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
PPIH	10465	broad.mit.edu	37	1	43124905	43124905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:43124905C>G	uc001chq.2	+	3	208	c.138C>G	c.(136-138)TTC>TTG	p.F46L	PPIH_uc009vwl.2_5'UTR	NM_006347	NP_006338	O43447	PPIH_HUMAN	peptidylprolyl isomerase H	46	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TCAGGCAGTTCTGCACCGGAG	0.483		NA											30	120					0	0	0	0
GPSM2	29899	broad.mit.edu	37	1	109465042	109465042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:109465042A>G	uc010ovc.1	+	13	1940	c.1444A>G	c.(1444-1446)ATC>GTC	p.I482V	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.I482V|GPSM2_uc010ove.1_Missense_Mutation_p.I482V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	482					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATTTTAGAAAATCAGTGCAGA	0.318		NA											16	19					0	0	0	0
KPRP	448834	broad.mit.edu	37	1	152732431	152732431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:152732431G>A	uc001fal.1	+	2	425	c.367G>A	c.(367-369)GAA>AAA	p.E123K		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCAGTGCGAAGCGTCACA	0.493		NA											57	116					0	0	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174671345	174671345	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:174671345A>T	uc001gjx.2	+	17	2315	c.2120A>T	c.(2119-2121)AAG>ATG	p.K707M	RABGAP1L_uc001gkb.3_Translation_Start_Site|RABGAP1L_uc001gkc.3_Missense_Mutation_p.K14M|RABGAP1L_uc001gkd.3_Missense_Mutation_p.K33M	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	707	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						TTTACTGCCAAGTTCCCACTC	0.428		NA											7	52					0	0	0	0
C1orf14	81626	broad.mit.edu	37	1	182909570	182909570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:182909570C>T	uc001gpu.2	-	3	949	c.664G>A	c.(664-666)GAG>AAG	p.E222K	C1orf14_uc001gpv.2_Missense_Mutation_p.E103K|C1orf14_uc010pnz.1_Missense_Mutation_p.E80K|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	294											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TCCAAAATCTCATCAACCAAA	0.403		NA											10	76					0	0	0	0
OR2L3	391192	broad.mit.edu	37	1	248224417	248224417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:248224417C>T	uc001idx.1	+	1	434	c.434C>T	c.(433-435)ACA>ATA	p.T145I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			CTGATGATAACAGGGTCTTGG	0.423		NA											11	124					0	0	0	0
C10orf67	256815	broad.mit.edu	37	10	23633575	23633575	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:23633575G>T	uc010qcx.1	-	1	198	c.132C>A	c.(130-132)ACC>ACA	p.T44T		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	hypothetical protein LOC256815	44											0						CCCGCAGCTCGGTGGCCTTGG	0.597		NA											3	5					0.004672	0.00939451	1	0
SGPL1	8879	broad.mit.edu	37	10	72636950	72636950	+	Splice_Site	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:72636950A>G	uc001jrm.2	+	15	1789	c.1567_splice	c.e15-2	p.G523_splice	SGPL1_uc009xqk.2_Splice_Site	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	TTGGATTTGTAGGGTGCCATC	0.483		NA											3	29					0	0	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407893	75407893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:75407893G>A	uc001jut.3	-	4	1669	c.1517C>T	c.(1516-1518)CCA>CTA	p.P506L	SYNPO2L_uc001jus.3_Missense_Mutation_p.P282L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	506	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GAAGGGGGGTGGGGCGGGGCT	0.677		NA											3	8					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1270883	1270883	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:1270883C>G	uc009ycr.1	+	51	14318	c.14192C>G	c.(14191-14193)ACT>AGT	p.T4731S	MUC5B_uc001ltb.2_Missense_Mutation_p.T4261S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4258	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACAGCCACTACGACTGCA	0.677		NA											4	63					0	0	0	0
CALCB	797	broad.mit.edu	37	11	15098881	15098881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:15098881C>T	uc001mlx.1	+	4	347	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CALCB_uc009ygr.1_Missense_Mutation_p.R92W	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	92					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0						TGTGACTCATCGGCTGGCAGG	0.567		NA											6	11					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136993	40136993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:40136993G>A	uc001mxa.1	-	2	2814	c.850C>T	c.(850-852)CAT>TAT	p.H284Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H280Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	284	LRR 9.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGGTCATGAGGCAGTAAT	0.443		NA											37	58					0	0	0	0
RAPSN	5913	broad.mit.edu	37	11	47464319	47464319	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:47464319G>C	uc001nfi.1	-	3	793	c.579C>G	c.(577-579)GTC>GTG	p.V193V	RAPSN_uc001nfj.1_Silent_p.V193V|RAPSN_uc009yls.1_Silent_p.V193V	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	193	TPR 4.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						CATAGTTGTTGACAAGCTCTG	0.612		NA											13	26					0	0	0	0
SORL1	6653	broad.mit.edu	37	11	121384941	121384941	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:121384941C>T	uc001pxx.2	+	8	1202	c.1122C>T	c.(1120-1122)ATC>ATT	p.I374I		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	374	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTATACATCTCAGAGGCAG	0.507		NA											6	75					0	0	0	0
GAPDH	2597	broad.mit.edu	37	12	6646508	6646508	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:6646508C>T	uc001qop.1	+	7	579	c.477C>T	c.(475-477)CCC>CCT	p.P159P	GAPDH_uc009zep.1_Silent_p.P117P|GAPDH_uc001qoq.1_Silent_p.P84P|GAPDH_uc001qor.1_Silent_p.P118P|GAPDH_uc001qos.1_Silent_p.P159P|GAPDH_uc001qot.1_Silent_p.P159P|GAPDH_uc001qou.1_Silent_p.P118P|GAPDH_uc001qov.1_Silent_p.P117P|GAPDH_uc001qow.1_Silent_p.P112P|GAPDH_uc001qox.1_5'UTR	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	159					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)	GCTTAGCACCCCTGGCCAAGG	0.577		NA											15	39					0	0	0	0
SOAT2	8435	broad.mit.edu	37	12	53516948	53516948	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:53516948C>T	uc001sbv.2	+	13	1408	c.1320C>T	c.(1318-1320)TTC>TTT	p.F440F	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	440	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						TCTTCTGCTTCGTCCTGGGGT	0.592		NA											14	37					0	0	0	0
RDH16	8608	broad.mit.edu	37	12	57351084	57351084	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:57351084G>T	uc001smi.3	-	1	335	c.163C>A	c.(163-165)CGG>AGG	p.R55R	RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_RNA	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	55	NAD (By similarity).|Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						GCCAGCACCCGCAAGCCTCGT	0.587		NA											10	33					1.09e-07	2.31e-07	1	0
NHLRC3	387921	broad.mit.edu	37	13	39618272	39618272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr13:39618272C>G	uc001uxc.2	+	5	954	c.632C>G	c.(631-633)GCT>GGT	p.A211G	NHLRC3_uc001uxb.1_Missense_Mutation_p.A211G|NHLRC3_uc001uxd.2_Missense_Mutation_p.A144G|NHLRC3_uc001uxe.2_Missense_Mutation_p.A14G	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	211	NHL 3.					extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACAGGGCCTGCTAAGTTCAAC	0.383		NA											69	80					0	0	0	0
OR4K17	390436	broad.mit.edu	37	14	20585923	20585923	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20585923C>G	uc001vwo.1	+	1	358	c.358C>G	c.(358-360)CAG>GAG	p.Q120E		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTTAAAAAAGCAGAAGGTAAT	0.413		NA											45	78					0	0	0	0
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20692287G>A	uc010tlc.1	+	1	419	c.419G>A	c.(418-420)CGG>CAG	p.R140Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428		NA											10	81					0	0	0	0
SPATA7	55812	broad.mit.edu	37	14	88892892	88892892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:88892892C>G	uc001xwq.2	+	6	840	c.689C>G	c.(688-690)TCT>TGT	p.S230C	SPATA7_uc001xwr.2_Missense_Mutation_p.S198C|SPATA7_uc001xws.2_Missense_Mutation_p.S166C|SPATA7_uc001xwt.2_Missense_Mutation_p.S124C|SPATA7_uc001xwu.2_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	230					response to stimulus|visual perception					ovary(1)	1						GATAAACATTCTGAACTCTTT	0.428		NA											15	51					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102502847	102502847	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:102502847C>A	uc001yks.2	+	57	10940	c.10776C>A	c.(10774-10776)CCC>CCA	p.P3592P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3592	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCATTGACCCCTCTGGACAGG	0.488		NA											13	67					0.00185496	0.00375024	1	0
BTBD1	53339	broad.mit.edu	37	15	83710628	83710628	+	Silent	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr15:83710628A>G	uc002bjn.2	-	4	917	c.714T>C	c.(712-714)AGT>AGC	p.S238S	BTBD1_uc002bjo.2_Silent_p.S238S	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	238						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		CAAAAAGTCGACTTTCTCGAA	0.373		NA											18	39					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801106	24801106	+	Silent	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:24801106A>G	uc002dmm.2	+	6	1257	c.1143A>G	c.(1141-1143)AAA>AAG	p.K381K	TNRC6A_uc010bxs.2_Silent_p.K128K|TNRC6A_uc010vcc.1_Silent_p.K128K|TNRC6A_uc002dmn.2_Silent_p.K128K|TNRC6A_uc002dmo.2_Silent_p.K128K	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	381	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TTGCCCTAAAAGGGCCTGTAG	0.428		NA											3	57					0	0	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500299	31500299	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:31500299C>G	uc002ecf.3	+	11	1398	c.1379C>G	c.(1378-1380)TCT>TGT	p.S460C	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	460	Helical; (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CAGGCAGTCTCTAGCTACCTG	0.662		NA											10	18					0	0	0	0
TMEM188	255919	broad.mit.edu	37	16	50063658	50063658	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:50063658C>G	uc002efu.2	+	3	158	c.120C>G	c.(118-120)GTC>GTG	p.V40V	TMEM188_uc002eft.2_Silent_p.V57V|TMEM188_uc002efv.2_Intron			Q8N9A8	TM188_HUMAN	SubName: Full=TMP125; SubName: Full=Putative uncharacterized protein FLJ38101;	40	Helical; (Potential).					integral to membrane					0						TGGTATCTGTCTGTACAGCTA	0.338		NA											3	35					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578549	7578550	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578549_7578550GG>AA	uc002gim.2	-	5	574_575	c.380_381CC>TT	c.(379-381)TCC>TTT	p.S127F	TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.2_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	127	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(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)		TGAGGGCAGGGGAGTACTGTAG	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)			10	11					0	0	0	0
RARA	5914	broad.mit.edu	37	17	38508322	38508322	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:38508322G>A	uc002huk.1	+	5	1085	c.630G>A	c.(628-630)ACG>ACA	p.T210T	RARA_uc002hul.3_Silent_p.T210T|RARA_uc010wfe.1_Silent_p.T113T|RARA_uc002hun.1_Silent_p.T205T	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	210	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATACACTACGGTATGGCTTT	0.632		NA	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								4	4					0	0	0	0
EPX	8288	broad.mit.edu	37	17	56280505	56280505	+	Missense_Mutation	SNP	G	G	A	rs149971221	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:56280505G>A	uc002ivq.2	+	11	1858	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	591					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAGCTTAGCCGGGTGCTGAAA	0.542		NA											49	50					0	0	0	0
ABCA9	10350	broad.mit.edu	37	17	67020425	67020425	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:67020425G>T	uc002jhu.2	-	17	2354	c.2211C>A	c.(2209-2211)GCC>GCA	p.A737A	ABCA9_uc010dez.2_Silent_p.A737A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	737					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CTGTCAATTTGGCATCAGAGA	0.323		NA											6	15					0.00116845	0.00238825	1	0
MC2R	4158	broad.mit.edu	37	18	13885087	13885087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:13885087A>G	uc002ksp.1	-	2	608	c.431T>C	c.(430-432)ATG>ACG	p.M144T		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	144	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTGCGGCGCATGGTCACGAT	0.582		NA											20	21					0	0	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000485	73000485	+	Silent	SNP	C	C	T	rs147097201		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:73000485C>T	uc002lly.2	+	2	3551	c.2988C>T	c.(2986-2988)CTC>CTT	p.L996L		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	1041	C2H2-type 5.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGTAAGCTCTGCAACCGGA	0.527		NA											20	39					0	0	0	0
ASNA1	439	broad.mit.edu	37	19	12856229	12856229	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:12856229C>T	uc002muv.2	+	3	362	c.348C>T	c.(346-348)GAC>GAT	p.D116D	ASNA1_uc002muw.2_Silent_p.D115D	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	116					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	AGCTGCCTGACGAGTTCTTCG	0.612		NA											8	20					0	0	0	0
NCAN	1463	broad.mit.edu	37	19	19338829	19338829	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:19338829G>C	uc002nlz.2	+	8	2499	c.2400G>C	c.(2398-2400)GGG>GGC	p.G800G	NCAN_uc010ecc.1_Silent_p.G364G	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	800					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCCCCCTGGGGAGCCCTGGAG	0.567		NA											11	136					0	0	0	0
PRKCG	5582	broad.mit.edu	37	19	54395868	54395868	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:54395868G>A	uc002qcq.1	+	7	1074	c.792G>A	c.(790-792)TCG>TCA	p.S264S	PRKCG_uc010eqz.1_Silent_p.S264S|PRKCG_uc010yef.1_Silent_p.S264S|PRKCG_uc010yeg.1_Silent_p.S264S|PRKCG_uc010yeh.1_Silent_p.S151S	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	264					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGGCGTCTCGGAGCTGCTCA	0.642		NA											7	9					0	0	0	0
ROCK2	9475	broad.mit.edu	37	2	11347878	11347878	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:11347878C>T	uc002rbd.1	-	20	2972	c.2523G>A	c.(2521-2523)TTG>TTA	p.L841L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	841	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGTTTTTCCAAGTTCATTT	0.303		NA											5	27					0	0	0	0
FAM49A	81553	broad.mit.edu	37	2	16734259	16734259	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:16734259G>C	uc010exm.1	-	11	1065	c.917C>G	c.(916-918)ACA>AGA	p.T306R	FAM49A_uc002rck.1_Missense_Mutation_p.T306R	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	306						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAGTGCTTTGTAGTGAACCT	0.438		NA											8	44					0	0	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37347201	37347201	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:37347201G>A	uc010ynh.1	-	13	1706	c.1149C>T	c.(1147-1149)GGC>GGT	p.G383G	EIF2AK2_uc010fab.1_Silent_p.G342G|EIF2AK2_uc010yng.1_Silent_p.G383G|EIF2AK2_uc010fac.2_Silent_p.G383G|EIF2AK2_uc010fad.2_Silent_p.G330G	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	383	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				CTAGTTTCTCGCCTCTTCTTT	0.343		NA											7	33					0	0	0	0
LRPPRC	10128	broad.mit.edu	37	2	44204310	44204310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:44204310T>C	uc002rtr.2	-	4	633	c.575A>G	c.(574-576)AAC>AGC	p.N192S	LRPPRC_uc010yob.1_Missense_Mutation_p.N92S|LRPPRC_uc010faw.1_Missense_Mutation_p.N166S	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	192	PPR 2.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGTTGAATGTTTGCTTCCTC	0.289		NA											25	29					0	0	0	0
MRPL53	116540	broad.mit.edu	37	2	74699750	74699750	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74699750A>G	uc002sln.2	-	1	178	c.38T>C	c.(37-39)GTC>GCC	p.V13A	CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	13						mitochondrion|ribosome					0						AACCTGTTTGACAGGCCGCAG	0.592		NA											6	56					0	0	0	0
AUP1	550	broad.mit.edu	37	2	74754072	74754072	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74754072T>C	uc010yrx.1	-	10	1489	c.1363A>G	c.(1363-1365)AGA>GGA	p.R455G	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.R131G|AUP1_uc002smf.2_Missense_Mutation_p.R398G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.R307G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	464	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CCTCACCTTCTTGCGTATTCA	0.507		NA											32	55					0	0	0	0
POLR1A	25885	broad.mit.edu	37	2	86255166	86255166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:86255166G>A	uc002sqs.2	-	33	5283	c.4904C>T	c.(4903-4905)GCG>GTG	p.A1635V	POLR1A_uc010ytb.1_Missense_Mutation_p.A1001V	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1635					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGGGTCGACCGCGATGCCTGT	0.542		NA											8	28					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152426612	152426612	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:152426612A>C	uc010fnx.2	-	81	12501	c.12310T>G	c.(12310-12312)TAC>GAC	p.Y4104D	NEB_uc002txr.2_Missense_Mutation_p.Y527D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4104	Nebulin 112.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCAGTTCGTAGGCCTTCTTG	0.507		NA											2	9					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170099508	170099508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:170099508C>T	uc002ues.2	-	24	3838	c.3625G>A	c.(3625-3627)GGT>AGT	p.G1209S	LRP2_uc010zdf.1_Missense_Mutation_p.G1072S	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1209	LDL-receptor class A 12.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAAAAACACCATCACAACGA	0.398		NA											16	106					0	0	0	0
LRRN4	164312	broad.mit.edu	37	20	6031559	6031559	+	Silent	SNP	C	C	T	rs149005401	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:6031559C>T	uc002wmo.2	-	3	950	c.726G>A	c.(724-726)ACG>ACA	p.T242T	LRRN4_uc002wmp.2_Silent_p.T242T	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	242	Extracellular (Potential).|LRR 8.					integral to membrane				skin(3)	3						CCTCCAGGGTCGTCAGCCGAG	0.552		NA											10	21					0	0	0	0
XRN2	22803	broad.mit.edu	37	20	21328869	21328869	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:21328869A>C	uc002wsf.1	+	18	1846	c.1751A>C	c.(1750-1752)GAT>GCT	p.D584A	XRN2_uc002wsg.1_Missense_Mutation_p.D508A|XRN2_uc010zsk.1_Missense_Mutation_p.D530A	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	584				D -> E (in Ref. 1; AAD55138).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						ATGCCATCTGATTTTGAGAAG	0.348		NA											5	49					0	0	0	0
HM13	81502	broad.mit.edu	37	20	30154066	30154066	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:30154066G>A	uc002wwe.2	+	11	1116	c.1002G>A	c.(1000-1002)GCG>GCA	p.A334A	HM13_uc002wwc.2_Silent_p.A334A|HM13_uc002wwd.2_Silent_p.A334A|HM13_uc002wwf.2_Silent_p.A210A|HM13_uc010gdu.2_Silent_p.A210A	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	334	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCCTGGTGGCGCTGGCCAAGG	0.612		NA											10	107					0	0	0	0
NDRG3	57446	broad.mit.edu	37	20	35312834	35312834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:35312834G>A	uc002xfw.2	-	6	447	c.365C>T	c.(364-366)CCT>CTT	p.P122L	NDRG3_uc002xfx.2_Missense_Mutation_p.P110L|NDRG3_uc010zvq.1_Missense_Mutation_p.P27L|NDRG3_uc010zvr.1_Missense_Mutation_p.P10L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	122				P -> S (in Ref. 2; AAK34944).	cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				GGTAAGAACAGGAGGCAGCAT	0.418		NA											7	38					0	0	0	0
CYYR1	116159	broad.mit.edu	37	21	27840862	27840862	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:27840862C>T	uc002ymd.2	-	4	745	c.423G>A	c.(421-423)CAG>CAA	p.Q141Q	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.Q142Q	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	141	Cytoplasmic (Potential).					integral to membrane					0						GTGGAGAACGCTGTGCTGGAC	0.532		NA											5	41					0	0	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:30380219A>T	uc002yms.2	-	4	675	c.588T>A	c.(586-588)CAT>CAA	p.H196Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	196											0						TGTTATAGATATGATGGCTGT	0.458		NA											7	59					0	0	0	0
SON	6651	broad.mit.edu	37	21	34923613	34923613	+	Silent	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:34923613T>A	uc002yse.1	+	3	2125	c.2076T>A	c.(2074-2076)CCT>CCA	p.P692P	SON_uc002ysb.1_Silent_p.P692P|SON_uc002ysc.2_Silent_p.P692P|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	692					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGGAGCTGCCTACTACATTAG	0.512		NA											16	56					0	0	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704324	47704324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:47704324T>C	uc002zir.1	-	1	913	c.877A>G	c.(877-879)AGG>GGG	p.R293G	C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					TCCTCCTTCCTTTTCAGTCCT	0.572		NA											31	64					0	0	0	0
HIRA	7290	broad.mit.edu	37	22	19393354	19393354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:19393354C>T	uc002zpf.1	-	5	572	c.352G>A	c.(352-354)GTG>ATG	p.V118M	HIRA_uc011agx.1_Translation_Start_Site|HIRA_uc010grn.1_Missense_Mutation_p.V118M|HIRA_uc010gro.1_Missense_Mutation_p.V74M|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	118					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CACTGCTCCACATTGGCAAGC	0.602		NA											5	32					0	0	0	0
DZIP3	9666	broad.mit.edu	37	3	108355484	108355484	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:108355484T>A	uc003dxd.2	+	11	1362	c.940T>A	c.(940-942)TTG>ATG	p.L314M	DZIP3_uc003dxf.1_Missense_Mutation_p.L314M|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.L314M|DZIP3_uc003dxg.1_Missense_Mutation_p.L37M	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	314					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAAAAAATGTTTGAAGGAAGG	0.264		NA											8	111					0	0	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:138374244T>A	uc011bmq.1	-	22	3200	c.3200A>T	c.(3199-3201)GAC>GTC	p.D1067V	PIK3CB_uc011bmn.1_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_RNA	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	1067	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGATCTGTAGTCTTTCCGAAC	0.408		NA											37	63					0	0	0	0
TRIM42	287015	broad.mit.edu	37	3	140406956	140406956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:140406956G>T	uc003eto.1	+	3	1623	c.1432G>T	c.(1432-1434)GAC>TAC	p.D478Y		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	478	COS.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CGTGCCCTTGGACTTTGTTGA	0.602		NA											11	22					5.51e-06	1.14e-05	1	0
RFC1	5981	broad.mit.edu	37	4	39310409	39310409	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:39310409C>G	uc003gty.1	-	13	1866	c.1732G>C	c.(1732-1734)GAA>CAA	p.E578Q	RFC1_uc003gtx.1_Missense_Mutation_p.E578Q	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	578					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						ACTTTGTTTTCACTGCTGTCA	0.463		NA											26	131					0	0	0	0
PTPN13	5783	broad.mit.edu	37	4	87692491	87692491	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:87692491G>A	uc003hpz.2	+	31	5451	c.4971G>A	c.(4969-4971)GGG>GGA	p.G1657G	PTPN13_uc003hpy.2_Silent_p.G1662G|PTPN13_uc003hqa.2_Silent_p.G1638G|PTPN13_uc003hqb.2_Silent_p.G1466G|PTPN13_uc003hqc.1_Silent_p.G23G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1657						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGCAGTGGGAGTGGAGAAG	0.453		NA											4	4					0	0	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952308	119952308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:119952308C>G	uc003icm.3	+	4	2574	c.2378C>G	c.(2377-2379)CCC>CGC	p.P793R	SYNPO2_uc010ina.2_Missense_Mutation_p.P793R|SYNPO2_uc010inb.2_Missense_Mutation_p.P793R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P721R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	793	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CCTGCCTTCCCCACATCCAAC	0.567		NA											4	61					0	0	0	0
FABP2	2169	broad.mit.edu	37	4	120243207	120243207	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:120243207C>T	uc003icw.2	-	1	110	c.51G>A	c.(49-51)AAG>AAA	p.K17K		NM_000134	NP_000125	P12104	FABPI_HUMAN	intestinal fatty acid binding protein 2	17							fatty acid binding			ovary(1)	1						TTTCCATGAACTTGTCATAGT	0.393		NA											27	132					0	0	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422042	1422042	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:1422042G>C	uc003jck.2	-	5	862	c.741C>G	c.(739-741)GTC>GTG	p.V247V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	247	Helical; Name=4; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCAGCACGATGACCAGCACCA	0.647		NA											7	88					0	0	0	0
TRIO	7204	broad.mit.edu	37	5	14508431	14508431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:14508431G>C	uc003jff.2	+	57	9200	c.9194G>C	c.(9193-9195)AGA>ACA	p.R3065T	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	3065					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACACGTCCAGACTGACTTCC	0.592		NA											4	67					0	0	0	0
POLK	51426	broad.mit.edu	37	5	74892047	74892047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:74892047G>A	uc003kdw.2	+	13	1625	c.1529G>A	c.(1528-1530)GGT>GAT	p.G510D	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.G312D|POLK_uc003kec.2_Missense_Mutation_p.G420D|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.G420D	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	510					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTTAATTTAGGTGTTCGGATA	0.373		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					8	12					0	0	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826614	34826614	+	Silent	SNP	C	C	T	rs149495470	by1000genomes	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:34826614C>T	uc003oju.3	+	14	2715	c.2481C>T	c.(2479-2481)CGC>CGT	p.R827R	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	827										ovary(3)	3						CCCATGTCCGCGTGAGGCTTG	0.527		NA											29	101					0	0	0	0
SOBP	55084	broad.mit.edu	37	6	107956480	107956480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:107956480A>G	uc003prx.2	+	6	2936	c.2432A>G	c.(2431-2433)GAC>GGC	p.D811G		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	811							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AACCCCGCGGACGAGGACCAT	0.647		NA											16	46					0	0	0	0
TCF21	6943	broad.mit.edu	37	6	134210564	134210564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:134210564A>G	uc003qei.3	+	1	305	c.29A>G	c.(28-30)GAG>GGG	p.E10G	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E10G	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	10					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGCGATGTGGAGGACCTTCAA	0.383		NA											6	60					0	0	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30113748	30113748	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:30113748G>T	uc003tam.1	+	13	1453	c.1362G>T	c.(1360-1362)GCG>GCT	p.A454A	PLEKHA8_uc003tao.2_Silent_p.A338A|PLEKHA8_uc003tap.1_Silent_p.A454A|PLEKHA8_uc003tan.2_Intron	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	454					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GGGTTTTTGCGGTAAGTGATC	0.403		NA											10	11					0.00136819	0.00278125	1	0
AP4M1	9179	broad.mit.edu	37	7	99703604	99703604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:99703604C>T	uc003utb.3	+	12	1160	c.952C>T	c.(952-954)CGA>TGA	p.R318*	AP4M1_uc011kjg.1_Nonsense_Mutation_p.R272*|AP4M1_uc010lgl.1_Nonsense_Mutation_p.R293*|AP4M1_uc003utc.3_Nonsense_Mutation_p.R325*|AP4M1_uc010lgm.2_Nonsense_Mutation_p.R190*|AP4M1_uc003utd.2_Nonsense_Mutation_p.R318*|AP4M1_uc011kjh.1_Nonsense_Mutation_p.R270*|AP4M1_uc003ute.3_Nonsense_Mutation_p.R93*|AP4M1_uc003utf.3_Nonsense_Mutation_p.R190*	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	318	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTAAAGTTGCGATGTGACCT	0.552		NA											10	106					0	0	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587134	42587134	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587134C>G	uc003xpi.1	+	5	812	c.684C>G	c.(682-684)GTC>GTG	p.V228V		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	228	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTCCTTCGTCCTGAGACGCC	0.478		NA											28	57					0	0	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587173	42587173	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587173C>A	uc003xpi.1	+	5	851	c.723C>A	c.(721-723)ATC>ATA	p.I241I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	241	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTTTCTCATCATCCCCTGCC	0.468		NA											26	49					3.74e-18	8.04e-18	1	0
FAM135B	51059	broad.mit.edu	37	8	139164397	139164397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:139164397G>T	uc003yuy.2	-	13	2492	c.2321C>A	c.(2320-2322)CCC>CAC	p.P774H	FAM135B_uc003yux.2_Missense_Mutation_p.P675H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P336H|FAM135B_uc003yvb.2_Missense_Mutation_p.P336H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	774										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGATGTGGGGAGCAGATAC	0.522		NA								HNSCC(54;0.14)			8	99					1.59e-06	3.32e-06	1	0
NAPRT1	93100	broad.mit.edu	37	8	144658293	144658293	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:144658293G>A	uc003yym.3	-	8	1087	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	NAPRT1_uc003yyn.3_Silent_p.V354V|NAPRT1_uc011lkh.1_Silent_p.V354V|NAPRT1_uc003yyo.3_Silent_p.V354V	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	354					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTTGTTGCTGACTACGATGA	0.672		NA											12	40					0	0	0	0
SUSD1	64420	broad.mit.edu	37	9	114911525	114911525	+	Silent	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:114911525T>A	uc004bfu.2	-	3	413	c.372A>T	c.(370-372)ACA>ACT	p.T124T	SUSD1_uc010mui.2_Silent_p.T124T|SUSD1_uc010muj.2_Silent_p.T124T	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	124	Extracellular (Potential).					integral to membrane	calcium ion binding				0						CTTGAGTACCTGTACAAAAGG	0.328		NA											39	211					0	0	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123239729	123239729	+	Splice_Site	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:123239729C>T	uc004bkf.2	-	15	1808	c.1627_splice	c.e15-1	p.E543_splice	CDK5RAP2_uc004bkg.2_Splice_Site_p.E543_splice|CDK5RAP2_uc011lxw.1_Splice_Site|CDK5RAP2_uc011lxx.1_Splice_Site|CDK5RAP2_uc011lxy.1_Splice_Site|CDK5RAP2_uc011lxz.1_Splice_Site|CDK5RAP2_uc011lya.1_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.E543_splice|CDK5RAP2_uc004bki.2_Splice_Site_p.E342_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GTTTCTTTTCCTGGAAATGAC	0.358		NA									OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	0	0
MAP7D2	256714	broad.mit.edu	37	X	20043130	20043130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:20043130G>T	uc004czr.1	-	9	1247	c.1228C>A	c.(1228-1230)CAG>AAG	p.Q410K	MAP7D2_uc004czq.1_Missense_Mutation_p.Q295K|MAP7D2_uc011mji.1_Missense_Mutation_p.Q358K|MAP7D2_uc010nfo.1_Missense_Mutation_p.Q451K|MAP7D2_uc011mjj.1_Missense_Mutation_p.Q365K	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	410										ovary(2)|breast(1)	3						AGCCGGGCCTGTCTTCTCTTT	0.527		NA											56	44					3.4e-31	7.36e-31	1	0
BCOR	54880	broad.mit.edu	37	X	39937101	39937101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:39937101C>G	uc004den.3	-	2	374	c.82G>C	c.(82-84)GAC>CAC	p.D28H	BCOR_uc004dep.3_Missense_Mutation_p.D28H|BCOR_uc004deo.3_Missense_Mutation_p.D28H|BCOR_uc004dem.3_Missense_Mutation_p.D28H|BCOR_uc004deq.3_Missense_Mutation_p.D28H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	28					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ATTCACCTGTCTTCGCTCGCC	0.627		NA											18	9					0	0	0	0
TMEM187	8269	broad.mit.edu	37	X	153247560	153247560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153247560G>C	uc004fjq.2	+	2	581	c.47G>C	c.(46-48)GGT>GCT	p.G16A	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	16	Helical; (Potential).					integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGGCCGGTGGCCTCTGT	0.647		NA											14	10					0	0	0	0
RPL10	6134	broad.mit.edu	37	X	153628946	153628946	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153628946C>G	uc004fkm.2	+	6	659	c.471C>G	c.(469-471)TTC>TTG	p.F157L	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F157L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F82L	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	157				F -> L (in Ref. 8; BAD97029).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAAGTTCAAGTTTCCTG	0.562		NA											3	35					0	0	0	0
POLR2H	5437	broad.mit.edu	37	3	184082973	184082998	+	Frame_Shift_Del	DEL	GGATGATGGTGAATACAACCCCACTG	GGATGATGGTGAATACAACCCCACTG	-	rs112012928		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG	uc003fok.1	+	3	297_322	c.210_235delGGATGATGGTGAATACAACCCCACTG	c.(208-237)CTGGATGATGGTGAATACAACCCCACTGATfs	p.L70fs	POLR2H_uc003foj.1_RNA	NM_006232	NP_006223	P52434	RPAB3_HUMAN	RNA polymerase II, polypeptide H	70_79					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC	0.407		NA											9	141	---	---	---	---	NA	NA	NA	NA
LEMD2	221496	broad.mit.edu	37	6	33744932	33744933	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:33744932_33744933insTC	uc011drm.1	-	7	1253_1254	c.1240_1241insGA	c.(1240-1242)ATGfs	p.M414fs	LEMD2_uc010jvg.2_Frame_Shift_Ins_p.M123fs|LEMD2_uc011drl.1_Frame_Shift_Ins_p.M112fs|LEMD2_uc003ofe.2_Frame_Shift_Ins_p.M112fs	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	414						integral to nuclear inner membrane				central_nervous_system(1)	1						CTTCTTCACCATCTCATACATG	0.51		NA											32	193	---	---	---	---	NA	NA	NA	NA
RSPH3	83861	broad.mit.edu	37	6	159403578	159403579	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:159403578_159403579insTC	uc003qrx.2	-	5	1250_1251	c.1060_1061insGA	c.(1060-1062)AATfs	p.N354fs	RSPH3_uc010kju.2_Frame_Shift_Ins_p.N258fs|RSPH3_uc003qry.1_Frame_Shift_Ins_p.N354fs	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	354	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGTTCACTATTCCGTAGTTCT	0.431		NA											12	68	---	---	---	---	NA	NA	NA	NA
PKHD1L1	93035	broad.mit.edu	37	8	110460576	110460576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:110460576delT	uc003yne.2	+	39	6085	c.5981delT	c.(5980-5982)GTAfs	p.V1994fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1994	Extracellular (Potential).|IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCACAGTTGTATTTGAGTAC	0.393		NA								HNSCC(38;0.096)			8	32	---	---	---	---	NA	NA	NA	NA
FAM166B	730112	broad.mit.edu	37	9	35562439	35562439	+	Frame_Shift_Del	DEL	G	G	-	rs77185976	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:35562439delG	uc010mkr.2	-	5	748	c.677delC	c.(676-678)CCAfs	p.P226fs	FAM166B_uc011lov.1_Frame_Shift_Del_p.P214fs|FAM166B_uc011low.1_Frame_Shift_Del_p.H211fs|FAM166B_uc003zwy.2_Frame_Shift_Del_p.P203fs	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	226											0						TCTGGGAAGTGGGGGGAGATG	0.582		NA											2	4	---	---	---	---	NA	NA	NA	NA
AR	367	broad.mit.edu	37	X	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:66765243_66765245delGCA	uc004dwu.1	+	1	1370_1372	c.255_257delGCA	c.(253-258)AGGCAG>AGG	p.Q91del	AR_uc011mpd.1_In_Frame_Del_p.Q91del|AR_uc011mpe.1_RNA|AR_uc011mpf.1_In_Frame_Del_p.Q91del	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	89	Poly-Gln.|Modulating.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.296		NA							Androgen_Insensitivity_Syndrome				3	5	---	---	---	---	NA	NA	NA	NA
