46e-08	1	0
PLA2R1	22925	broad.mit.edu	37	2	160832579	160832579	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:160832579C>T	uc002ube.1	-	17	2802	c.2595G>A	c.(2593-2595)GCG>GCA	p.A865A	PLA2R1_uc010zcp.1_Silent_p.A865A|PLA2R1_uc002ubf.2_Silent_p.A865A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	865	Extracellular (Potential).|C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GTTCAAGTACCGCTTTTATTT	0.413		NA											26	43					0	0	0	0
UBR3	130507	broad.mit.edu	37	2	170917856	170917856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:170917856C>T	uc010zdi.1	+	35	4922	c.4922C>T	c.(4921-4923)TCC>TTC	p.S1641F	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.S462F|UBR3_uc002uft.3_Missense_Mutation_p.S498F|UBR3_uc010zdj.1_Missense_Mutation_p.S332F|UBR3_uc002ufu.3_Missense_Mutation_p.S147F	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1641					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TCTCCTGAATCCATGGAAAAA	0.368		NA											45	77					0	0	0	0
MYO3B	140469	broad.mit.edu	37	2	171243774	171243774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243774C>G	uc002ufy.2	+	14	1676	c.1533C>G	c.(1531-1533)ATC>ATG	p.I511M	MYO3B_uc002ufv.2_Missense_Mutation_p.I498M|MYO3B_uc010fqb.1_Missense_Mutation_p.I498M|MYO3B_uc002ufz.2_Missense_Mutation_p.I511M|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	511	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GGGCAAGAATCTCTGAATATC	0.428		NA											23	64					0	0	0	0
MYO3B	140469	broad.mit.edu	37	2	171243784	171243784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243784C>G	uc002ufy.2	+	14	1686	c.1543C>G	c.(1543-1545)CTC>GTC	p.L515V	MYO3B_uc002ufv.2_Missense_Mutation_p.L502V|MYO3B_uc010fqb.1_Missense_Mutation_p.L502V|MYO3B_uc002ufz.2_Missense_Mutation_p.L515V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	515	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CTCTGAATATCTCCTGGAAAA	0.413		NA											24	57					0	0	0	0
MAP2	4133	broad.mit.edu	37	2	210543343	210543343	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:210543343G>T	uc002vde.1	+	5	558	c.310G>T	c.(310-312)GCA>TCA	p.A104S	MAP2_uc002vdc.1_Missense_Mutation_p.A104S|MAP2_uc002vdd.1_Missense_Mutation_p.A104S|MAP2_uc002vdf.1_Missense_Mutation_p.A104S|MAP2_uc002vdg.1_Missense_Mutation_p.A104S|MAP2_uc002vdh.1_Missense_Mutation_p.A104S|MAP2_uc002vdi.1_Missense_Mutation_p.A104S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	104					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGCTGTAGCAGTCCTGAA	0.413		NA											30	44					3.17e-13	8.69e-13	1	0
DGKD	8527	broad.mit.edu	37	2	234354353	234354353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:234354353C>T	uc002vui.1	+	11	1291	c.1279C>T	c.(1279-1281)CAG>TAG	p.Q427*	DGKD_uc002vuj.1_Nonsense_Mutation_p.Q383*|DGKD_uc010fyh.1_Nonsense_Mutation_p.Q294*|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	427	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGACGACACCCAGCTCCCCCA	0.607		NA											28	40					0	0	0	0
HDAC4	9759	broad.mit.edu	37	2	240036972	240036972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:240036972G>A	uc002vyk.3	-	13	2345	c.1553C>T	c.(1552-1554)CCG>CTG	p.P518L	HDAC4_uc010fyz.1_Missense_Mutation_p.P513L|HDAC4_uc010zoa.1_Missense_Mutation_p.P518L|HDAC4_uc010fza.2_Missense_Mutation_p.P523L|HDAC4_uc010fyy.2_Missense_Mutation_p.P475L|HDAC4_uc010znz.1_Missense_Mutation_p.P401L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	518					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGCTCTCCGGCTGCCGGGC	0.652		NA											31	53					0	0	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433208	1433208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1433208G>A	uc002wfc.2	-	7	1663	c.715C>T	c.(715-717)CGG>TGG	p.R239W	NSFL1C_uc002wfd.2_Missense_Mutation_p.R128W|NSFL1C_uc002wfe.2_Missense_Mutation_p.R208W|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R5W	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	239	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						TCCTCGTCCCGATGGTCCTCC	0.572		NA											55	144					0	0	0	0
SIRPA	140885	broad.mit.edu	37	20	1895762	1895762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1895762G>A	uc002wfq.2	+	3	457	c.97G>A	c.(97-99)GAG>AAG	p.E33K	SIRPA_uc010zps.1_Intron|SIRPA_uc002wfr.2_Missense_Mutation_p.E33K|SIRPA_uc002wfs.2_Missense_Mutation_p.E33K|SIRPA_uc002wft.2_Missense_Mutation_p.E33K	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	33	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGTGAGGAGGAGCTGCAGGT	0.527		NA											11	15					0	0	0	0
CST1	1469	broad.mit.edu	37	20	23731395	23731395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:23731395C>T	uc002wtp.2	-	1	180	c.109G>A	c.(109-111)GCA>ACA	p.A37T		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	37						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTGAGGTCTGCGTTATAGATG	0.572		NA											10	50					0	0	0	0
C20orf152	140894	broad.mit.edu	37	20	34596243	34596243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:34596243A>G	uc002xes.1	+	9	1151	c.995A>G	c.(994-996)AAG>AGG	p.K332R	C20orf152_uc002xer.1_Missense_Mutation_p.K332R|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	332											0	Breast(12;0.00631)					GAAAGATTTAAGGAATTCCAG	0.408		NA											37	110					0	0	0	0
CHD6	84181	broad.mit.edu	37	20	40049688	40049688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:40049688G>A	uc002xka.1	-	31	5765	c.5587C>T	c.(5587-5589)CAC>TAC	p.H1863Y		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				tcatcACTGTGGTTCTGACTC	0.333		NA											20	72					0	0	0	0
C20orf165	128497	broad.mit.edu	37	20	44515635	44515635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:44515635G>A	uc002xqf.2	-	2	214	c.205C>T	c.(205-207)CAA>TAA	p.Q69*		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	69						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				CCCCTGGCTTGTGGCATTGCC	0.637		NA											45	170					0	0	0	0
GNAS	2778	broad.mit.edu	37	20	57429461	57429461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:57429461C>G	uc002xzw.2	+	1	1426	c.1141C>G	c.(1141-1143)CCT>GCT	p.P381A	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACGGATCCCCTGCCGCCGG	0.682		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			3	5					0	0	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598820	61598820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:61598820G>A	uc002yea.3	+	13	1463	c.1279G>A	c.(1279-1281)GTG>ATG	p.V427M	SLC17A9_uc002ydz.3_Missense_Mutation_p.V421M|SLC17A9_uc011aap.1_3'UTR	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	427					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						GGCTCAGAGGGTGGACCTGAG	0.617		NA											33	117					0	0	0	0
C20orf135	140701	broad.mit.edu	37	20	62493551	62493551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:62493551G>A	uc002ygx.1	+	1	986	c.658G>A	c.(658-660)GCC>ACC	p.A220T		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	220							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCAGCACGACGCCAACGCCAT	0.692		NA											12	20					0	0	0	0
LIPI	149998	broad.mit.edu	37	21	15561401	15561401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:15561401G>T	uc002yjm.2	-	2	459	c.449C>A	c.(448-450)ACC>AAC	p.T150N	LIPI_uc010gkw.1_Missense_Mutation_p.T83N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	129					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AACTTTTCTGGTGTTTTTAAC	0.328		NA											9	61					7.48e-07	1.99e-06	1	0
RNF160	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:30318479G>A	uc002ymr.2	-	20	3769	c.3756C>T	c.(3754-3756)TTC>TTT	p.F1252F		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1206							ligase activity|zinc ion binding				0						CCTACCAACTGAAAAGAAAAA	0.308		NA											17	98					0	0	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011425	34011425	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:34011425G>A	uc002yqh.2	-	31	3825	c.3825C>T	c.(3823-3825)TTC>TTT	p.F1275F	SYNJ1_uc011ads.1_Silent_p.F1189F|SYNJ1_uc002yqf.2_Silent_p.F1220F|SYNJ1_uc002yqg.2_Silent_p.F1189F|SYNJ1_uc002yqi.2_Silent_p.F1275F|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1236	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GTTCAGGAAGGAAAGTTGAAC	0.453		NA											22	88					0	0	0	0
AIFM3	150209	broad.mit.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:21332000G>A	uc002ztj.2	+	15	1512	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	AIFM3_uc002ztk.2_Missense_Mutation_p.A432T|AIFM3_uc002ztl.2_Missense_Mutation_p.A438T|AIFM3_uc011ahx.1_Missense_Mutation_p.A420T|AIFM3_uc002ztm.1_Missense_Mutation_p.A244T|LZTR1_uc002ztn.2_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	432					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617		NA											25	53					0	0	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:38823608C>T	uc003avs.1	-	2	627	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	KCNJ4_uc003avt.1_Missense_Mutation_p.R177Q	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	177	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642		NA											8	51					0	0	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:30713559C>G	uc003ceo.2	+	4	1266	c.884C>G	c.(883-885)TCA>TGA	p.S295*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	295	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GACATCTTCTCAGACATCAAT	0.493		NA											24	55					0	0	0	0
IGSF10	285313	broad.mit.edu	37	3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:151154847C>G	uc011bod.1	-	6	7502	c.7502G>C	c.(7501-7503)AGA>ACA	p.R2501T	IGSF10_uc011bob.1_Missense_Mutation_p.R528T|IGSF10_uc011boc.1_Missense_Mutation_p.R480T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2501	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393		NA											40	142					0	0	0	0
SMC4	10051	broad.mit.edu	37	3	160135570	160135570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:160135570G>A	uc003fdh.2	+	11	1610	c.1497G>A	c.(1495-1497)ATG>ATA	p.M499I	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M263I|SMC4_uc003fdi.2_Missense_Mutation_p.M474I|SMC4_uc003fdj.2_Missense_Mutation_p.M499I|SMC4_uc010hwd.2_Missense_Mutation_p.M499I|SMC4_uc003fdl.2_Missense_Mutation_p.M202I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	499	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTCAAAGATGGATGTAGCCC	0.378		NA											19	79					0	0	0	0
TLR6	10333	broad.mit.edu	37	4	38828928	38828928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:38828928G>C	uc003gtm.2	-	1	2233	c.2167C>G	c.(2167-2169)CTC>GTC	p.L723V	TLR6_uc010ifg.1_Missense_Mutation_p.L723V	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	723	TIR.|Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						TCATGAAAGAGATTGTGATGG	0.423		NA											54	132					0	0	0	0
GABRA4	2557	broad.mit.edu	37	4	46930480	46930480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:46930480C>T	uc003gxg.2	-	9	1566	c.1427G>A	c.(1426-1428)CGT>CAT	p.R476H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	476	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACACGTGACGAGTAGAAGC	0.483		NA											25	84					0	0	0	0
CEP135	9662	broad.mit.edu	37	4	56820513	56820513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:56820513C>G	uc003hbi.2	+	4	670	c.436C>G	c.(436-438)CAA>GAA	p.Q146E	CEP135_uc003hbh.1_Missense_Mutation_p.Q146E|CEP135_uc010igz.1_5'UTR	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	146	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCAACAACTTCAAGAAAAGAA	0.323		NA											21	48					0	0	0	0
LRIT3	345193	broad.mit.edu	37	4	110790844	110790844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:110790844G>A	uc003hzx.3	+	3	997	c.804G>A	c.(802-804)ATG>ATA	p.M268I	LRIT3_uc003hzw.3_Missense_Mutation_p.M130I	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	268	Ig-like.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTCCATAATGAGCTTGACAG	0.423		NA											23	116					0	0	0	0
TRIML1	339976	broad.mit.edu	37	4	189068147	189068147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:189068147G>T	uc003izm.1	+	6	1143	c.1028G>T	c.(1027-1029)TGG>TTG	p.W343L	TRIML1_uc003izn.1_Missense_Mutation_p.W67L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	343	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGACACTACTGGGAGGTGGAG	0.567		NA											14	85					0.000151284	0.00038798	1	0
PDZD2	23037	broad.mit.edu	37	5	32088220	32088220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:32088220G>A	uc003jhl.2	+	20	5054	c.4666G>A	c.(4666-4668)GAG>AAG	p.E1556K	PDZD2_uc003jhm.2_Missense_Mutation_p.E1556K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1556					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGGCGATGCTGAGGATTCTTC	0.542		NA											28	64					0	0	0	0
OSMR	9180	broad.mit.edu	37	5	38933124	38933124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:38933124C>T	uc003jln.1	+	18	2885	c.2518C>T	c.(2518-2520)CTC>TTC	p.L840F	OSMR_uc011cpj.1_Missense_Mutation_p.L44F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	840	Cytoplasmic (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					CTACCTTTATCTCCTTCCAAC	0.468		NA											37	137					0	0	0	0
PDE8B	8622	broad.mit.edu	37	5	76645309	76645309	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:76645309C>T	uc003kfa.2	+	8	987	c.942C>T	c.(940-942)CTC>CTT	p.L314L	PDE8B_uc003kfb.2_Silent_p.L294L|PDE8B_uc003kfc.2_Silent_p.L314L|PDE8B_uc003kfd.2_Intron|PDE8B_uc003kfe.2_Intron	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	314	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		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)		GAAAAGAACTCGCTGATCTGC	0.502		NA											22	68					0	0	0	0
IRF1	3659	broad.mit.edu	37	5	131819732	131819732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131819732C>T	uc003kxa.2	-	10	1123	c.889G>A	c.(889-891)GAT>AAT	p.D297N	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D297N	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	297					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TTCTTCAGATCTGTGAAGACA	0.582		NA											18	77					0	0	0	0
IRF1	3659	broad.mit.edu	37	5	131820066	131820066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820066C>G	uc003kxa.2	-	9	1075	c.841G>C	c.(841-843)GAC>CAC	p.D281H	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D281H	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	281					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGGCTGTCAATTTCTGGC	0.552		NA											19	99					0	0	0	0
IRF1	3659	broad.mit.edu	37	5	131820143	131820143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820143C>T	uc003kxa.2	-	9	998	c.764G>A	c.(763-765)GGG>GAG	p.G255E	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.G255E	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	255					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAGTAGGTACCCCTTCCCATC	0.552		NA											22	141					0	0	0	0
IRF1	3659	broad.mit.edu	37	5	131820153	131820153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820153C>T	uc003kxa.2	-	9	988	c.754G>A	c.(754-756)GAT>AAT	p.D252N	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D252N	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	252					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCTTCCCATCCACGTTTGTT	0.567		NA											23	146					0	0	0	0
PCDH12	51294	broad.mit.edu	37	5	141335106	141335106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:141335106G>A	uc003llx.2	-	1	3522	c.2311C>T	c.(2311-2313)CAG>TAG	p.Q771*		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	771	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCTTCTGAATGTGTTTC	0.587		NA											11	62					0	0	0	0
C5orf4	10826	broad.mit.edu	37	5	154214195	154214195	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:154214195G>A	uc003lvs.3	-	4	405	c.234C>T	c.(232-234)CTC>CTT	p.L78L	C5orf4_uc011dde.1_Silent_p.L55L	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	hypothetical protein LOC10826	78	Helical; (Potential).				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTATAAAGAAGAGGATCCACT	0.453		NA											13	40					0	0	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805750	169805750	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:169805750C>T	uc003maq.1	-	4	934	c.534G>A	c.(532-534)GTG>GTA	p.V178V	KCNIP1_uc003map.2_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	178	Helical; Name=2; (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GGTTGCTCTTCACCATGGCGA	0.627		NA											21	82					0	0	0	0
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176306459G>A	uc003mey.2	+	14	2525	c.2333G>A	c.(2332-2334)CGG>CAG	p.R778Q		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	778	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677		NA											28	118					0	0	0	0
MXD3	83463	broad.mit.edu	37	5	176734658	176734658	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176734658G>A	uc003mgb.2	-	6	1013	c.552C>T	c.(550-552)GCC>GCT	p.A184A	MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.P210L|MXD3_uc003mgc.2_Silent_p.A174A	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCTCGGCCTCACCCC	0.701		NA											18	59					0	0	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388333	26388333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:26388333C>T	uc003nhq.2	+	4	621	c.535C>T	c.(535-537)CTC>TTC	p.L179F	BTN2A2_uc011dkf.1_Missense_Mutation_p.L63F|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.L63F|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.L179F|BTN2A2_uc003nht.2_Missense_Mutation_p.L179F|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	179	Extracellular (Potential).|Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CCCAGAGCCCCTCACAGTGTG	0.582		NA											16	60					0	0	0	0
ZNF391	346157	broad.mit.edu	37	6	27368900	27368900	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:27368900T>C	uc003njf.1	+	3	1269	c.751T>C	c.(751-753)TGC>CGC	p.C251R		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	251	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						TCCCTATGAATGCAGTAAATG	0.438		NA											4	30					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28540086	28540086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:28540086G>A	uc003nlo.2	-	4	4198	c.3580C>T	c.(3580-3582)CCA>TCA	p.P1194S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1194					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						tcttttgatggaaaataaaat	0		NA											4	20					0	0	0	0
RXRB	6257	broad.mit.edu	37	6	33164363	33164363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:33164363G>A	uc003odb.2	-	5	1020	c.841C>T	c.(841-843)CGG>TGG	p.R281W	RXRB_uc003odc.2_Missense_Mutation_p.R281W|RXRB_uc003odd.2_Missense_Mutation_p.R185W|RXRB_uc011dqr.1_Missense_Mutation_p.R91W|RXRB_uc011dqs.1_Missense_Mutation_p.R164W|RXRB_uc003ode.1_Missense_Mutation_p.R145W|RXRB_uc011dqt.1_Missense_Mutation_p.R281W|RXRB_uc011dqu.1_Missense_Mutation_p.R185W	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	281	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCTTTCCCCGCTGACGCTCC	0.602		NA											11	67					0	0	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496436	34496436	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34496436C>T	uc003ojo.2	+	4	444	c.238C>T	c.(238-240)CTG>TTG	p.L80L	PACSIN1_uc003ojp.2_Silent_p.L80L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	80					endocytosis		protein kinase activity				0						GTATGGCAGCCTGGAGCGGGC	0.527		NA											37	131					0	0	0	0
SPDEF	25803	broad.mit.edu	37	6	34507170	34507170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34507170G>A	uc003ojq.1	-	5	1101	c.686C>T	c.(685-687)TCG>TTG	p.S229L	SPDEF_uc011dsq.1_Missense_Mutation_p.S213L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	229					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S229L(1)		skin(3)|ovary(1)|central_nervous_system(1)	5						CTCACTGGTCGAGGCTGGGTG	0.667		NA											22	109					0	0	0	0
ENPP4	22875	broad.mit.edu	37	6	46108043	46108043	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:46108043C>T	uc003oxy.2	+	2	982	c.723C>T	c.(721-723)ACC>ACT	p.T241T		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	241	Extracellular (Potential).					integral to membrane	hydrolase activity			ovary(3)|skin(1)	4						ATGGGATGACCCAGTGTTCTC	0.393		NA											18	62					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51921548	51921548	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:51921548G>A	uc003pah.1	-	18	1917	c.1641C>T	c.(1639-1641)TGC>TGT	p.C547C	PKHD1_uc003pai.2_Silent_p.C547C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	547	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTTCCAGTTTGCATTTTACTG	0.413		NA											24	82					0	0	0	0
EFHC1	114327	broad.mit.edu	37	6	52317592	52317592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:52317592C>T	uc003pap.3	+	4	895	c.680C>T	c.(679-681)TCA>TTA	p.S227L	EFHC1_uc011dwv.1_Missense_Mutation_p.S136L|EFHC1_uc011dww.1_Missense_Mutation_p.S208L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	227						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					GTCACCCCATCAGACTTTGAT	0.398		NA											22	88					0	0	0	0
BACH2	60468	broad.mit.edu	37	6	90660231	90660231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:90660231C>G	uc011eab.1	-	7	2403	c.1594G>C	c.(1594-1596)GGG>CGG	p.G532R	BACH2_uc003pnw.2_Missense_Mutation_p.G532R|BACH2_uc010kch.2_Missense_Mutation_p.G532R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	532						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCGCTCCCGTCCTCCGCG	0.622		NA											17	51					0	0	0	0
C6orf186	728464	broad.mit.edu	37	6	110567452	110567452	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:110567452G>A	uc010kdu.1	-	5	798	c.798C>T	c.(796-798)CTC>CTT	p.L266L	C6orf186_uc003pub.2_Silent_p.L69L	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	266						extracellular region					0						GATCTGCCTTGAGAACGTCAA	0.373		NA											10	28					0	0	0	0
REV3L	5980	broad.mit.edu	37	6	111693797	111693797	+	Splice_Site	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:111693797A>G	uc003puy.3	-	13	6082	c.5759_splice	c.e13+1	p.R1920_splice	REV3L_uc003pux.3_Splice_Site_p.R1842_splice|REV3L_uc003puz.3_Splice_Site_p.R1842_splice	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATAACTGATTACCTGGGCTTT	0.348		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					18	67					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112506519C>T	uc003pvu.2	-	9	1306	c.997G>A	c.(997-999)GCC>ACC	p.A333T	LAMA4_uc003pvv.2_Missense_Mutation_p.A326T|LAMA4_uc003pvt.2_Missense_Mutation_p.A326T	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	333	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TTTCTTAGGGCGTATTGGTTT	0.358		NA											26	111					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112508752	112508752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112508752A>G	uc003pvu.2	-	8	1175	c.866T>C	c.(865-867)CTC>CCC	p.L289P	LAMA4_uc003pvv.2_Missense_Mutation_p.L282P|LAMA4_uc003pvt.2_Missense_Mutation_p.L282P	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	289	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		CTCGATGGAGAGCGCTGCTAA	0.527		NA											10	33					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938138	116938138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:116938138C>T	uc003pxe.2	+	1	497	c.352C>T	c.(352-354)CCT>TCT	p.P118S	RSPH4A_uc010kee.2_Missense_Mutation_p.P118S	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	118					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GAGTGTGATTCCTGAAGCTGG	0.537		NA							Kartagener_syndrome				23	78					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117709162	117709162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:117709162C>T	uc003pxp.1	-	13	1994	c.1795G>A	c.(1795-1797)GAA>AAA	p.E599K	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	599	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCCTAATTCAAAGAGTTCA	0.438		NA	T	GOPC|ROS1	glioblastoma|NSCLC								31	86					0	0	0	0
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:123332247C>T	uc003pzi.1	+	3	1376	c.507C>T	c.(505-507)TTC>TTT	p.F169F		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACTTCACTTTCAAGCAAGCCT	0.413		NA											14	75					0	0	0	0
KIF25	3834	broad.mit.edu	37	6	168434601	168434601	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:168434601C>T	uc003qwk.1	+	4	469	c.207C>T	c.(205-207)AGC>AGT	p.S69S	KIF25_uc003qwl.1_Silent_p.S69S	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	69	Kinesin-motor.|ATP (By similarity).				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGACGGGCAGCGGAAAGAGCT	0.517		NA											15	62					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33296932	33296932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:33296932C>T	uc003tdn.1	+	6	1040	c.527C>T	c.(526-528)CCT>CTT	p.P176L	BBS9_uc003tdo.1_Missense_Mutation_p.P176L|BBS9_uc003tdp.1_Missense_Mutation_p.P176L|BBS9_uc003tdq.1_Missense_Mutation_p.P176L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.P176L|BBS9_uc011kao.1_Missense_Mutation_p.P54L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	176					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AGATTTCTCCCTGGCTTTCTT	0.433		NA							Bardet-Biedl_syndrome				19	46					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:55221821G>A	uc003tqk.2	+	7	1111	c.865G>A	c.(865-867)GCC>ACC	p.A289T	EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	289	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	51					0	0	0	0
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:65439597G>A	uc003tun.2	-	7	1236	c.1160C>T	c.(1159-1161)CCC>CTC	p.P387L	GUSB_uc011kdt.1_Missense_Mutation_p.P241L	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						CTCTGCATAGGGGTAGTGGCT	0.597		NA											19	59					0	0	0	0
PION	54103	broad.mit.edu	37	7	76950665	76950665	+	Missense_Mutation	SNP	G	G	A	rs6950836		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:76950665G>A	uc003ugf.2	-	25	2058	c.1979C>T	c.(1978-1980)TCC>TTC	p.S660F	PION_uc011kgo.1_Intron|PION_uc003ugd.2_Missense_Mutation_p.S54F	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	660					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						GAGAACCCAGGAATGAAGATT	0.423		NA											5	21					0	0	0	0
GNAT3	346562	broad.mit.edu	37	7	80141221	80141221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:80141221C>T	uc011kgu.1	-	1	22	c.22G>A	c.(22-24)GAG>AAG	p.E8K	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	8					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCCTTGCTCTCTGAACTAATT	0.418		NA											9	18					0	0	0	0
OCM2	4951	broad.mit.edu	37	7	97617811	97617811	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:97617811G>A	uc003upc.2	-	2	111	c.111C>T	c.(109-111)TCC>TCT	p.S37S		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	37							calcium ion binding				0						CTGACATCTTGGAGAGGCCTG	0.458		NA											42	128					0	0	0	0
PDAP1	11333	broad.mit.edu	37	7	99001128	99001128	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:99001128C>T	uc003uqe.2	-	3	227	c.106G>A	c.(106-108)GAA>AAA	p.E36K		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCCTCTTCTTCCTGTTTCAGA	0.453		NA											18	72					0	0	0	0
GNB2	2783	broad.mit.edu	37	7	100276155	100276155	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100276155C>T	uc003uwb.2	+	9	1107	c.834C>T	c.(832-834)TTC>TTT	p.F278F	GNB2_uc003uwc.2_Silent_p.F234F|GNB2_uc010lhd.2_Silent_p.F234F|GNB2_uc010lhe.2_Silent_p.F234F|GNB2_uc003uwd.2_Silent_p.F178F|GNB2_uc010lhf.2_Silent_p.F178F|GNB2_uc003uwe.2_Silent_p.F278F|GNB2_uc003uwf.2_Silent_p.F178F	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	278	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTGTTGCCTTCTCGCGCAGCG	0.622		NA											19	48					0	0	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280033	100280033	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100280033C>T	uc003uwg.1	-	21	3682	c.2673G>A	c.(2671-2673)CTG>CTA	p.L891L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	891										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCCTGCAGCAGCTTCAGCA	0.637		NA											8	42					0	0	0	0
CUX1	1523	broad.mit.edu	37	7	101559408	101559408	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:101559408C>A	uc003uyx.3	+	2	82	c.44C>A	c.(43-45)GCC>GAC	p.A15D	CUX1_uc003uys.3_Missense_Mutation_p.A26D|CUX1_uc003uyt.2_Missense_Mutation_p.A26D|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Missense_Mutation_p.A26D|CUX1_uc003uyv.2_Missense_Mutation_p.A26D|CUX1_uc003uyu.2_Missense_Mutation_p.A26D	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	15	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAACTCGATGCCACCGCAACG	0.498		NA											39	146					1.15e-24	3.24e-24	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117375087	117375087	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:117375087G>A	uc003vjf.2	-	16	3848	c.3756C>T	c.(3754-3756)GCC>GCT	p.A1252A		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1252										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAGACAGGCCTTGGCGA	0.537		NA											6	45					0	0	0	0
LRRC4	64101	broad.mit.edu	37	7	127669962	127669962	+	Silent	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127669962G>C	uc003vmk.2	-	2	869	c.732C>G	c.(730-732)CTC>CTG	p.L244L	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	244	Extracellular (Potential).|LRR 8.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572		NA											17	40					0	0	0	0
LRRC4	64101	broad.mit.edu	37	7	127670131	127670131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670131G>C	uc003vmk.2	-	2	700	c.563C>G	c.(562-564)TCT>TGT	p.S188C	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	188	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AGCTCCCTCAGAGATATACTC	0.557		NA											14	57					0	0	0	0
LRRC4	64101	broad.mit.edu	37	7	127670193	127670193	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670193G>A	uc003vmk.2	-	2	638	c.501C>T	c.(499-501)TTC>TTT	p.F167F	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	167	LRR 4.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCACCCGGTTGAAGGCGTAAG	0.572		NA											20	79					0	0	0	0
JHDM1D	80853	broad.mit.edu	37	7	139801957	139801957	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:139801957C>T	uc003vvm.2	-	12	1436	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	478					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TTGCCGTTTTCCTCCTTTAAG	0.348		NA											25	62					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112633	148112633	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148112633G>A	uc003weu.1	+	24	4437	c.3921G>A	c.(3919-3921)GCG>GCA	p.A1307A	CNTNAP2_uc003wev.1_Silent_p.A84A	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1307	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGAGAGCGCGGACGCCGCCA	0.552		NA								HNSCC(39;0.1)			15	58					0	0	0	0
EZH2	2146	broad.mit.edu	37	7	148515125	148515125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148515125G>A	uc003wfd.1	-	10	1235	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	EZH2_uc011kug.1_Missense_Mutation_p.R348W|EZH2_uc003wfb.1_Missense_Mutation_p.R362W|EZH2_uc003wfc.1_Missense_Mutation_p.R318W|EZH2_uc011kuh.1_Missense_Mutation_p.R348W|EZH2_uc011kui.1_Missense_Mutation_p.R357W|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	357					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGGGAAGCCGTCCTCTTCTG	0.537		NA	Mis		DLBCL								25	104					0	0	0	0
DEFA4	1669	broad.mit.edu	37	8	6794389	6794389	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:6794389G>T	uc003wqu.1	-	2	84	c.33C>A	c.(31-33)CTC>CTA	p.L11L		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCTACCAAGAGAATAGCAG	0.602		NA											8	37					0.000157383	0.000401626	1	0
SH2D4A	63898	broad.mit.edu	37	8	19231062	19231062	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19231062A>G	uc003wzb.2	+	8	1275	c.939A>G	c.(937-939)ACA>ACG	p.T313T	SH2D4A_uc011kym.1_Silent_p.T268T|SH2D4A_uc003wzc.2_Silent_p.T313T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	313						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		TGGTGAGGACACTGTCCAGCT	0.408		NA											10	28					0	0	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362961	19362961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19362961C>A	uc011kyn.1	-	4	1449	c.385G>T	c.(385-387)GAC>TAC	p.D129Y	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D129Y|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D128Y|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	129	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TCTGCCTTGTCCACCTGCGAG	0.597		NA											25	73					3.65e-15	1.01e-14	1	0
PTK2B	2185	broad.mit.edu	37	8	27289833	27289833	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:27289833G>A	uc003xfn.1	+	15	1750	c.942G>A	c.(940-942)GAG>GAA	p.E314E	PTK2B_uc003xfo.1_Silent_p.E314E|PTK2B_uc003xfp.1_Silent_p.E314E|PTK2B_uc003xfq.1_Silent_p.E314E|PTK2B_uc010luq.1_Silent_p.E85E|PTK2B_uc003xfr.1_Silent_p.E60E	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	314	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCGCTGGAGGAGGGCCAGG	0.622		NA											7	28					0	0	0	0
PROSC	11212	broad.mit.edu	37	8	37623261	37623261	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37623261C>A	uc003xkh.2	+	3	317	c.240C>A	c.(238-240)CCC>CCA	p.P80P		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	80							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CATCAAATCCCAAAGTAAGTA	0.383		NA											6	222					0.00116845	0.00292395	1	0
ADRB3	155	broad.mit.edu	37	8	37823854	37823854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37823854G>A	uc003xkr.1	-	1	331	c.134C>T	c.(133-135)GCG>GTG	p.A45V		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	45	Helical; Name=1; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CACCGCCAGCGCCAGCAGGGC	0.697		NA											8	22					0	0	0	0
MATN2	4147	broad.mit.edu	37	8	99039681	99039681	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:99039681C>T	uc003yic.2	+	14	2211	c.1980C>T	c.(1978-1980)ATC>ATT	p.I660I	MATN2_uc010mbh.1_Silent_p.I619I|MATN2_uc003yid.2_Silent_p.I660I|MATN2_uc003yie.1_Silent_p.I660I|MATN2_uc010mbi.1_Silent_p.I493I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	660	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403		NA											26	85					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121267542	121267542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:121267542G>A	uc003yox.2	+	23	3081	c.2816G>A	c.(2815-2817)TGG>TAG	p.W939*	COL14A1_uc003yoy.2_Nonsense_Mutation_p.W617*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	939	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGCCCACTGGCAGGTACAT	0.438		NA											36	96					0	0	0	0
ARC	23237	broad.mit.edu	37	8	143695543	143695543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143695543C>G	uc003ywn.1	-	1	291	c.90G>C	c.(88-90)CAG>CAC	p.Q30H		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	30					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTTCCCGATCTGCAGGATCA	0.726		NA											4	19					0	0	0	0
JRK	8629	broad.mit.edu	37	8	143746149	143746149	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143746149C>T	uc003ywo.2	-	2	1843	c.1329G>A	c.(1327-1329)GCG>GCA	p.A443A	JRK_uc003ywp.2_Silent_p.A443A|JRK_uc010mew.1_Silent_p.A443A	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctcccttcccgctacccccc	0		NA											5	12					0	0	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297245	144297245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:144297245G>A	uc003yxu.1	+	4	482	c.407G>A	c.(406-408)TGC>TAC	p.C136Y		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	136	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGCCTGTGCAATGTCCCA	0.672		NA											22	65					0	0	0	0
FAM108B1	51104	broad.mit.edu	37	9	74489807	74489807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:74489807C>A	uc004aim.1	-	2	792	c.190G>T	c.(190-192)GAT>TAT	p.D64Y	FAM108B1_uc004ail.2_Missense_Mutation_p.D64Y	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	64						extracellular region	hydrolase activity				0						TCAATAGCATCTTTTTCTCTA	0.413		NA											7	70					5.18e-06	1.36e-05	1	0
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	T	rs148933240	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:126136903C>T	uc004bnx.1	+	11	3527	c.3435C>T	c.(3433-3435)CTC>CTT	p.L1145L		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1145	Extracellular (Potential).|EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TCACCTGCCTCGATGGCAGCC	0.657		NA											20	28					0	0	0	0
LAMC3	10319	broad.mit.edu	37	9	133932455	133932455	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:133932455G>A	uc004caa.1	+	12	2177	c.2079G>A	c.(2077-2079)AGG>AGA	p.R693R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	693	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GATACAAGAGGGAGATGCCAC	0.612		NA											23	67					0	0	0	0
NHS	4810	broad.mit.edu	37	X	17744773	17744773	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:17744773G>A	uc004cxx.2	+	6	2822	c.2484G>A	c.(2482-2484)CCG>CCA	p.P828P	NHS_uc011mix.1_Silent_p.P849P|NHS_uc004cxy.2_Silent_p.P672P|NHS_uc004cxz.2_Silent_p.P651P|NHS_uc004cya.2_Silent_p.P551P	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	828						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AGGCAAAGCCGACCCCACCTA	0.502		NA											29	141					0	0	0	0
SRPX	8406	broad.mit.edu	37	X	38009042	38009042	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:38009042G>A	uc004ddy.1	-	10	1403	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	SRPX_uc004ddz.1_Silent_p.F419F|SRPX_uc011mkh.1_Silent_p.F380F|SRPX_uc011mki.1_3'UTR	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	439					cell adhesion	cell surface|membrane					0						CAATCAGGTTGAACAGGGCCA	0.498		NA											18	48					0	0	0	0
MAOB	4129	broad.mit.edu	37	X	43652760	43652760	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:43652760C>A	uc004dfz.3	-	8	1010	c.834G>T	c.(832-834)CTG>CTT	p.L278L	MAOB_uc011mkx.1_Silent_p.L262L|MAOB_uc011mky.1_Silent_p.L262L	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	278	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATCATTGGCAGAGGGGGAT	0.413		NA											24	63					1.43e-11	3.89e-11	1	0
TFE3	7030	broad.mit.edu	37	X	48891046	48891046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:48891046C>T	uc004dmb.3	-	8	1308	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	TFE3_uc004dmc.3_Missense_Mutation_p.R252H|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	357	Basic motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						GAATCGCCTGCGACGCTCAAC	0.532		NA	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								22	47					0	0	0	0
ZXDB	158586	broad.mit.edu	37	X	57618953	57618953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:57618953G>A	uc004dvd.2	+	1	685	c.472G>A	c.(472-474)GCC>ACC	p.A158T		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						cccgatctccgcccccggccc	0.463		NA											6	15					0	0	0	0
EDA	1896	broad.mit.edu	37	X	69253319	69253320	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69253319_69253320CG>AA	uc004dxs.2	+	7	1107_1108	c.865_866CG>AA	c.(865-867)CGC>AAC	p.R289N	EDA_uc004dxr.2_Missense_Mutation_p.R289N|EDA_uc011mpj.1_Missense_Mutation_p.R286N	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	289	Extracellular (Potential).				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						GCTACATCCCCGCAGCGGGGAG	0.5		NA									OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	149					0	0	0	0
AWAT1	158833	broad.mit.edu	37	X	69458111	69458111	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69458111C>A	uc004dxy.2	+	5	551	c.510C>A	c.(508-510)GGC>GGA	p.G170G		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	170					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3						TGAGCCATGGCACTGGCAACC	0.542		NA											30	76					2.85e-18	7.95e-18	1	0
RGAG4	340526	broad.mit.edu	37	X	71351044	71351044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:71351044C>T	uc010nlh.1	-	1	708	c.347G>A	c.(346-348)GGG>GAG	p.G116E	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	116										ovary(2)|skin(1)	3	Renal(35;0.156)					GTCAGCGGGCCCGTCGGGGGT	0.697		NA											6	12					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76937979	76937979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76937979C>A	uc004ecp.3	-	9	3001	c.2769G>T	c.(2767-2769)AAG>AAT	p.K923N	ATRX_uc004ecq.3_Missense_Mutation_p.K885N|ATRX_uc004eco.3_Missense_Mutation_p.K708N|ATRX_uc004ecr.2_Missense_Mutation_p.K855N|ATRX_uc010nlx.1_Missense_Mutation_p.K894N|ATRX_uc010nly.1_Missense_Mutation_p.K868N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	923					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TCCCAGAAAGCTTATCGACAC	0.398		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						41	230					4.33e-17	1.2e-16	1	0
ATG4A	115201	broad.mit.edu	37	X	107377334	107377334	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:107377334A>C	uc004enr.2	+	5	463	c.340A>C	c.(340-342)ATC>CTC	p.I114L	ATG4A_uc004ent.2_Missense_Mutation_p.I114L|ATG4A_uc004ens.2_Missense_Mutation_p.I30L|ATG4A_uc011msl.1_Missense_Mutation_p.I30L|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.I30L	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	114					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						ATACCAACGCATCCTACAGTG	0.348		NA											14	21					0	0	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708626	108708626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:108708626C>G	uc004eod.3	-	3	1053	c.777G>C	c.(775-777)CAG>CAC	p.Q259H	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	259	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AGAGATGCATCTGAGTCTCTC	0.413		NA											44	127					0	0	0	0
WDR44	54521	broad.mit.edu	37	X	117526618	117526618	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:117526618G>C	uc004eqn.2	+	4	635	c.210G>C	c.(208-210)GAG>GAC	p.E70D	WDR44_uc004eqo.2_Missense_Mutation_p.E70D|WDR44_uc011mtr.1_Missense_Mutation_p.E45D|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	70	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TTATTGAGGAGAGTCAGAAAG	0.308		NA											19	65					0	0	0	0
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:122767863C>T	uc004etu.2	-	20	2109	c.2077G>A	c.(2077-2079)GAG>AAG	p.E693K	THOC2_uc011muh.1_Missense_Mutation_p.E618K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GTCATTTCCTCTGTAATTTCT	0.333		NA											18	87					0	0	0	0
L1CAM	3897	broad.mit.edu	37	X	153128177	153128177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:153128177C>T	uc004fjb.2	-	28	3823	c.3715G>A	c.(3715-3717)GGG>AGG	p.G1239R	L1CAM_uc004fjc.2_Missense_Mutation_p.G1235R|L1CAM_uc010nuo.2_Missense_Mutation_p.G1230R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1239	Cytoplasmic (Potential).		G -> E.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGCCCCCTGCCGCCTCC	0.602		NA											22	67					0	0	0	0
MTCP1NB	100272147	broad.mit.edu	37	X	154292277	154292277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:154292277G>A	uc004fmy.2	-	2	611	c.22C>T	c.(22-24)CAG>TAG	p.Q8*		NM_001018024	NP_001018024	P56277	MTCNB_HUMAN	mature T-cell proliferation 1 neighbor	8					cell proliferation	mitochondrion				lung(1)	1						GCTTGCTTCTGGCACGGATCC	0.328		NA											32	151					0	0	0	0
EPHA2	1969	broad.mit.edu	37	1	16475160	16475161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16475160_16475161insA	uc001aya.1	-	3	672_673	c.535_536insT	c.(535-537)TACfs	p.Y179fs	EPHA2_uc010oca.1_Frame_Shift_Ins_p.Y179fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	179	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAAGGCCAGGTAGAAGCCTTTG	0.644		NA											20	66	---	---	---	---	NA	NA	NA	NA
C1orf172	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27278782_27278783delAT	uc001bni.1	-	2	178_179	c.89_90delAT	c.(88-90)TATfs	p.Y30fs		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	30	Pro-rich.									large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629		NA											22	63	---	---	---	---	NA	NA	NA	NA
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46123891_46123892delAG	uc001ros.1	+	2	157_158	c.157_158delAG	c.(157-159)AGAfs	p.R53fs	ARID2_uc001ror.2_Frame_Shift_Del_p.R53fs|LOC400027_uc001roq.2_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53		NA											10	30	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49420671	49420672	+	Frame_Shift_Ins	INS	-	-	GGTA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420671_49420672insGGTA	uc001rta.3	-	48	15077_15078	c.15077_15078insTACC	c.(15076-15078)CCGfs	p.P5026fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5026					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCATGTCTCGCGGTACCTTGTC	0.624		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			17	88	---	---	---	---	NA	NA	NA	NA
ARGLU1	55082	broad.mit.edu	37	13	107219952	107219953	+	In_Frame_Ins	INS	-	-	CTC			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:107219952_107219953insCTC	uc001vqk.3	-	1	562_563	c.315_316insGAG	c.(313-318)insGAG	p.105_106insE		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105_106	Glu-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCGCTTTCTTCTCCTCCTCCT	0.46		NA											20	87	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7578267_7578268insAG	uc002gim.2	-	6	775_776	c.581_582insCT	c.(580-582)CTTfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L155fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.A189fs*53(1)|p.L194I(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CCACTCGGATAAGATGCTGAGG	0.554		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			20	47	---	---	---	---	NA	NA	NA	NA
GMIP	51291	broad.mit.edu	37	19	19744918	19744929	+	In_Frame_Del	DEL	CGGCGGCCGCAG	CGGCGGCCGCAG	-	rs144433615	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:19744918_19744929delCGGCGGCCGCAG	uc002nnd.2	-	19	2272_2283	c.2155_2166delCTGCGGCCGCCG	c.(2155-2166)CTGCGGCCGCCGdel	p.LRPP719del	GMIP_uc010xrb.1_In_Frame_Del_p.LRPP693del|GMIP_uc010xrc.1_In_Frame_Del_p.LRPP690del	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	719_722	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC	0.613		NA											9	68	---	---	---	---	NA	NA	NA	NA
MLL4	9757	broad.mit.edu	37	19	36218454	36218474	+	In_Frame_Del	DEL	GGGCCTGCGCCAGGTGCTCCA	GGGCCTGCGCCAGGTGCTCCA	-	rs34078597		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	uc010eei.2	+	17	4233_4253	c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	c.(4231-4254)GGGGGCCTGCGCCAGGTGCTCCAG>GGG	p.GLRQVLQ1412del		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1412_1418					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG	0.724		NA											17	86	---	---	---	---	NA	NA	NA	NA
CASP8	841	broad.mit.edu	37	2	202149546	202149551	+	In_Frame_Del	DEL	GACCAC	GACCAC	-	rs139337151		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:202149546_202149551delGACCAC	uc002uxr.1	+	9	1019_1024	c.810_815delGACCAC	c.(808-816)TTGACCACG>TTG	p.TT271del	CASP8_uc002uxp.1_In_Frame_Del_p.TT288del|CASP8_uc002uxq.1_In_Frame_Del_p.TT256del|CASP8_uc002uxt.1_In_Frame_Del_p.TT330del|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_In_Frame_Del_p.TT256del|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_In_Frame_Del_p.TT187del	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	271_272					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CAGGGGCTTTGACCACGACCTTTGAA	0.422		NA								HNSCC(4;0.00038)			16	34	---	---	---	---	NA	NA	NA	NA
DLGAP4	22839	broad.mit.edu	37	20	35075135	35075135	+	Frame_Shift_Del	DEL	G	G	-	rs112014857		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:35075135delG	uc002xff.2	+	7	1878	c.1443delG	c.(1441-1443)GCGfs	p.A481fs	DLGAP4_uc010zvp.1_Frame_Shift_Del_p.A481fs	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	481					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTATGAGGCGGCCTGCGAGT	0.632		NA											11	26	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187534466	187534467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187534466_187534467insG	uc003izf.2	-	13	9447_9448	c.9259_9260insC	c.(9259-9261)CGTfs	p.R3087fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3087	Extracellular (Potential).|Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGCTCCTCACGATCAAGGGGG	0.446		NA								HNSCC(5;0.00058)			20	74	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187539457	187539469	+	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	CTTCAGTCTCCCG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187539457_187539469delCTTCAGTCTCCCG	uc003izf.2	-	10	8459_8471	c.8271_8283delCGGGAGACTGAAG	c.(8269-8283)AGCGGGAGACTGAAGfs	p.S2757fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2757_2761	Extracellular (Potential).|Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT	0.465		NA								HNSCC(5;0.00058)			49	166	---	---	---	---	NA	NA	NA	NA
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:43970503_43970504insGCG	uc003own.2	+	4	387_388	c.369_370insGCG	c.(367-372)insGCG	p.132_133insA	uc003owm.1_Intron|C6orf223_uc003owo.2_In_Frame_Ins_p.112_113insA	NM_153246	NP_694978	Q8N319	CF223_HUMAN	hypothetical protein LOC221416	132_133	Ala-rich.										0	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.639		NA											8	10	---	---	---	---	NA	NA	NA	NA
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76920172_76920173insT	uc004ecp.3	-	11	4136_4137	c.3904_3905insA	c.(3904-3906)AGAfs	p.R1302fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.R1264fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.R1087fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.R1234fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTTCCAGTTCTTTTTTTCCCT	0.376		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						8	118	---	---	---	---	NA	NA	NA	NA
