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
SRRM1	10250	broad.mit.edu	37	1	24996743	24996743	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:24996743C>A	uc001bjm.2	+	15	2561	c.2337C>A	c.(2335-2337)AAC>AAA	p.N779K	SRRM1_uc010oel.1_Missense_Mutation_p.N791K|SRRM1_uc009vri.1_Missense_Mutation_p.N708K	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	779	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGTCTACAAACTGGTCACCAG	0.547000												
C1orf113	79729	broad.mit.edu	37	1	36785295	36785295	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:36785295C>T	uc010oia.1	+	14	1059	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	C1orf113_uc010oib.1_Missense_Mutation_p.P233L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_5'UTR	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	228											0		Myeloproliferative disorder(586;0.0393)				CACAGCAGCCCGGTAAAGGCC	0.622000												
GRIK3	2899	broad.mit.edu	37	1	37346293	37346293	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:37346293G>A	uc001caz.2	-	3	627	c.492C>T	c.(490-492)CTC>CTT	p.L164L	GRIK3_uc001cba.1_Silent_p.L164L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	164	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGACCAGGTCGAGGATGGCAT	0.622000												
MFSD2A	84879	broad.mit.edu	37	1	40433537	40433537	+	Missense_Mutation	SNP	C	C	T	rs139973362		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:40433537C>T	uc001cev.2	+	11	1377	c.1196C>T	c.(1195-1197)GCG>GTG	p.A399V	MFSD2A_uc010ojb.1_Missense_Mutation_p.A347V|MFSD2A_uc001ceu.2_Missense_Mutation_p.A386V|MFSD2A_uc010ojc.1_Missense_Mutation_p.A230V|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.A50V	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	399	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						ATTACATATGCGGTAGCTGTG	0.557000												
TMEM61	199964	broad.mit.edu	37	1	55457702	55457702	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:55457702G>A	uc001cyd.2	+	3	833	c.559G>A	c.(559-561)GTT>ATT	p.V187I		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	187						integral to membrane					0						TCTTGATGCCGTTTCTGCGGA	0.617000												
TACSTD2	4070	broad.mit.edu	37	1	59042367	59042367	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:59042367G>A	uc001cyz.3	-	1	800	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	154	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					GGTCAATGAGGATGTGGTGGG	0.687000												
GSTM2	2946	broad.mit.edu	37	1	110211979	110211979	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:110211979G>A	uc001dyi.2	+	4	559	c.245G>A	c.(244-246)CGC>CAC	p.R82H	GSTM2_uc001dyj.2_Missense_Mutation_p.R82H|GSTM2_uc010ovt.1_Missense_Mutation_p.R82H|GSTM2_uc009wfk.2_RNA	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	82	GST N-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.572000												
IL6R	3570	broad.mit.edu	37	1	154407589	154407589	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:154407589T>G	uc001fez.1	+	5	1201	c.764T>G	c.(763-765)CTC>CGC	p.L255R	IL6R_uc001ffa.1_Missense_Mutation_p.L255R	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	255	Fibronectin type-III.|Extracellular (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGTTTGAGCTCAGATATCGG	0.483000												
KIRREL	55243	broad.mit.edu	37	1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:158064879G>A	uc001frn.3	+	15	2647	c.2243G>A	c.(2242-2244)CGA>CAA	p.R748Q	KIRREL_uc010pib.1_Missense_Mutation_p.R648Q|KIRREL_uc009wsq.2_Missense_Mutation_p.R584Q|KIRREL_uc001fro.3_Missense_Mutation_p.R562Q|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	748	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TACGGCCAGCGATTCCAGCAG	0.607000												
OR6K6	128371	broad.mit.edu	37	1	158724691	158724691	+	Missense_Mutation	SNP	C	C	T	rs142721506		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:158724691C>T	uc001fsw.1	+	1	86	c.86C>T	c.(85-87)ACG>ATG	p.T29M		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					ACACAGTTGACGGCCAGTGGG	0.433000												
ATP1A4	480	broad.mit.edu	37	1	160146308	160146308	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:160146308G>A	uc001fve.3	+	17	2985	c.2506G>A	c.(2506-2508)GAC>AAC	p.D836N	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.D339N|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	836	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTGAAAGCGACATCATGAA	0.527000												
GPR161	23432	broad.mit.edu	37	1	168074014	168074014	+	Silent	SNP	G	G	T	rs115455892	byFrequency	TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:168074014G>T	uc001gfc.2	-	4	389	c.75C>A	c.(73-75)GGC>GGA	p.G25G	GPR161_uc001gfb.2_Intron|GPR161_uc010pll.1_Intron|GPR161_uc010plm.1_Intron|GPR161_uc009wvo.2_Silent_p.G42G|GPR161_uc001gfd.2_Silent_p.G25G|GPR161_uc010pln.1_Silent_p.G45G|GPR161_uc001gfe.1_Silent_p.G25G	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	25	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					TGATGATGACGCCCCCTTCGC	0.562000												
CFHR2	3080	broad.mit.edu	37	1	196920153	196920153	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:196920153C>G	uc001gtq.1	+	3	502	c.425C>G	c.(424-426)TCC>TGC	p.S142C	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	142	Sushi 2.					extracellular region				skin(2)|ovary(1)	3						AAATGCAGGTCCACTAGTAAG	0.338000												
UCMA	221044	broad.mit.edu	37	10	13275754	13275754	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:13275754C>T	uc001imd.2	-	2	178	c.105G>A	c.(103-105)GCG>GCA	p.A35A		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	35						proteinaceous extracellular matrix					0						CCTCTTCTCCCGCCATCTGCA	0.652000												
GBF1	8729	broad.mit.edu	37	10	104142019	104142019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:104142019G>A	uc001kux.1	+	40	5746	c.5506G>A	c.(5506-5508)GAG>AAG	p.E1836K	GBF1_uc001kuy.1_Missense_Mutation_p.E1832K|GBF1_uc001kuz.1_Missense_Mutation_p.E1833K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1836	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCGCTCATCGAGGCCACCTC	0.632000												
C10orf26	54838	broad.mit.edu	37	10	104569654	104569654	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:104569654C>G	uc001kwe.3	+	3	395	c.135C>G	c.(133-135)TTC>TTG	p.F45L	C10orf26_uc001kwf.3_Missense_Mutation_p.F66L|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	45	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCCAGGGTTCTGGCTGGTGT	0.627000												
C10orf120	399814	broad.mit.edu	37	10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:124457437G>A	uc001lgn.2	-	3	852	c.820C>T	c.(820-822)CGG>TGG	p.R274W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	274										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378000												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653909	5653909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:5653909C>A	uc001mbf.2	+	8	1654	c.1410C>A	c.(1408-1410)TGC>TGA	p.C470*	HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Nonsense_Mutation_p.C116*|TRIM34_uc009yeq.2_Intron|TRIM34_uc001mbi.2_Nonsense_Mutation_p.C116*|TRIM34_uc001mbj.2_Nonsense_Mutation_p.C116*	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	470						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AAGTCATTTGCTGGCTTTGTG	0.502000												
OR52E8	390079	broad.mit.edu	37	11	5878346	5878346	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:5878346G>A	uc010qzr.1	-	1	587	c.587C>T	c.(586-588)GCC>GTC	p.A196V	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGATGCTGGCACAGGCCAG	0.473000												
CCKBR	887	broad.mit.edu	37	11	6291352	6291352	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:6291352G>A	uc001mcp.2	+	3	631	c.438G>A	c.(436-438)GTG>GTA	p.V146V	CCKBR_uc001mcq.2_Silent_p.V74V|CCKBR_uc001mcr.2_Silent_p.V146V|CCKBR_uc001mcs.2_Silent_p.V146V	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	146	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TAAGCCTCGTGGCCATCGCAC	0.597000												
OR2AG2	338755	broad.mit.edu	37	11	6789246	6789246	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:6789246T>C	uc001meq.1	-	1	943	c.943A>G	c.(943-945)ACG>GCG	p.T315A		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	315	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCTAGAGCGTGGAATGTGCC	0.493000												
SPTY2D1	144108	broad.mit.edu	37	11	18637552	18637552	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:18637552T>C	uc001moy.2	-	3	485	c.269A>G	c.(268-270)AAG>AGG	p.K90R	SPTY2D1_uc010rdi.1_Missense_Mutation_p.K90R	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	90										breast(1)	1						GAAATTATCCTTTGTCCTCTT	0.428000												
DCDC1	341019	broad.mit.edu	37	11	31327862	31327862	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:31327862G>T	uc001msv.2	-	5	710	c.508C>A	c.(508-510)CAA>AAA	p.Q170K	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	170	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ACTCTTGGTTGAAGTTTGTGT	0.368000												
OR9G4	283189	broad.mit.edu	37	11	56510534	56510534	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:56510534C>T	uc010rjo.1	-	1	754	c.754G>A	c.(754-756)GCA>ACA	p.A252T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	252	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTGGAGAATGCCTTGTGTCTT	0.473000												
OSBP	5007	broad.mit.edu	37	11	59376145	59376145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:59376145G>A	uc001noc.1	-	3	1114	c.634C>T	c.(634-636)CGG>TGG	p.R212W		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	212					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAGAGGGTCCGAAGGGTATTC	0.468000												
MS4A10	341116	broad.mit.edu	37	11	60559761	60559761	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:60559761G>A	uc001npz.1	+	4	423	c.327G>A	c.(325-327)GCG>GCA	p.A109A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	109	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						GGATCTTGGCGATAACAATGA	0.453000												
SCGB1D1	10648	broad.mit.edu	37	11	61960896	61960896	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:61960896G>A	uc001nsz.1	+	3	316	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	90						extracellular space	binding			skin(1)	1						AAATGTGATCGCTGAGATGTA	0.393000												
NRXN2	9379	broad.mit.edu	37	11	64410011	64410011	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:64410011C>T	uc001oap.2	-	2	776	c.265G>A	c.(265-267)GCC>ACC	p.A89T	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	89	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGCCACTTACCGTGGCCGCCG	0.726000												
GSTP1	2950	broad.mit.edu	37	11	67351315	67351315	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:67351315A>G	uc001omf.2	+	1	250	c.1A>G	c.(1-3)ATG>GTG	p.M1V	GSTP1_uc001omg.1_5'Flank	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	1					anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CTTCGCCACCAGTGAGTACGC	0.726000												
INTS4	92105	broad.mit.edu	37	11	77690106	77690106	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:77690106G>A	uc001oys.2	-	4	435	c.407C>T	c.(406-408)GCA>GTA	p.A136V	INTS4_uc001oyt.2_Intron|INTS4_uc001oyu.1_Missense_Mutation_p.A136V|INTS4_uc001oyv.1_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	136					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGTGCCAATTGCAAGCAAAGT	0.403000												
KDELC2	143888	broad.mit.edu	37	11	108361830	108361830	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:108361830G>A	uc001pkj.2	-	2	333	c.267C>T	c.(265-267)GTC>GTT	p.V89V	KDELC2_uc001pki.2_Silent_p.V33V	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	89	Filamin.					endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AAGGTTTAGGGACATGTATCC	0.383000												
C2CD2L	9854	broad.mit.edu	37	11	118983467	118983467	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:118983467C>T	uc001pvo.2	+	10	1629	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	C2CD2L_uc001pvn.2_Missense_Mutation_p.R424C	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	424						integral to membrane					0						CTCCACTCCACGCCCCAGCAT	0.612000												
CDON	50937	broad.mit.edu	37	11	125875734	125875734	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:125875734G>T	uc009zbw.2	-	9	1899	c.1771C>A	c.(1771-1773)CCA>ACA	p.P591T	CDON_uc001qdb.3_5'Flank|CDON_uc001qdc.3_Missense_Mutation_p.P591T|CDON_uc001qdd.3_RNA	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	591	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TACGTGTCTGGTGTGTGGGTC	0.537000												
WNK1	65125	broad.mit.edu	37	12	1005523	1005523	+	Missense_Mutation	SNP	G	G	A	rs36083875		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:1005523G>A	uc001qio.3	+	24	6377	c.5870G>A	c.(5869-5871)CGT>CAT	p.R1957H	WNK1_uc001qip.3_Missense_Mutation_p.R1709H|WNK1_uc001qir.3_Missense_Mutation_p.R1130H	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1957					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAGTGGGTCGTTTCTCTGTA	0.463000												
PLEKHG6	55200	broad.mit.edu	37	12	6436699	6436699	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:6436699G>A	uc001qnr.2	+	15	2098	c.1950G>A	c.(1948-1950)CCG>CCA	p.P650P	PLEKHG6_uc010sew.1_Silent_p.P650P|PLEKHG6_uc010sex.1_Silent_p.P618P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	650					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						CCGAACTGCCGGAAGGAATCC	0.627000												
OSBPL8	114882	broad.mit.edu	37	12	76780411	76780411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:76780411C>T	uc001sye.1	-	13	1862	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	OSBPL8_uc001syf.1_Missense_Mutation_p.R419H|OSBPL8_uc001syg.1_Missense_Mutation_p.R419H|OSBPL8_uc001syh.1_Missense_Mutation_p.R436H	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	461					lipid transport		lipid binding			ovary(1)	1						TTTCTTCAAACGGAAATAAGG	0.279000												
TRIAP1	51499	broad.mit.edu	37	12	120882752	120882752	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:120882752T>C	uc001tyg.2	-	2	194	c.154A>G	c.(154-156)ATA>GTA	p.I52V	GATC_uc010szi.1_5'Flank	NM_016399	NP_057483	O43715	TRIA1_HUMAN	p53-inducible cell-survival factor	52					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCCTTTATTGCTTTCTGG	0.368000												
RIMBP2	23504	broad.mit.edu	37	12	130897281	130897281	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:130897281G>A	uc001uil.2	-	15	2868	c.2704C>T	c.(2704-2706)CGG>TGG	p.R902W		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	902	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCCAAGCCGGGCACAGGTT	0.458000												
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:20056686T>C	uc001umd.2	-	5	332	c.121A>G	c.(121-123)ATG>GTG	p.M41V	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.M41V|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000												
FREM2	341640	broad.mit.edu	37	13	39262114	39262114	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:39262114C>T	uc001uwv.2	+	1	942	c.633C>T	c.(631-633)CCC>CCT	p.P211P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	211	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTTCCAGCCCGAGACAGAGG	0.657000												
COG6	57511	broad.mit.edu	37	13	40297472	40297472	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:40297472C>G	uc001uxh.2	+	16	1687	c.1587C>G	c.(1585-1587)ATC>ATG	p.I529M	COG6_uc001uxi.2_Missense_Mutation_p.I477M|COG6_uc010acb.2_Missense_Mutation_p.I529M	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	529					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTTAGATCGAAGCACATT	0.378000												
SLITRK5	26050	broad.mit.edu	37	13	88329187	88329187	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:88329187A>G	uc001vln.2	+	2	1763	c.1544A>G	c.(1543-1545)AAC>AGC	p.N515S	SLITRK5_uc010tic.1_Missense_Mutation_p.N274S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	515	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGAATAACAACCTCCTGCAG	0.527000												
GPC5	2262	broad.mit.edu	37	13	92560278	92560278	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:92560278T>A	uc010tif.1	+	6	1734	c.1368T>A	c.(1366-1368)AAT>AAA	p.N456K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	456						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGTGATAAATCAGATTATTG	0.348000												
FRMD6	122786	broad.mit.edu	37	14	52171626	52171626	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:52171626C>A	uc001wzd.2	+	6	816	c.531C>A	c.(529-531)TTC>TTA	p.F177L	FRMD6_uc001wzb.2_Missense_Mutation_p.F169L|FRMD6_uc001wzc.2_Missense_Mutation_p.F169L|FRMD6_uc001wze.2_Missense_Mutation_p.F100L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	177	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAAATACTTCGAGCCAGAGG	0.473000												
PLEKHG3	26030	broad.mit.edu	37	14	65207906	65207906	+	Silent	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:65207906A>G	uc001xho.1	+	16	1940	c.1671A>G	c.(1669-1671)CCA>CCG	p.P557P	PLEKHG3_uc001xhn.1_Silent_p.P501P|PLEKHG3_uc001xhp.2_Silent_p.P678P|PLEKHG3_uc010aqh.1_Silent_p.P99P|PLEKHG3_uc001xhq.1_Silent_p.P62P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	557					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGGACCCCCCAGGTGACATGG	0.612000												
C14orf159	80017	broad.mit.edu	37	14	91642287	91642287	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:91642287G>A	uc001xzb.2	+	9	1370	c.602G>A	c.(601-603)GGA>GAA	p.G201E	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.G206E|C14orf159_uc001xyx.2_Missense_Mutation_p.G189E|C14orf159_uc001xyw.2_Missense_Mutation_p.G206E|C14orf159_uc001xzc.2_Missense_Mutation_p.G201E|C14orf159_uc001xza.2_Missense_Mutation_p.G206E|C14orf159_uc001xyv.2_Missense_Mutation_p.G206E|C14orf159_uc001xyz.2_Missense_Mutation_p.G77E|C14orf159_uc001xze.2_Missense_Mutation_p.G201E	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	201						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAACTGTTGGGAATCAAAGAG	0.488000												
BDKRB2	624	broad.mit.edu	37	14	96706782	96706782	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:96706782C>T	uc010avm.1	+	3	313	c.117C>T	c.(115-117)AAC>AAT	p.N39N	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.N12N|BDKRB2_uc001yfg.2_Silent_p.N39N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	39	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCACTCTTAACGGGACCTTTG	0.577000												
AKT1	207	broad.mit.edu	37	14	105237106	105237106	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:105237106T>C	uc001ypk.2	-	13	1893	c.1339A>G	c.(1339-1341)ATC>GTC	p.I447V	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.I447V|AKT1_uc010axa.2_Missense_Mutation_p.I447V|AKT1_uc001ypm.2_Missense_Mutation_p.I447V|AKT1_uc001ypn.2_Missense_Mutation_p.I447V|AKT1_uc001ypj.2_RNA|AKT1_uc010tyk.1_Missense_Mutation_p.I385V	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	447	AGC-kinase C-terminal.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GTGATGGTGATCATCTGGGCC	0.592000		1	Mis		breast|colorectal|ovarian|NSCLC						OREG0022961	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C15orf2	23742	broad.mit.edu	37	15	24921489	24921489	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:24921489A>G	uc001ywo.2	+	1	949	c.475A>G	c.(475-477)AGA>GGA	p.R159G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	159					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGGGCCCAGAAGAGTGAAGAA	0.617000												
EIF2AK4	440275	broad.mit.edu	37	15	40284379	40284379	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:40284379G>C	uc001zkm.1	+	17	2685	c.2635G>C	c.(2635-2637)GAC>CAC	p.D879H	EIF2AK4_uc010bbj.1_Missense_Mutation_p.D580H|EIF2AK4_uc001zkn.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	879	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTTTTAGGCTGACAGCAAACA	0.353000												
SLC12A1	6557	broad.mit.edu	37	15	48536975	48536975	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:48536975C>T	uc001zwn.3	+	11	1542	c.1326C>T	c.(1324-1326)ACC>ACT	p.T442T	SLC12A1_uc010uew.1_Silent_p.T248T|SLC12A1_uc010bem.2_Silent_p.T442T|SLC12A1_uc001zwq.3_Silent_p.T213T|SLC12A1_uc001zwr.3_Silent_p.T169T	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	442					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAGATGCCACCGGGAACATGA	0.468000												
DMXL2	23312	broad.mit.edu	37	15	51742428	51742428	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:51742428C>T	uc002abf.2	-	42	9024	c.8799G>A	c.(8797-8799)CAG>CAA	p.Q2933Q	DMXL2_uc002abd.2_Silent_p.Q1025Q|DMXL2_uc010ufy.1_Silent_p.Q2934Q|DMXL2_uc010bfa.2_Silent_p.Q2297Q|DMXL2_uc002abc.2_RNA	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2933	WD 14.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGTGAATGAGCTGCCTTTGCC	0.488000												
WDR72	256764	broad.mit.edu	37	15	53889438	53889438	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:53889438C>T	uc002acj.2	-	18	3028	c.2986G>A	c.(2986-2988)GAA>AAA	p.E996K		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	996										lung(1)|skin(1)	2				all cancers(107;0.0511)		TGTTGAACTTCCGCCAAGAGA	0.383000												
ERN2	10595	broad.mit.edu	37	16	23713854	23713854	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:23713854C>T	uc002dma.3	-	10	1251	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	ERN2_uc010bxp.2_Missense_Mutation_p.R361H|ERN2_uc010bxq.1_Missense_Mutation_p.R169H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	313	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGTCAGTCCACGAGGCTATGG	0.587000												
CDH8	1006	broad.mit.edu	37	16	62055135	62055135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:62055135C>T	uc002eog.1	-	2	425	c.173G>A	c.(172-174)CGC>CAC	p.R58H		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	58					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTTTGGAGCGGTTCAAAAT	0.438000												
PHLPP2	23035	broad.mit.edu	37	16	71712742	71712742	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:71712742C>T	uc002fax.2	-	7	1190	c.1184G>A	c.(1183-1185)AGA>AAA	p.R395K	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R395K|PHLPP2_uc002fay.1_Missense_Mutation_p.R395K	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	395	LRR 7.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CATAACCACTCTATCTAACAT	0.388000												
ZC3H18	124245	broad.mit.edu	37	16	88689644	88689644	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:88689644C>T	uc002fky.2	+	10	1885	c.1685C>T	c.(1684-1686)TCG>TTG	p.S562L	ZC3H18_uc010voz.1_Missense_Mutation_p.S586L|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	562	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCGCGGTCATCGTCCTACTCT	0.562000												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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)		
KCNJ12	3768	broad.mit.edu	37	17	21319795	21319795	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:21319795C>T	uc002gyv.1	+	3	1846	c.1141C>T	c.(1141-1143)CTG>TTG	p.L381L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	381	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CGAGAACGAGCTGGCCTTCCT	0.637000										Prostate(3;0.18)		
BRCA1	672	broad.mit.edu	37	17	41209095	41209095	+	Nonsense_Mutation	SNP	G	G	A	rs80357123		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:41209095G>A	uc002icq.2	-	19	5483	c.5251C>T	c.(5251-5253)CGA>TGA	p.R1751*	BRCA1_uc010whp.1_Nonsense_Mutation_p.R600*|BRCA1_uc010whl.1_Nonsense_Mutation_p.R647*|BRCA1_uc010whm.1_Nonsense_Mutation_p.R61*|BRCA1_uc002icp.3_Nonsense_Mutation_p.R1680*|BRCA1_uc002icu.2_Nonsense_Mutation_p.R647*|BRCA1_uc010cyx.2_Nonsense_Mutation_p.R1704*|BRCA1_uc002ict.2_Nonsense_Mutation_p.R1772*|BRCA1_uc010whn.1_Nonsense_Mutation_p.R242*|BRCA1_uc010who.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1751					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1751*(1)		ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTCTTGCTCGCTTTGGACCT	0.463000			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
GPATCH8	23131	broad.mit.edu	37	17	42478511	42478511	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:42478511G>A	uc002igw.1	-	8	998	c.934C>T	c.(934-936)CTC>TTC	p.L312F	GPATCH8_uc002igv.1_Missense_Mutation_p.L234F|GPATCH8_uc010wiz.1_Missense_Mutation_p.L234F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	312						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGATTCGAGTTTGACAGGA	0.458000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RGS9	8787	broad.mit.edu	37	17	63200383	63200383	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:63200383C>T	uc002jfe.2	+	15	1277	c.1167C>T	c.(1165-1167)GAC>GAT	p.D389D	RGS9_uc010dem.2_Silent_p.D386D|RGS9_uc002jfd.2_Silent_p.D386D|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.D160D	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	389	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						ATGTGCTGGACGCCGCACAAA	0.562000												
ANKRD12	23253	broad.mit.edu	37	18	9211713	9211713	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr18:9211713C>G	uc002knv.2	+	6	840	c.583C>G	c.(583-585)CGA>GGA	p.R195G	ANKRD12_uc010wzn.1_Missense_Mutation_p.R195G|ANKRD12_uc002knw.2_Missense_Mutation_p.R172G|ANKRD12_uc002knx.2_Missense_Mutation_p.R172G	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	195	ANK 1.					nucleus				ovary(2)|central_nervous_system(1)	3						GGCTGCTATTCGAGGAGATGT	0.358000												
SMAD4	4089	broad.mit.edu	37	18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr18:48591888G>T	uc010xdp.1	+	9	1589	c.1051G>T	c.(1051-1053)GAT>TAT	p.D351Y	SMAD4_uc002lfb.3_Missense_Mutation_p.D196Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.D351H(7)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438000									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
TBXA2R	6915	broad.mit.edu	37	19	3595741	3595741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:3595741C>T	uc002lyg.1	-	3	1191	c.977G>A	c.(976-978)CGG>CAG	p.R326Q	TBXA2R_uc002lye.1_Silent_p.P196P	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	326	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGACCTGGGCCGGGTGCTGAG	0.697000												
UNC13A	23025	broad.mit.edu	37	19	17746834	17746834	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:17746834G>T	uc002nhd.2	-	26	3478	c.3478C>A	c.(3478-3480)CAG>AAG	p.Q1160K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1072					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ACAACTCACTGGTTGAGGCAG	0.433000												
KIAA1683	80726	broad.mit.edu	37	19	18376067	18376067	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:18376067C>T	uc002nin.2	-	3	2499	c.2283G>A	c.(2281-2283)CAG>CAA	p.Q761Q	KIAA1683_uc010ebn.2_Silent_p.Q761Q|KIAA1683_uc010xqe.1_Silent_p.Q715Q	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	761						mitochondrion				ovary(2)	2						GATCAGCAGCCTGGTGCGCTG	0.647000												
ZNF208	7757	broad.mit.edu	37	19	22157559	22157559	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:22157559C>T	uc002nqp.2	-	4	426	c.277G>A	c.(277-279)GAT>AAT	p.D93N	ZNF208_uc002nqo.1_Missense_Mutation_p.D93N|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGAAAGAATCTTCTATGCCC	0.328000												
ZNF571	51276	broad.mit.edu	37	19	38056530	38056530	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:38056530G>C	uc002ogt.2	-	4	901	c.800C>G	c.(799-801)ACT>AGT	p.T267S	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.T267S	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	267	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAAGAGTATATTGTGA	0.378000												
DLL3	10683	broad.mit.edu	37	19	39995913	39995913	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:39995913C>T	uc002olx.2	+	6	973	c.915C>T	c.(913-915)TAC>TAT	p.Y305Y	DLL3_uc010egq.2_Silent_p.Y305Y|DLL3_uc002olw.2_Silent_p.Y305Y	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	305	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTGGGTTCTACGGGCTGCGGT	0.587000												
CYP2A6	1548	broad.mit.edu	37	19	41352824	41352824	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:41352824A>T	uc002opl.3	-	5	808	c.787T>A	c.(787-789)TCC>ACC	p.S263T	CYP2A6_uc010ehe.1_Missense_Mutation_p.S59T|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	263					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TCCCGTGGGGAATTGGGATCC	0.582000												
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:41388043G>T	uc002opm.2	-	1	615	c.73C>A	c.(73-75)CAG>AAG	p.Q25K	CYP2A7_uc002opo.2_Intron|CYP2A7_uc002opn.2_Missense_Mutation_p.Q25K	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	25						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572000												
CEACAM8	1088	broad.mit.edu	37	19	43093141	43093141	+	Silent	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:43093141T>C	uc002oud.2	-	4	855	c.753A>G	c.(751-753)GCA>GCG	p.A251A	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	251	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GATTTACCCCTGCATGGTAAT	0.493000												
PNMAL2	57469	broad.mit.edu	37	19	46997202	46997202	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:46997202C>T	uc002pes.2	-	1	1968	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	507										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ACTGTTCGTCCGAAGCCTCCT	0.672000												
ZSCAN18	65982	broad.mit.edu	37	19	58596563	58596563	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:58596563G>A	uc002qri.2	-	7	1331	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A340V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A205V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A341V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A397V|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCGGACTCCGCGTCCTGGGG	0.721000												
GREB1	9687	broad.mit.edu	37	2	11774338	11774338	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:11774338C>T	uc002rbk.1	+	29	5373	c.5073C>T	c.(5071-5073)TAC>TAT	p.Y1691Y	GREB1_uc002rbp.1_Silent_p.Y689Y	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1691						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATGCACTACGCCCTGCTGG	0.612000												
DHX57	90957	broad.mit.edu	37	2	39040977	39040977	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:39040977G>C	uc002rrf.2	-	21	3766	c.3667C>G	c.(3667-3669)CCA>GCA	p.P1223A	DHX57_uc002rrd.3_Missense_Mutation_p.P607A|DHX57_uc002rre.2_Missense_Mutation_p.P656A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1223							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ACTACATTTGGATACAAAGCA	0.363000												
CTNNA2	1496	broad.mit.edu	37	2	80835419	80835419	+	Silent	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:80835419G>T	uc010ysh.1	+	16	2411	c.2406G>T	c.(2404-2406)CTG>CTT	p.L802L	CTNNA2_uc010yse.1_Silent_p.L802L|CTNNA2_uc010ysf.1_Silent_p.L802L|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Silent_p.L434L|CTNNA2_uc010ysj.1_Silent_p.L131L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	802					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						TGCAGAATCTGGGAGGAGAGC	0.468000												
CNTNAP5	129684	broad.mit.edu	37	2	125405450	125405450	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:125405450G>C	uc002tno.2	+	13	2353	c.1989G>C	c.(1987-1989)CAG>CAC	p.Q663H	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q664H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	663	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCATGGAACAGCTGGAGGCCG	0.622000												
TBR1	10716	broad.mit.edu	37	2	162274733	162274733	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:162274733C>T	uc002ubw.1	+	3	1171	c.869C>T	c.(868-870)CCG>CTG	p.P290L	TBR1_uc010foy.2_Missense_Mutation_p.P3L	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	290	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TATATGCATCCGGATTCCCCC	0.443000												
KCNH7	90134	broad.mit.edu	37	2	163302875	163302875	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:163302875A>G	uc002uch.1	-	7	1419	c.1207T>C	c.(1207-1209)TAC>CAC	p.Y403H	KCNH7_uc002uci.2_Missense_Mutation_p.Y396H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	403	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AAAGGGCTGTAGTGCAATATC	0.448000												
KCTD18	130535	broad.mit.edu	37	2	201357899	201357899	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:201357899T>C	uc002uvs.2	-	6	1277	c.760A>G	c.(760-762)AAG>GAG	p.K254E	KCTD18_uc002uvt.2_Missense_Mutation_p.K254E	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						GATAACCTCTTTCGAATTGGA	0.408000												
CXCR7	57007	broad.mit.edu	37	2	237489189	237489189	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:237489189C>T	uc010fyq.2	+	3	311	c.81C>T	c.(79-81)ATC>ATT	p.I27I	CXCR7_uc002vwd.2_Silent_p.I27I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	27	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCGACTGCATCGTGGTGGACA	0.522000												
XKR7	343702	broad.mit.edu	37	20	30584668	30584668	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:30584668G>A	uc002wxe.2	+	3	1322	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	383						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCGCCGCCGCATGACCCTC	0.577000												
C20orf185	359710	broad.mit.edu	37	20	31644485	31644485	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:31644485G>A	uc002wym.1	+	2	262	c.262G>A	c.(262-264)GTT>ATT	p.V88I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	88	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						GGTTTTTGGCGTTGTCGAGGA	0.577000												
RBL1	5933	broad.mit.edu	37	20	35632270	35632270	+	Splice_Site	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:35632270C>G	uc002xgi.2	-	21	2951	c.2872_splice	c.e21-1	p.M958_splice	RBL1_uc010zvt.1_Splice_Site|RBL1_uc002xgj.1_Intron	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a						cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GAGCATCCATCTAAAATAACC	0.368000												
SLC35C2	51006	broad.mit.edu	37	20	44987061	44987061	+	Missense_Mutation	SNP	T	T	A	rs147781798		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:44987061T>A	uc002xro.2	-	2	626	c.85A>T	c.(85-87)ATC>TTC	p.I29F	SLC35C2_uc002xrp.2_Missense_Mutation_p.I29F|SLC35C2_uc002xrq.2_Missense_Mutation_p.I29F|SLC35C2_uc002xrr.2_Missense_Mutation_p.I29F|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.I58F	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	29	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GTGATGCCGATGGAGAAGCAG	0.612000												
SYCP2	10388	broad.mit.edu	37	20	58495501	58495501	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:58495501C>T	uc002yaz.2	-	4	349	c.210G>A	c.(208-210)TTG>TTA	p.L70L	SYCP2_uc010gju.1_5'Flank	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	70					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAACAGAAACCAAAATGGCTG	0.303000												
TMPRSS15	5651	broad.mit.edu	37	21	19653455	19653455	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:19653455C>T	uc002ykw.2	-	22	2601	c.2570G>A	c.(2569-2571)CGA>CAA	p.R857Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	857	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						ATCTATTAATCGAGGGACTGT	0.393000												
GRIK1	2897	broad.mit.edu	37	21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:31066220C>T	uc002yno.1	-	2	745	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	GRIK1_uc002ynn.2_Missense_Mutation_p.R94Q|GRIK1_uc011acs.1_Missense_Mutation_p.R94Q|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.R94Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	94	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433000												
GART	2618	broad.mit.edu	37	21	34889792	34889792	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:34889792T>A	uc002yrx.2	-	15	1961	c.1826A>T	c.(1825-1827)GAT>GTT	p.D609V	GART_uc002yrz.2_Missense_Mutation_p.D609V|GART_uc010gmd.2_Missense_Mutation_p.D271V|GART_uc002yry.2_Missense_Mutation_p.D609V	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	609	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	AACAACAACATCACCCTCAGT	0.488000												
DGCR8	54487	broad.mit.edu	37	22	20079078	20079078	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr22:20079078C>T	uc002zri.2	+	6	1777	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	DGCR8_uc010grz.2_Missense_Mutation_p.A476V|DGCR8_uc002zrj.2_Missense_Mutation_p.A119V	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	476	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CGGAAGCAGGCGGAGTCCGAG	0.473000												
GRM7	2917	broad.mit.edu	37	3	6903381	6903381	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:6903381C>T	uc003bqm.2	+	1	580	c.306C>T	c.(304-306)GGC>GGT	p.G102G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	102	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGACGCTGGGCGCGCGGATCC	0.587000												
ROBO2	6092	broad.mit.edu	37	3	77607240	77607240	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:77607240G>A	uc003dpy.3	+	9	2020	c.1377G>A	c.(1375-1377)CCG>CCA	p.P459P	ROBO2_uc003dpz.2_Silent_p.P463P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P463P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	459	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTACTTTTCCGGGTAGAGATC	0.418000												
PLXNA1	5361	broad.mit.edu	37	3	126707595	126707595	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:126707595C>G	uc003ejg.2	+	1	94	c.90C>G	c.(88-90)CAC>CAG	p.H30Q		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	53	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCCTCACCCACCTAGTGGTGC	0.647000												
NMD3	51068	broad.mit.edu	37	3	160964220	160964220	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:160964220G>A	uc003feb.1	+	12	1233	c.1114G>A	c.(1114-1116)GGA>AGA	p.G372R	NMD3_uc003fec.2_Missense_Mutation_p.G372R|NMD3_uc003fed.1_Missense_Mutation_p.G372R|NMD3_uc010hwh.2_Missense_Mutation_p.G192R	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	372					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCTAAATCCCGGAGACCTGGT	0.368000												
CHRD	8646	broad.mit.edu	37	3	184101158	184101158	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:184101158C>T	uc003fov.2	+	11	1518	c.1272C>T	c.(1270-1272)GCC>GCT	p.A424A	CHRD_uc003fow.2_Silent_p.A54A|CHRD_uc003fox.2_Silent_p.A424A|CHRD_uc003foy.2_Silent_p.A54A|CHRD_uc010hyc.2_Silent_p.A54A|CHRD_uc011brr.1_Silent_p.A54A	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	424	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGGTGCTGCCGGCTCAGCCA	0.627000												
KCTD8	386617	broad.mit.edu	37	4	44450414	44450414	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:44450414G>C	uc003gwu.2	-	1	411	c.127C>G	c.(127-129)CCT>GCT	p.P43A		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	43						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P43L(1)		central_nervous_system(2)|ovary(1)	3						ACTACTTCAGGGAAGGGCGAG	0.498000										HNSCC(17;0.042)		
ANKRD17	26057	broad.mit.edu	37	4	74005554	74005554	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:74005554C>T	uc003hgp.2	-	15	2896	c.2779G>A	c.(2779-2781)GCA>ACA	p.A927T	ANKRD17_uc003hgo.2_Missense_Mutation_p.A814T|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A927T|ANKRD17_uc011cbd.1_Missense_Mutation_p.A492T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	927	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTAACCGTGCATAGTCTCCC	0.493000												
PCDH10	57575	broad.mit.edu	37	4	134073626	134073626	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:134073626G>A	uc003iha.2	+	1	3157	c.2331G>A	c.(2329-2331)GCG>GCA	p.A777A	PCDH10_uc003igz.2_Silent_p.A777A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGCCCGGGCGCGCAAGAAGA	0.602000												
DCHS2	54798	broad.mit.edu	37	4	155156232	155156232	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:155156232T>A	uc003inw.2	-	25	8207	c.8207A>T	c.(8206-8208)GAG>GTG	p.E2736V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2736					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCTTTTGCCTCTCTCTTCTG	0.483000												
FBXL7	23194	broad.mit.edu	37	5	15928122	15928122	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:15928122C>T	uc003jfn.1	+	3	732	c.251C>T	c.(250-252)ACG>ATG	p.T84M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	84					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						ACCGGGGAGACGGTGGCCATG	0.662000												
DMGDH	29958	broad.mit.edu	37	5	78329126	78329126	+	Silent	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:78329126G>T	uc003kfs.2	-	8	1305	c.1299C>A	c.(1297-1299)GGC>GGA	p.G433G	DMGDH_uc011cte.1_Silent_p.G283G|DMGDH_uc011ctf.1_Silent_p.G232G|DMGDH_uc011ctg.1_Silent_p.G53G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	433					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGTCCATTTGCCATAGCGAT	0.428000												
APC	324	broad.mit.edu	37	5	112179441	112179441	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:112179441G>C	uc010jby.2	+	16	8530	c.8150G>C	c.(8149-8151)GGT>GCT	p.G2717A	APC_uc011cvt.1_Missense_Mutation_p.G2699A|APC_uc003kpz.3_Missense_Mutation_p.G2717A|APC_uc003kpy.3_Missense_Mutation_p.G2717A|APC_uc010jbz.2_Missense_Mutation_p.G2434A|APC_uc010jca.2_Missense_Mutation_p.G2017A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2717	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGTACCGTGGGTTTGGAAAAT	0.418000		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
PCDHA4	56144	broad.mit.edu	37	5	140188818	140188818	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:140188818G>A	uc003lhi.2	+	1	2147	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637000												
PCDHGB1	56104	broad.mit.edu	37	5	140731844	140731844	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:140731844G>A	uc003ljo.1	+	1	2017	c.2017G>A	c.(2017-2019)GAC>AAC	p.D673N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.D673N|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	673	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTCAGCGACCGCCCTGA	0.607000												
SCGB3A2	117156	broad.mit.edu	37	5	147261134	147261134	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:147261134G>C	uc003lot.1	+	2	274	c.181G>C	c.(181-183)GAG>CAG	p.E61Q		NM_054023	NP_473364	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2 precursor	61						extracellular region	binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTCTGTTGAGCACCTTGT	0.483000												
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:154395374G>A	uc010jih.1	+	1	2115	c.1955G>A	c.(1954-1956)CGT>CAT	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408000												
EBF1	1879	broad.mit.edu	37	5	158250212	158250212	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:158250212C>T	uc010jip.2	-	8	1052	c.750G>A	c.(748-750)TCG>TCA	p.S250S	EBF1_uc011ddw.1_Silent_p.S117S|EBF1_uc011ddx.1_Silent_p.S250S|EBF1_uc003lxl.3_Silent_p.S227S	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	250					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTACCTTCCGAGGGGTCAA	0.468000			T	HMGA2	lipoma							
HMP19	51617	broad.mit.edu	37	5	173534384	173534384	+	Missense_Mutation	SNP	G	G	A	rs147555850		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:173534384G>A	uc003mcx.2	+	5	537	c.392G>A	c.(391-393)CGC>CAC	p.R131H	HMP19_uc011dfh.1_Missense_Mutation_p.A35T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	131	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAGAAGCCGCTTCTACACA	0.592000												
RNF182	221687	broad.mit.edu	37	6	13977677	13977677	+	Silent	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:13977677G>T	uc003nbe.2	+	3	745	c.327G>T	c.(325-327)CTG>CTT	p.L109L	RNF182_uc003nbf.2_Silent_p.L109L|RNF182_uc003nbg.2_Silent_p.L109L	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	109						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CTGAGCTGCTGCTCACCCCCA	0.542000												
C6orf81	221481	broad.mit.edu	37	6	35705833	35705833	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:35705833C>T	uc003ola.2	+	2	301	c.274C>T	c.(274-276)CGG>TGG	p.R92W	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Missense_Mutation_p.R65W	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	65							binding			ovary(1)	1						GCGGCACGGGCGGGACTCAGG	0.572000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EFHC1	114327	broad.mit.edu	37	6	52288904	52288904	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:52288904G>A	uc003pap.3	+	2	439	c.224G>A	c.(223-225)GGC>GAC	p.G75D	EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Missense_Mutation_p.G56D	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	75						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TTAACTTATGGCCAACCTAAA	0.512000												
BMP5	653	broad.mit.edu	37	6	55638913	55638913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:55638913G>A	uc003pcq.2	-	4	1673	c.961C>T	c.(961-963)CGA>TGA	p.R321*	BMP5_uc011dxf.1_Nonsense_Mutation_p.R321*	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGATTTTTTCGTTTGTTGGCT	0.473000												
ZNF292	23036	broad.mit.edu	37	6	87971420	87971420	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:87971420C>T	uc003plm.3	+	8	8114	c.8073C>T	c.(8071-8073)ACC>ACT	p.T2691T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGAAACCTACCGTCAGTCTGA	0.363000												
NMBR	4829	broad.mit.edu	37	6	142409655	142409655	+	Silent	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:142409655C>T	uc003qiu.2	-	1	282	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	47	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGTAGAGGGACGGGATCACAC	0.602000												
SDK1	221935	broad.mit.edu	37	7	4007048	4007048	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:4007048G>A	uc003smx.2	+	10	1667	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	510	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCAAACCCGCCATCACCTG	0.547000												
THSD7A	221981	broad.mit.edu	37	7	11581178	11581178	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:11581178C>T	uc003ssf.3	-	6	1942	c.1690G>A	c.(1690-1692)GAA>AAA	p.E564K		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	564	TSP type-1 5.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAATGGCTTCCAGTAAGTGA	0.542000										HNSCC(18;0.044)		
GLI3	2737	broad.mit.edu	37	7	42004061	42004061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:42004061C>T	uc011kbh.1	-	15	4701	c.4610G>A	c.(4609-4611)CGC>CAC	p.R1537H	GLI3_uc011kbg.1_Missense_Mutation_p.R1478H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1537					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGTGGTGAGGCGGGAGGAGCT	0.587000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
PPP1R3A	5506	broad.mit.edu	37	7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:113558904C>T	uc010ljy.1	-	1	179	c.148G>A	c.(148-150)GAA>AAA	p.E50K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	50					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TATATGTCTTCAGAAGAATCA	0.388000												
DLC1	10395	broad.mit.edu	37	8	12957582	12957582	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:12957582G>A	uc003wwm.2	-	9	2708	c.2264C>T	c.(2263-2265)ACG>ATG	p.T755M	DLC1_uc003wwk.1_Missense_Mutation_p.T318M|DLC1_uc003wwl.1_Missense_Mutation_p.T352M|DLC1_uc011kxx.1_Missense_Mutation_p.T244M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	755					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGGGCTGGGCGTGCTGACCGC	0.582000												
TUSC3	7991	broad.mit.edu	37	8	15517142	15517142	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:15517142A>G	uc003wwt.2	+	4	763	c.553A>G	c.(553-555)AGA>GGA	p.R185G	TUSC3_uc003wwr.2_Missense_Mutation_p.R185G|TUSC3_uc003wws.2_Missense_Mutation_p.R185G|TUSC3_uc003wwu.2_Missense_Mutation_p.R185G|TUSC3_uc003wwv.2_Missense_Mutation_p.R185G|TUSC3_uc003www.2_Missense_Mutation_p.R185G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R185G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	185					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GATTGCTGACAGAACGGATGT	0.373000												
CHD7	55636	broad.mit.edu	37	8	61655066	61655066	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:61655066C>G	uc003xue.2	+	2	1552	c.1075C>G	c.(1075-1077)CAA>GAA	p.Q359E		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	359					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACAGTGGTCAAGGACTAAT	0.453000												
LRP12	29967	broad.mit.edu	37	8	105521183	105521183	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:105521183C>T	uc003yma.2	-	3	351	c.256G>A	c.(256-258)GAA>AAA	p.E86K	LRP12_uc003ymb.2_Missense_Mutation_p.E67K|LRP12_uc003ymc.3_Missense_Mutation_p.E67K	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	86	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTAATGATTTCGCCTGGGTTT	0.348000												
ADCY8	114	broad.mit.edu	37	8	132052325	132052325	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:132052325G>A	uc003ytd.3	-	1	511	c.255C>T	c.(253-255)GGC>GGT	p.G85G	ADCY8_uc010mds.2_Silent_p.G85G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	85	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGCCGAGTCGCCTGACAGCT	0.741000										HNSCC(32;0.087)		
RANBP6	26953	broad.mit.edu	37	9	6015555	6015555	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:6015555T>G	uc003zjr.2	-	1	64	c.53A>C	c.(52-54)GAG>GCG	p.E18A	RANBP6_uc011lmf.1_Missense_Mutation_p.E18A|RANBP6_uc003zjs.2_5'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	18					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGGTAAAACTCTTGCTTTTC	0.552000												
WDR31	114987	broad.mit.edu	37	9	116093383	116093383	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:116093383T>C	uc004bhe.2	-	4	382	c.130A>G	c.(130-132)ATT>GTT	p.I44V	WDR31_uc004bhc.2_Missense_Mutation_p.I43V|WDR31_uc004bhd.2_Intron|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	44											0						TCTTCTATAATTTCATCAGGC	0.373000												
LAMC3	10319	broad.mit.edu	37	9	133952593	133952593	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:133952593G>T	uc004caa.1	+	22	3747	c.3649G>T	c.(3649-3651)GCC>TCC	p.A1217S	LAMC3_uc010mze.1_5'Flank	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1217	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTCCAGGCGGCCCAGAAAGC	0.652000												
NOTCH1	4851	broad.mit.edu	37	9	139397647	139397647	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:139397647G>A	uc004chz.2	-	27	5154	c.5154C>T	c.(5152-5154)ATC>ATT	p.I1718I	NOTCH1_uc004cia.1_Silent_p.I948I	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1718	Extracellular (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.1719_1720>QKGPLAAFLGALASLGSLTIPYLI(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGGCCTCGATCTTGTAGG	0.667000			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
MAGEE1	57692	broad.mit.edu	37	X	75650189	75650189	+	Silent	SNP	G	G	A			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:75650189G>A	uc004ecm.1	+	1	2073	c.1866G>A	c.(1864-1866)GGG>GGA	p.G622G		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	622	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCATTTTTGGGAACCCAAAGA	0.488000												
DCAF12L2	340578	broad.mit.edu	37	X	125299671	125299671	+	Silent	SNP	G	G	C			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:125299671G>C	uc004euk.1	-	1	264	c.237C>G	c.(235-237)GCC>GCG	p.A79A		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCCTCTGGACGGCGTAGCCCC	0.701000												
ANO6	196527	broad.mit.edu	37	12	45742406	45742427	+	Splice_Site	DEL	CTCCATGATGTAAGTTAAAAGG	CTCCATGATGTAAGTTAAAAGG	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:45742405_45742426ACTCCATGATGTAAGTTAAAAGG>A	uc010slf.2	+	7	1145	c.810_splice	c.e7+1	p.D270_splice	ANO6_uc001roo.3_Splice_Site_p.D249_splice|ANO6_uc010sld.1_Splice_Site_p.D249_splice|ANO6_uc010sle.1_Splice_Site_p.D249_splice|ANO6_uc010slg.2_Splice_Site_p.D231_splice	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	249					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGCTTTCCCACTCCATGATGTAAGTTAAAAGGCAAAAATGA	0.401												
ABCA10	10349	broad.mit.edu	37	17	67151161	67151162	+	Splice_Site	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:67151160_67151161C>CT	uc010dfa.1	-	31	4573	c.3694_splice	c.e31+1	p.G1232_splice	ABCA10_uc010wqs.1_Splice_Site_p.G224_splice|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1232	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTCAAACCTTTTTTAACAC	0.282												
DDX19B	11269	broad.mit.edu	37	16	70359577	70359579	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:70359577_70359579delTTC	uc002eyo.2	+	7	722_724	c.593_595delTTC	c.(592-597)GTTCGA>GGA	p.198_199VR>G	DDX19B_uc010vly.1_In_Frame_Del_p.198_199VR>G|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_In_Frame_Del_p.172_173VR>G|DDX19B_uc010vlw.1_In_Frame_Del_p.89_90VR>G|DDX19B_uc002eyp.2_In_Frame_Del_p.167_168VR>G|DDX19B_uc002eyq.2_In_Frame_Del_p.89_90VR>G|DDX19B_uc002eyr.2_In_Frame_Del_p.47_48VR>G|DDX19B_uc010vlx.1_In_Frame_Del_p.47_48VR>G|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	198_199	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GCTTATGCTGTTCGAGGCAATAA	0.315												
ABCA10	10349	broad.mit.edu	37	17	67151160	67151161	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:67151160_67151161insT	uc010dfa.1	-	31	4572_4573	c.3693_3694insA	c.(3691-3696)AAAGGTfs	p.K1231fs	ABCA10_uc010wqs.1_Frame_Shift_Ins_p.K223fs|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1231_1232	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TTGTTCAAACCTTTTTTAACAC	0.282												
ITGB8	3696	broad.mit.edu	37	7	20371449	20371450	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:20371449_20371450insT	uc003suu.2	+	1	725_726	c.20_21insT	c.(19-21)GCTfs	p.A7fs	ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	7					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						TCGGCCCTGGCTTTTTTTACCG	0.564												
CCDC22	28952	broad.mit.edu	37	X	49099415	49099415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:49099415delG	uc004dnd.1	+	4	581	c.425delG	c.(424-426)TGGfs	p.W142fs	CCDC22_uc011mna.1_Frame_Shift_Del_p.W142fs|CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	142										central_nervous_system(1)	1						GCACTGCCTTGGGTCCCGCCC	0.592												
PPM1M	132160	broad.mit.edu	37	3	52282219	52282220	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:52282218_52282219A>ACC	uc011bed.2	+	4	792_793	c.760_761A>ACC	c.(760-762)accfs	p.T254fs	PPM1M_uc003ddf.4_Frame_Shift_Ins_p.T93fs|PPM1M_uc003ddg.4_Frame_Shift_Ins_p.T42fs|PPM1M_uc003ddh.4_5'Flank	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	93					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CTTCGAGTTCACCCCAGAGACT	0.604												
HIST1H2BG	8339	broad.mit.edu	37	6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:26216796_26216798CCTT>C	uc003ngz.2	-	0	75_77	c.74_76AAGG>G	c.(73-78)aaggat>aGat	p.25_26KD>R	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCTTGCCATCCTTCTTCTGCGC	0.517												
DOM3Z	1797	broad.mit.edu	37	6	31938777	31938809	+	In_Frame_Del	DEL	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:31938776_31938808TCGGTGTCTCCACTTCACTCAGGTATAGTGTTCC>T	uc003nyp.1	-	2	806_838	c.473_505GGAACACTATACCTGAGTGAAGTGGAGACACCGA>A	c.(472-507)ggaacactatacctgagtgaagtggagacaccgaac>gAac	p.158_169GTLYLSEVETPN>E	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	158							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCCGAGCGTTCGGTGTCTCCACTTCACTCAGGTATAGTGTTCCCTGGAACCG	0.601												
ITGB8	3696	broad.mit.edu	37	7	20371450	20371451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:20371449_20371450C>CT	uc003suu.3	+	0	725_726	c.20_21C>CT	c.(19-21)gctfs	p.A7fs	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	7					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGGCCCTGGCTTTTTTTACCG	0.668												
IPO7	10527	broad.mit.edu	37	11	9457876	9457878	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:9457875_9457877GTCA>G	uc001mho.3	+	19	2372_2374	c.2230_2232GTCA>G	c.(2230-2232)gtc>G	p.V744del		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	744					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTGTTAGAGGTCATCATTCTGC	0.404												
ANO6	196527	broad.mit.edu	37	12	45742406	45742427	+	Splice_Site	DEL	CTCCATGATGTAAGTTAAAAGG	CTCCATGATGTAAGTTAAAAGG	-			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:45742405_45742426ACTCCATGATGTAAGTTAAAAGG>A	uc010slf.2	+	7	1145	c.810_splice	c.e7+1	p.D270_splice	ANO6_uc001roo.3_Splice_Site_p.D249_splice|ANO6_uc010sld.1_Splice_Site_p.D249_splice|ANO6_uc010sle.1_Splice_Site_p.D249_splice|ANO6_uc010slg.2_Splice_Site_p.D231_splice	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	249					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGCTTTCCCACTCCATGATGTAAGTTAAAAGGCAAAAATGA	0.401												
KRTAP4-5	85289	broad.mit.edu	37	17	39305776	39305777	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs58117746		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:39305775_39305776T>TGGCAGCAGCTGGGGC	uc002hwb.3	-	0	279_280	c.244_245A>GCCCCAGCTGCTGCCA	c.(244-246)cag>GCCCCAGCTGCTGCCAg	p.82_82Q>APAAA		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	87	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		Missing (in allele KAP4.5-v1).			keratin filament		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
ABCA10	10349	broad.mit.edu	37	17	67151161	67151162	+	Splice_Site	INS	-	-	T			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:67151160_67151161C>CT	uc010dfa.1	-	31	4573	c.3694_splice	c.e31+1	p.G1232_splice	ABCA10_uc010wqs.1_Splice_Site_p.G224_splice|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1232	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTCAAACCTTTTTTAACAC	0.282