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
PLEKHG5	57449	broad.mit.edu	37	1	6530360	6530360	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:6530360G>A	uc001ano.1	-	17	2005	c.1904C>T	c.(1903-1905)CCG>CTG	p.P635L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P616L|PLEKHG5_uc001anq.1_Missense_Mutation_p.P656L|PLEKHG5_uc001anp.1_Missense_Mutation_p.P656L|PLEKHG5_uc001anj.1_Missense_Mutation_p.P140L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P419L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P648L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P579L|PLEKHG5_uc009vmb.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anl.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	635					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGTCTCCTCCGGGGAGGCGCC	0.657												
TRIM62	55223	broad.mit.edu	37	1	33612785	33612785	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:33612785C>T	uc001bxb.2	-	5	2059	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	474	B30.2/SPRY.			R -> L (in Ref. 1; BAA91792).		intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				GGACTAGATGCGGACGGTGTT	0.463												
CSMD2	114784	broad.mit.edu	37	1	34312507	34312507	+	Silent	SNP	G	G	A	rs143306375		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:34312507G>A	uc001bxn.1	-	6	920	c.891C>T	c.(889-891)CGC>CGT	p.R297R	CSMD2_uc001bxm.1_Silent_p.R337R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607												
KIF2C	11004	broad.mit.edu	37	1	45226090	45226090	+	Silent	SNP	T	T	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:45226090T>C	uc001cmg.3	+	15	1621	c.1506T>C	c.(1504-1506)ACT>ACC	p.T502T	KIF2C_uc010olb.1_Silent_p.T461T|KIF2C_uc010olc.1_Silent_p.T389T|KIF2C_uc001cmh.3_Silent_p.T448T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	502	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGCGGACACTTCCAGTGCTG	0.562												
LHX8	431707	broad.mit.edu	37	1	75614308	75614308	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:75614308G>C	uc001dgo.2	+	8	1415	c.751G>C	c.(751-753)GAT>CAT	p.D251H	LHX8_uc001dgq.2_Missense_Mutation_p.D190H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	251	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAACAACCCAGATGCACAGAC	0.358												
ATXN7L2	127002	broad.mit.edu	37	1	110028719	110028719	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:110028719G>A	uc001dxr.2	+	2	183	c.168G>A	c.(166-168)TTG>TTA	p.L56L	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	56										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGAAGAAGTTGGATGCCATGA	0.537												
SPTA1	6708	broad.mit.edu	37	1	158589036	158589036	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:158589036A>G	uc001fst.1	-	45	6705	c.6506T>C	c.(6505-6507)TTC>TCC	p.F2169S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2169	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCATTGAAGGAAGGTACTGGC	0.478												
FAM5C	339479	broad.mit.edu	37	1	190195436	190195436	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:190195436A>C	uc001gse.1	-	6	969	c.737T>G	c.(736-738)CTT>CGT	p.L246R	FAM5C_uc010pot.1_Missense_Mutation_p.L144R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	246						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GTCTGGGAGAAGTACTTGAAG	0.318												
ACTN2	88	broad.mit.edu	37	1	236881196	236881196	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:236881196C>T	uc001hyf.2	+	2	369	c.165C>T	c.(163-165)GCC>GCT	p.A55A	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.A55A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	55	CH 1.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TAAGGAAAGCCGGCACCCAGA	0.478												
MYO3A	53904	broad.mit.edu	37	10	26457674	26457674	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr10:26457674A>C	uc001isn.2	+	28	3505	c.3145A>C	c.(3145-3147)AAT>CAT	p.N1049H	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1049					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						GGAGCAGTTAAATCTAATGCG	0.353												
C11orf41	25758	broad.mit.edu	37	11	33667477	33667477	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:33667477G>A	uc001mup.3	+	16	4906	c.4782G>A	c.(4780-4782)TCG>TCA	p.S1594S		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1588						integral to membrane				ovary(2)	2						TGCCCTATTCGGAGGTGGTGA	0.682												
BEST1	7439	broad.mit.edu	37	11	61729952	61729952	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:61729952C>G	uc001nss.2	+	10	1906	c.1326C>G	c.(1324-1326)AAC>AAG	p.N442K	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Missense_Mutation_p.N70K|BEST1_uc001nsr.2_Missense_Mutation_p.N382K|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.N382K|BEST1_uc001nst.2_Missense_Mutation_p.N355K|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.N336K	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	442	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						AGGAAGACAACAAGGCCTGGA	0.587												
CCDC81	60494	broad.mit.edu	37	11	86123466	86123466	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:86123466C>T	uc001pbx.1	+	11	1684	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	CCDC81_uc001pbw.1_Missense_Mutation_p.A329V|CCDC81_uc010rtq.1_Missense_Mutation_p.A202V|CCDC81_uc001pby.1_Missense_Mutation_p.A154V	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	419										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTCAGTCCTGCGCTTAATGCT	0.378												
HINFP	25988	broad.mit.edu	37	11	119005167	119005167	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:119005167C>T	uc001pvp.2	+	11	1702	c.1513C>T	c.(1513-1515)CTT>TTT	p.L505F	HINFP_uc001pvq.2_Missense_Mutation_p.L505F|HINFP_uc001pvr.2_Missense_Mutation_p.L258F	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	505	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CATGGAAAAGCTTCAAGGAAT	0.577											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAD51AP1	10635	broad.mit.edu	37	12	4662198	4662198	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:4662198C>T	uc001qmw.2	+	8	813	c.657C>T	c.(655-657)GAC>GAT	p.D219D	RAD51AP1_uc001qmu.2_Silent_p.D202D|RAD51AP1_uc001qmv.2_Silent_p.D165D|RAD51AP1_uc010sep.1_Silent_p.D84D|RAD51AP1_uc010seq.1_Silent_p.D84D|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	219					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGGATAATGACGAAGACTTCT	0.313												
NCAPD2	9918	broad.mit.edu	37	12	6637448	6637448	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:6637448C>T	uc001qoo.2	+	25	3299	c.3253C>T	c.(3253-3255)CGC>TGC	p.R1085C	NCAPD2_uc009zen.1_Missense_Mutation_p.R957C|NCAPD2_uc010sfd.1_Missense_Mutation_p.R1040C	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1085					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TCTGGCCATCCGCTTTCCCAA	0.572												
PZP	5858	broad.mit.edu	37	12	9344831	9344831	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:9344831C>T	uc001qvl.2	-	13	1533	c.1504G>A	c.(1504-1506)GTC>ATC	p.V502I	PZP_uc009zgl.2_Missense_Mutation_p.V371I	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CCAGATCTGACGATGACTCCC	0.478												
FAM186B	84070	broad.mit.edu	37	12	49993507	49993507	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:49993507C>T	uc001ruo.2	-	4	2089	c.1916G>A	c.(1915-1917)GGG>GAG	p.G639E	FAM186B_uc010smk.1_Missense_Mutation_p.G549E	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	639						protein complex				ovary(1)	1						GATGGATGTCCCAGTGACAGG	0.522												
TBX5	6910	broad.mit.edu	37	12	114841689	114841689	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:114841689G>A	uc001tvo.2	-	2	510	c.15C>T	c.(13-15)GAC>GAT	p.D5D	TBX5_uc001tvp.2_Silent_p.D5D|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Silent_p.D5D	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	5					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAAGCCCTCGTCTGCGTCGG	0.677												
COG3	83548	broad.mit.edu	37	13	46090314	46090314	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr13:46090314C>T	uc001vak.2	+	17	1947	c.1846C>T	c.(1846-1848)CTT>TTT	p.L616F	COG3_uc010tfv.1_Missense_Mutation_p.L453F|COG3_uc010aci.2_Missense_Mutation_p.L392F	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	616					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AATTAAGCACCTTTTGATACT	0.333												
SLITRK5	26050	broad.mit.edu	37	13	88328449	88328449	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr13:88328449G>A	uc001vln.2	+	2	1025	c.806G>A	c.(805-807)CGC>CAC	p.R269H	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	269	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCCCCTTCCGCTTACACGGA	0.517												
TTLL5	23093	broad.mit.edu	37	14	76147917	76147917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:76147917C>T	uc001xrx.2	+	4	416	c.211C>T	c.(211-213)CGA>TGA	p.R71*	TTLL5_uc001xrw.1_Nonsense_Mutation_p.R71*|TTLL5_uc010ask.1_Nonsense_Mutation_p.R71*|TTLL5_uc001xrv.2_Nonsense_Mutation_p.R71*	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	71	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TAAGATTGTACGAACGGACAG	0.343												
C14orf145	145508	broad.mit.edu	37	14	81209494	81209494	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:81209494A>G	uc001xux.2	-	18	2902	c.2731T>C	c.(2731-2733)TCT>CCT	p.S911P	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	911	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TGCAACTCAGATTCCTTGTTT	0.423												
EML1	2009	broad.mit.edu	37	14	100377910	100377910	+	Silent	SNP	G	G	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:100377910G>T	uc001ygs.2	+	13	1560	c.1491G>T	c.(1489-1491)ACG>ACT	p.T497T	EML1_uc010tww.1_Silent_p.T485T|EML1_uc001ygq.2_Silent_p.T516T|EML1_uc001ygr.2_Silent_p.T516T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	497	WD 5.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCGTAAAACGGAGGTAAGTC	0.358												
TECPR2	9895	broad.mit.edu	37	14	102906877	102906877	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:102906877G>C	uc001ylw.1	+	11	2831	c.2683G>C	c.(2683-2685)GTG>CTG	p.V895L	TECPR2_uc010awl.2_Missense_Mutation_p.V895L|TECPR2_uc010txx.1_Missense_Mutation_p.V58L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	895							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GCCCCAGGCAGTGTTTGTGGC	0.572												
PPP1R13B	23368	broad.mit.edu	37	14	104212794	104212794	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:104212794C>T	uc001yof.1	-	9	1349	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.G223R	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	356					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAAAGCTTCCGGCACTGGGA	0.572												
LBXCOR1	390598	broad.mit.edu	37	15	68118709	68118709	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr15:68118709C>T	uc002aqy.1	+	2	516	c.516C>T	c.(514-516)TTC>TTT	p.F172F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	181					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						ACTTCGCCTTCGATGTGGTGC	0.622												
EFTUD1	79631	broad.mit.edu	37	15	82532780	82532780	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr15:82532780G>C	uc002bgt.1	-	6	664	c.495C>G	c.(493-495)CAC>CAG	p.H165Q	EFTUD1_uc002bgu.1_Missense_Mutation_p.H114Q	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	165					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TATTCTTGAGGTGAGAATAGG	0.368												
FHOD1	29109	broad.mit.edu	37	16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:67264254C>T	uc002esl.2	-	19	3126	c.3014G>A	c.(3013-3015)CGT>CAT	p.R1005H	FHOD1_uc002esk.2_Missense_Mutation_p.R64H|FHOD1_uc010ced.2_Missense_Mutation_p.R812H	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592												
PHLPP2	23035	broad.mit.edu	37	16	71715755	71715755	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:71715755C>G	uc002fax.2	-	5	795	c.789G>C	c.(787-789)GAG>GAC	p.E263D	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.E263D|PHLPP2_uc002fay.1_Missense_Mutation_p.E263D	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	263	LRR 1.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCTCAGGAACCTCCTCGAGGC	0.478												
CNTNAP4	85445	broad.mit.edu	37	16	76389294	76389294	+	Silent	SNP	C	C	A	rs138220882		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:76389294C>A	uc002feu.1	+	5	661	c.276C>A	c.(274-276)ACC>ACA	p.T92T	CNTNAP4_uc002fev.1_Silent_p.T4T|CNTNAP4_uc010chb.1_Silent_p.T67T|CNTNAP4_uc002fex.1_Silent_p.T95T|CNTNAP4_uc002few.2_Silent_p.T67T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	92	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGGAGGTCACCGCTGTGGCCA	0.483												
L3MBTL4	91133	broad.mit.edu	37	18	6046733	6046733	+	Missense_Mutation	SNP	C	C	T	rs12958879		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:6046733C>T	uc002kmz.3	-	17	1625	c.1465G>A	c.(1465-1467)GGT>AGT	p.G489S	L3MBTL4_uc010dkt.2_Missense_Mutation_p.G489S|L3MBTL4_uc002kmy.3_Intron	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	489					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				ttacccaaacctctgggatgc	0												
SMAD2	4087	broad.mit.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:45368211G>C	uc002lcy.2	-	11	1639	c.1391C>G	c.(1390-1392)TCA>TGA	p.S464*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.S464*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.S434*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	464	MH2.			S->A: Loss of phosphorylation by TGFBR1; when associated with A-465 and A-467.	anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.R462fs*>4(1)		large_intestine(3)|lung(1)|central_nervous_system(1)	5						TGACATGCTTGAGCAACGCAC	0.423												
SALL3	27164	broad.mit.edu	37	18	76755232	76755232	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:76755232C>T	uc002lmt.2	+	2	3241	c.3241C>T	c.(3241-3243)CCC>TCC	p.P1081S	SALL3_uc010dra.2_Missense_Mutation_p.P616S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCCGCTGCCCGCGGGCGT	0.706												
ICAM5	7087	broad.mit.edu	37	19	10401793	10401793	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:10401793C>T	uc002mnu.3	+	2	193	c.128C>T	c.(127-129)GCG>GTG	p.A43V	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	43	Extracellular (Potential).				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTCGCGTGGCGTTCGTGGAG	0.701												
CILP2	148113	broad.mit.edu	37	19	19656264	19656264	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:19656264C>T	uc002nmv.3	+	8	2995	c.2910C>T	c.(2908-2910)TAC>TAT	p.Y970Y	CILP2_uc002nmw.3_Silent_p.Y976Y	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	970						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCAGCTCTACGGACTTCGGG	0.677												
SIGLEC12	89858	broad.mit.edu	37	19	52001483	52001483	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:52001483G>T	uc002pwx.1	-	5	1250	c.1194C>A	c.(1192-1194)CAC>CAA	p.H398Q	SIGLEC12_uc002pww.1_Missense_Mutation_p.H280Q|SIGLEC12_uc010eoy.1_Missense_Mutation_p.H125Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	398	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGACAAGGTGCAGGGACT	0.512												
ALK	238	broad.mit.edu	37	2	29416141	29416141	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:29416141G>A	uc002rmy.2	-	29	5719	c.4812C>T	c.(4810-4812)TAC>TAT	p.Y1604Y	ALK_uc010ymo.1_Silent_p.Y536Y	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1604	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGGTATCCTCGTAATGACCAG	0.537			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
ATP6V1E2	90423	broad.mit.edu	37	2	46739557	46739557	+	Silent	SNP	C	C	T	rs147271327		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:46739557C>T	uc002ruy.2	-	2	1408	c.294G>A	c.(292-294)GCG>GCA	p.A98A	ATP6V1E2_uc002ruz.2_Silent_p.A98A	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1	98					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCTCAGCTTCGCCTCACTGA	0.547												
CTNNA2	1496	broad.mit.edu	37	2	80874849	80874849	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:80874849C>T	uc010ysh.1	+	18	2719	c.2714C>T	c.(2713-2715)TCT>TTT	p.S905F	CTNNA2_uc010yse.1_Missense_Mutation_p.S857F|CTNNA2_uc010ysf.1_Missense_Mutation_p.S857F|CTNNA2_uc010ysg.1_Missense_Mutation_p.S812F|CTNNA2_uc010ysi.1_Missense_Mutation_p.S489F|CTNNA2_uc010ysj.1_Missense_Mutation_p.S186F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	905					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CCTGTTGTGTCTTGGAAGATG	0.478												
RETSAT	54884	broad.mit.edu	37	2	85581480	85581480	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:85581480T>A	uc002spd.2	-	1	342	c.151A>T	c.(151-153)AGG>TGG	p.R51W	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.R51W|RETSAT_uc010fgf.2_Missense_Mutation_p.R51W	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	51					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	ACCTTCTTCCTGGCCTCCTTG	0.557												
GPR17	2840	broad.mit.edu	37	2	128409297	128409297	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:128409297G>A	uc010yzn.1	+	4	1683	c.1072G>A	c.(1072-1074)GAG>AAG	p.E358K	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.E358K|GPR17_uc010yzo.1_Missense_Mutation_p.E330K|GPR17_uc002tpd.2_Missense_Mutation_p.E330K	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	358	Cytoplasmic (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GAAAACCAACGAGAGCTCGCT	0.612												
LRP1B	53353	broad.mit.edu	37	2	140990851	140990851	+	Silent	SNP	A	A	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:140990851A>G	uc002tvj.1	-	91	14676	c.13704T>C	c.(13702-13704)GAT>GAC	p.D4568D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4568	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTTGCCCATCCATATATA	0.333										TSP Lung(27;0.18)		
TMEFF2	23671	broad.mit.edu	37	2	193059095	193059095	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:193059095G>A	uc002utc.2	-	1	550	c.156C>T	c.(154-156)ACC>ACT	p.T52T	TMEFF2_uc002utd.1_Silent_p.T52T	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	52	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATTCCAGCCGGTGGGCGTTT	0.602												
TMC2	117532	broad.mit.edu	37	20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr20:2591146C>T	uc002wgf.1	+	12	1510	c.1495C>T	c.(1495-1497)CGC>TGC	p.R499C	TMC2_uc002wgg.1_Missense_Mutation_p.R483C|TMC2_uc010zpw.1_Missense_Mutation_p.R331C|TMC2_uc010zpx.1_Missense_Mutation_p.R330C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	499	Extracellular (Potential).					integral to membrane				ovary(3)	3						TTACCACCCACGCACTGGACT	0.532												
SETD4	54093	broad.mit.edu	37	21	37416162	37416162	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr21:37416162G>A	uc002yuw.1	-	6	2192	c.819C>T	c.(817-819)GGC>GGT	p.G273G	SETD4_uc002yux.1_Silent_p.G249G|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.G273G|SETD4_uc002yuy.2_Silent_p.G273G|SETD4_uc002yuz.2_Silent_p.G249G|SETD4_uc002yva.2_Silent_p.G249G	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	273	SET.									large_intestine(1)|ovary(1)	2						TATCGTGAGGGCCGTAACAGA	0.398												
CHL1	10752	broad.mit.edu	37	3	382574	382574	+	Silent	SNP	T	T	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:382574T>G	uc003bou.2	+	6	754	c.483T>G	c.(481-483)CCT>CCG	p.P161P	CHL1_uc003bot.2_Silent_p.P161P|CHL1_uc003bow.1_Silent_p.P161P|CHL1_uc011asi.1_Silent_p.P161P	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	161	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCCCACCTTTACACATTT	0.398												
CAND2	23066	broad.mit.edu	37	3	12858905	12858905	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:12858905G>A	uc003bxk.2	+	10	2523	c.2474G>A	c.(2473-2475)CGC>CAC	p.R825H	CAND2_uc003bxj.2_Missense_Mutation_p.R732H	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	825					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						ACAGCCAGTCGCCTGGTCTGC	0.672												
FBXO40	51725	broad.mit.edu	37	3	121341997	121341997	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:121341997C>A	uc003eeg.2	+	3	1931	c.1721C>A	c.(1720-1722)ACC>AAC	p.T574N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	574	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		AATTCTTTAACCAGCCTGCCC	0.512												
PPARGC1A	10891	broad.mit.edu	37	4	23815806	23815806	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:23815806G>A	uc003gqs.2	-	8	1420	c.1300C>T	c.(1300-1302)CTG>TTG	p.L434L	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	434					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTCTCTCTCAGGTAGCACTGG	0.493												
KLB	152831	broad.mit.edu	37	4	39449979	39449979	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:39449979G>T	uc003gua.2	+	5	2905	c.2808G>T	c.(2806-2808)GAG>GAT	p.E936D	KLB_uc011byj.1_Missense_Mutation_p.E927D	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	936	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						TGGCTGAAGAGAAATCTAAAC	0.338												
PDS5A	23244	broad.mit.edu	37	4	39915231	39915231	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:39915231C>T	uc003guv.3	-	9	1532	c.992G>A	c.(991-993)CGA>CAA	p.R331Q	PDS5A_uc010ifo.2_Missense_Mutation_p.R291Q|PDS5A_uc003guw.3_Missense_Mutation_p.R331Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	331					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						GTTCTCTTACCGTCCAAGAAA	0.348												
TACR3	6870	broad.mit.edu	37	4	104640440	104640440	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:104640440G>A	uc003hxe.1	-	1	536	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	131	Helical; Name=2; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCATGGAGGCGTCGGAGAAAG	0.522												
C4orf31	79625	broad.mit.edu	37	4	121958208	121958208	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:121958208G>A	uc003idq.1	-	4	1445	c.918C>T	c.(916-918)CCC>CCT	p.P306P		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	306	Fibronectin type-III 1.										0						ACTGCGTGTCGGGTTTCAGAT	0.463												
NIPBL	25836	broad.mit.edu	37	5	37052624	37052624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:37052624C>T	uc003jkl.3	+	42	7718	c.7219C>T	c.(7219-7221)CGA>TGA	p.R2407*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R2407*|NIPBL_uc003jkn.2_Nonsense_Mutation_p.R100*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2407					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAACACAGACGAGCCTTTCT	0.393												
VCAN	1462	broad.mit.edu	37	5	82834437	82834437	+	Missense_Mutation	SNP	C	C	T	rs150017263		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:82834437C>T	uc003kii.3	+	8	5971	c.5615C>T	c.(5614-5616)CCG>CTG	p.P1872L	VCAN_uc003kij.3_Missense_Mutation_p.P885L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P536L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1872	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACTTTGTCTCCGCATGTGGAA	0.443												
GPR98	84059	broad.mit.edu	37	5	89948224	89948224	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:89948224G>T	uc003kju.2	+	19	3574	c.3478G>T	c.(3478-3480)GAT>TAT	p.D1160Y	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1160	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTCAGAATGATTCTGCTTT	0.383												
PCDHA3	56145	broad.mit.edu	37	5	140182680	140182680	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:140182680C>T	uc003lhf.2	+	1	1898	c.1898C>T	c.(1897-1899)ACG>ATG	p.T633M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T633M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCAGCACGACCCGTGCC	0.662												
C1QTNF2	114898	broad.mit.edu	37	5	159776723	159776723	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:159776723G>A	uc003lyd.2	-	3	449	c.445C>T	c.(445-447)CGG>TGG	p.R149W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	104	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCAGCCCGCCCAATGGCC	0.672												
LCP2	3937	broad.mit.edu	37	5	169697919	169697919	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:169697919T>G	uc003man.1	-	7	534	c.327A>C	c.(325-327)GAA>GAC	p.E109D	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	109					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AATCGTCTTCTTCCTGCCCAC	0.507												
OR2B2	81697	broad.mit.edu	37	6	27879292	27879292	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:27879292T>C	uc011dkw.1	-	1	806	c.806A>G	c.(805-807)GAC>GGC	p.D269G		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTTCCCCGGTCTTTGGAGCT	0.443												
C6orf15	29113	broad.mit.edu	37	6	31079710	31079710	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:31079710C>T	uc003nsk.1	-	2	426	c.426G>A	c.(424-426)GCG>GCA	p.A142A	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	142											0						GAGCGAGGGCCGCAGCACTGG	0.652												
SENP6	26054	broad.mit.edu	37	6	76412460	76412460	+	Silent	SNP	T	T	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:76412460T>C	uc003pid.3	+	19	3007	c.2388T>C	c.(2386-2388)TGT>TGC	p.C796C	SENP6_uc003pie.3_Silent_p.C789C|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	796	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				TACAGAAATGTTCAACTGTAG	0.393												
GRIK2	2898	broad.mit.edu	37	6	102247636	102247636	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:102247636C>T	uc003pqp.3	+	7	1314	c.1065C>T	c.(1063-1065)TTC>TTT	p.F355F	GRIK2_uc003pqn.2_Silent_p.F355F|GRIK2_uc003pqo.3_Silent_p.F355F|GRIK2_uc010kcw.2_Silent_p.F355F	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	355	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTGGCGCTTCGGGACCCGCT	0.443												
SLC2A12	154091	broad.mit.edu	37	6	134350402	134350402	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:134350402G>A	uc003qem.1	-	2	732	c.561C>T	c.(559-561)TAC>TAT	p.Y187Y		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	187	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGGCAAATGCGTAATTTGAAA	0.428												
TXNDC3	51314	broad.mit.edu	37	7	37889997	37889997	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:37889997A>C	uc003tfn.2	+	4	423	c.51A>C	c.(49-51)CAA>CAC	p.Q17H		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	17	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCAATAATCAAAGCCTGTGGG	0.488									Kartagener_syndrome			
INHBA	3624	broad.mit.edu	37	7	41729393	41729393	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:41729393C>T	uc003thq.2	-	2	1371	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	INHBA_uc003thr.2_Missense_Mutation_p.R379Q	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	379				RMR -> AC (in Ref. 7; CAA51163).	cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						GCTATGGCCCCGCATGCGGTA	0.537										TSP Lung(11;0.080)		
GAL3ST4	79690	broad.mit.edu	37	7	99757813	99757813	+	Missense_Mutation	SNP	C	C	T	rs145166071		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:99757813C>T	uc003utt.2	-	3	2216	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R400Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R338Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	400	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGGGCCTCTCGGCGAGCCCG	0.602												
PLXNA4	91584	broad.mit.edu	37	7	131831381	131831381	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:131831381C>G	uc003vra.3	-	28	5172	c.4943G>C	c.(4942-4944)GGA>GCA	p.G1648A	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1648	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CATCTTGACTCCACTCTCCAG	0.587												
LRGUK	136332	broad.mit.edu	37	7	133933822	133933822	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:133933822A>G	uc003vrm.1	+	18	2208	c.2192A>G	c.(2191-2193)GAA>GGA	p.E731G		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	731							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCATATCCTGAAAAGAGGTGA	0.358												
PARP12	64761	broad.mit.edu	37	7	139726076	139726076	+	Silent	SNP	G	G	A	rs145495111		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:139726076G>A	uc003vvl.1	-	11	2575	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	PARP12_uc003vvk.1_Silent_p.S353S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	567	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					CAAAAATGGCGCTGGTGCCGT	0.567												
CSMD1	64478	broad.mit.edu	37	8	2820779	2820779	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:2820779C>T	uc011kwk.1	-	60	9812	c.9422G>A	c.(9421-9423)CGC>CAC	p.R3141H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2470H|CSMD1_uc010lrg.2_Missense_Mutation_p.R1032H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3141	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACACCCCGCGACCTTCACA	0.567												
RIMS2	9699	broad.mit.edu	37	8	104898339	104898339	+	Silent	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:104898339C>T	uc003yls.2	+	2	1087	c.846C>T	c.(844-846)GGC>GGT	p.G282G	RIMS2_uc003ylp.2_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.2_Silent_p.G312G|RIMS2_uc003ylr.2_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	535					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)		
COL14A1	7373	broad.mit.edu	37	8	121322263	121322263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:121322263C>T	uc003yox.2	+	37	4682	c.4417C>T	c.(4417-4419)CGA>TGA	p.R1473*	COL14A1_uc003yoz.2_Nonsense_Mutation_p.R438*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1473	Triple-helical region 1 (COL2).				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)			TCCAGGACTCCGAGGACCAAA	0.338												
OC90	729330	broad.mit.edu	37	8	133036823	133036823	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:133036823C>T	uc003ytg.2	-	13	1339	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	OC90_uc011lix.1_Missense_Mutation_p.E447K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	463					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGTCCTCCTCGCTGTCCTCC	0.647												
SLC45A4	57210	broad.mit.edu	37	8	142227211	142227211	+	Silent	SNP	G	G	A	rs144829418	byFrequency	TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:142227211G>A	uc003ywd.1	-	5	1862	c.1554C>T	c.(1552-1554)GCC>GCT	p.A518A	SLC45A4_uc003ywc.1_Silent_p.A518A|SLC45A4_uc010meq.1_Silent_p.A516A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	569	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACCAGTGGCGGCATAAATGA	0.577												
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:71098810C>T	uc004agr.2	+	9	1554	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						GATCCCAAGACGACATATTAT	0.512												
FLJ46321	389763	broad.mit.edu	37	9	84608947	84608947	+	Silent	SNP	A	A	C			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:84608947A>C	uc004amn.2	+	4	3609	c.3562A>C	c.(3562-3564)AGA>CGA	p.R1188R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1188						integral to membrane					0						TTTCCCACCAAGAATATCAGT	0.413												
ORM1	5004	broad.mit.edu	37	9	117087117	117087117	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:117087117A>G	uc004bik.3	+	4	487	c.376A>G	c.(376-378)AAG>GAG	p.K126E	ORM1_uc011lxo.1_Missense_Mutation_p.K126E	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	126					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	CAGGGACACCAAGACCTACAT	0.532												
MAGEB18	286514	broad.mit.edu	37	X	26157454	26157454	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:26157454T>G	uc004dbq.1	+	2	539	c.352T>G	c.(352-354)TTG>GTG	p.L118V		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	118	MAGE.						protein binding			central_nervous_system(1)	1						GGTGCATTTCTTGCTTCAGAA	0.418												
ATP6AP2	10159	broad.mit.edu	37	X	40464996	40464996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:40464996C>T	uc004det.2	+	9	1144	c.1042C>T	c.(1042-1044)CGA>TGA	p.R348*	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Nonsense_Mutation_p.R272*|ATP6AP2_uc011mkm.1_Nonsense_Mutation_p.R316*|ATP6AP2_uc011mkn.1_Nonsense_Mutation_p.R270*|ATP6AP2_uc004deu.1_Nonsense_Mutation_p.R212*	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	348	Cytoplasmic (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						CCAGAAGATTCGAATGGATTG	0.368												
PHKA1	5255	broad.mit.edu	37	X	71895995	71895995	+	Silent	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:71895995G>A	uc004eax.3	-	6	844	c.543C>T	c.(541-543)TTC>TTT	p.F181F	PHKA1_uc004eay.3_Silent_p.F181F|PHKA1_uc011mqi.1_Silent_p.F181F	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	181					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCCATATCCCGAAGTCCTGGC	0.398												
NOX1	27035	broad.mit.edu	37	X	100125713	100125713	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:100125713G>A	uc004egj.2	-	2	342	c.136C>T	c.(136-138)CTT>TTT	p.L46F	uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.L46F|NOX1_uc010nne.2_Missense_Mutation_p.L46F	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	46	Helical; (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						CTCACCCCAAGGATTTTTCTT	0.423												
SLC25A5	292	broad.mit.edu	37	X	118604441	118604441	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:118604441G>A	uc004erh.3	+	3	820	c.704G>A	c.(703-705)CGC>CAC	p.R235H	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	235	Helical; Name=5; (By similarity).|Substrate recognition (By similarity).|Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	GACACTGTTCGCCGCCGCATG	0.517												
TEX15	56154	broad.mit.edu	37	8	30702128	30702129	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:30702127_30702128T>TG	uc003xil.3	-	0	4406_4407	c.4406_4407A>CA	c.(4405-4407)aaafs	p.K1469fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1469										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTTTGCTTTTTCCGCTTG	0.342