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
PRDM16	63976	broad.mit.edu	37	1	3334448	3334448	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:3334448G>A	uc001akf.2	+	11	2828	c.2748G>A	c.(2746-2748)GCG>GCA	p.A916A	PRDM16_uc001akc.2_Silent_p.A915A|PRDM16_uc001akd.2_Silent_p.A915A|PRDM16_uc001ake.2_Silent_p.A916A|PRDM16_uc009vlh.2_Silent_p.A616A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	916	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATGAAGGCGGACTCGGGCA	0.602			T	EVI1	MDS|AML							
PIK3CD	5293	broad.mit.edu	37	1	9784136	9784136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:9784136C>T	uc001aqb.3	+	21	2912	c.2704C>T	c.(2704-2706)CGA>TGA	p.R902*	PIK3CD_uc010oaf.1_Nonsense_Mutation_p.R901*|PIK3CD_uc001aqe.3_Nonsense_Mutation_p.R926*	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	902	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CATCATGATCCGAGAGAGTGG	0.612												
VPS13D	55187	broad.mit.edu	37	1	12429548	12429548	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:12429548C>T	uc001atv.2	+	54	10740	c.10599C>T	c.(10597-10599)GGC>GGT	p.G3533G	VPS13D_uc001atw.2_Silent_p.G3508G|VPS13D_uc001atx.2_Silent_p.G2720G|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3532					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCAGCATGGCGTAGCTGAAC	0.498												
PEF1	553115	broad.mit.edu	37	1	32098238	32098238	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:32098238G>A	uc001bth.1	-	4	495	c.483C>T	c.(481-483)AAC>AAT	p.N161N	PEF1_uc001bte.1_5'UTR|PEF1_uc001btf.1_5'UTR|PEF1_uc001btg.1_Silent_p.N91N	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	161	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGTCAAACATGTCTGAAGGTG	0.557												
FAM183A	440585	broad.mit.edu	37	1	43621984	43621984	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:43621984G>T	uc009vwo.2	+	4	434	c.405G>T	c.(403-405)TAG>TAT	p.*135Y		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	hCG23177	135										ovary(3)	3						ACCACAAGTAGCATCCCAGCG	0.463												
ST7L	54879	broad.mit.edu	37	1	113126609	113126609	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:113126609G>A	uc001ecd.2	-	7	1146	c.841C>T	c.(841-843)CAT>TAT	p.H281Y	ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Missense_Mutation_p.H98Y|ST7L_uc010owg.1_Missense_Mutation_p.H216Y|ST7L_uc010owh.1_Intron|ST7L_uc001ece.2_Missense_Mutation_p.H281Y|ST7L_uc001ecf.2_Missense_Mutation_p.H264Y|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.H216Y|ST7L_uc001ech.2_Missense_Mutation_p.H264Y|ST7L_uc001eci.2_Missense_Mutation_p.H281Y|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.H264Y	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	281					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAGCTTCATGCTGAGGACTT	0.373												
HAPLN2	60484	broad.mit.edu	37	1	156594403	156594403	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr1:156594403G>T	uc001fpn.1	+	6	974	c.567G>T	c.(565-567)GAG>GAT	p.E189D		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	189	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTGGACCGAGGGTCTGGACT	0.726												
MRGPRX2	117194	broad.mit.edu	37	11	19077306	19077306	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:19077306C>A	uc001mph.2	-	2	732	c.644G>T	c.(643-645)GGT>GTT	p.G215V		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	215	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CAGTGGCAGACCCCTGGAGCC	0.532												
DAGLA	747	broad.mit.edu	37	11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:61504739G>A	uc001nsa.2	+	14	1568	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	486	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647												
SIPA1	6494	broad.mit.edu	37	11	65413832	65413832	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:65413832G>A	uc001ofb.2	+	7	1571	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	SIPA1_uc010rom.1_Silent_p.T468T|SIPA1_uc001ofd.2_Silent_p.T468T	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	468	Rap-GAP.			T -> R (in Ref. 2; AAC32559).	cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CACCCTGCACGCCACACACCA	0.672												
CXCR5	643	broad.mit.edu	37	11	118765361	118765361	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr11:118765361A>T	uc001pue.3	+	2	1218	c.1108A>T	c.(1108-1110)ACC>TCC	p.T370S	CXCR5_uc001puf.2_Missense_Mutation_p.T325S	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	370	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CACCTCTCTCACCACGTTCTA	0.592												
KLRG1	10219	broad.mit.edu	37	12	9162024	9162024	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:9162024T>A	uc001qvh.2	+	5	472	c.461T>A	c.(460-462)ATT>AAT	p.I154N	KLRG1_uc001qvg.2_Missense_Mutation_p.I154N	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	154	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						TCTTACAGGATTTCTTCTAAT	0.418												
HELB	92797	broad.mit.edu	37	12	66698721	66698721	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:66698721A>T	uc001sti.2	+	2	426	c.398A>T	c.(397-399)GAG>GTG	p.E133V	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	133					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTCTTAAAGAGTGTGAGGTC	0.343												
C12orf12	196477	broad.mit.edu	37	12	91347821	91347821	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:91347821G>A	uc001tbj.2	-	1	1133	c.699C>T	c.(697-699)AAC>AAT	p.N233N		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	233										central_nervous_system(1)|pancreas(1)	2						GGGGCGCGTCGTTTCCGGAGG	0.637												
ULK1	8408	broad.mit.edu	37	12	132403762	132403762	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr12:132403762G>C	uc001uje.2	+	24	2785	c.2517G>C	c.(2515-2517)GAG>GAC	p.E839D		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	839					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCAGCAAGAGCACACGGAGA	0.677												
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr13:48941648C>T	uc001vcb.2	+	10	1124	c.958C>T	c.(958-960)CGA>TGA	p.R320*	RB1_uc010act.1_Nonsense_Mutation_p.R21*	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.R320*(9)|p.?(6)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313	R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)	6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
OR4N2	390429	broad.mit.edu	37	14	20295880	20295880	+	Silent	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20295880A>T	uc010tkv.1	+	1	273	c.273A>T	c.(271-273)ATA>ATT	p.I91I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGAAGAAGATAATCTCCTACA	0.512												
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20344654C>A	uc001vwh.1	+	1	228	c.228C>A	c.(226-228)TTC>TTA	p.F76L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418												
OR4K1	79544	broad.mit.edu	37	14	20404344	20404344	+	Silent	SNP	G	G	A	rs150151690	by1000genomes	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:20404344G>A	uc001vwj.1	+	1	519	c.519G>A	c.(517-519)GAG>GAA	p.E173E		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCCCAATGAGGTGGATAGCT	0.458												
PSMA3	5684	broad.mit.edu	37	14	58724709	58724709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:58724709G>A	uc001xdj.1	+	5	443	c.397G>A	c.(397-399)GGC>AGC	p.G133S	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.G133S	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0						TAGACCTTTTGGCTGCAGGTA	0.368												
CYP11A1	1583	broad.mit.edu	37	15	74637521	74637521	+	Silent	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr15:74637521G>T	uc002axt.2	-	3	644	c.489C>A	c.(487-489)GCC>GCA	p.A163A	CYP11A1_uc002axs.2_Silent_p.A5A|CYP11A1_uc010bjm.1_Silent_p.A5A|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.A163A|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Silent_p.A163A	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	163					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGTTCTTGGTGGCCTCTGGAG	0.587												
KIAA0664	23277	broad.mit.edu	37	17	2597254	2597254	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:2597254C>A	uc002fuy.1	-	19	3140	c.3054G>T	c.(3052-3054)GAG>GAT	p.E1018D	KIAA0664_uc002fux.1_Missense_Mutation_p.E951D|KIAA0664_uc010ckc.1_Missense_Mutation_p.E4D	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1018							binding			breast(2)	2						AGGCGCAGGTCTCCACGTGCA	0.632												
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:7577082C>T	uc002gim.2	-	8	1050	c.856G>A	c.(856-858)GAA>AAA	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(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)		AGATTCTCTTCCTCTGTGCGC	0.557		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)		
DNAH9	1770	broad.mit.edu	37	17	11648301	11648301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:11648301C>T	uc002gne.2	+	31	6367	c.6299C>T	c.(6298-6300)GCC>GTC	p.A2100V	DNAH9_uc010coo.2_Missense_Mutation_p.A1394V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2100					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTCCCGCCCTGGATGTC	0.557												
RNF112	7732	broad.mit.edu	37	17	19314763	19314763	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:19314763G>A	uc010vyw.1	+	1	241	c.42G>A	c.(40-42)CGG>CGA	p.R14R	RNF112_uc010vyu.1_Silent_p.R14R|RNF112_uc010vyv.1_Silent_p.R14R|RNF112_uc010vyx.1_5'Flank	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	14							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						TTTGTCATCGGCTTGGCAAAC	0.642												
SLC6A4	6532	broad.mit.edu	37	17	28538390	28538390	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:28538390C>T	uc002hey.3	-	10	1801	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	419	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGAAAGTGGACGCTGGCATGT	0.532												
BAHCC1	57597	broad.mit.edu	37	17	79409752	79409752	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr17:79409752G>A	uc002kaf.2	+	3	1377	c.1377G>A	c.(1375-1377)GCG>GCA	p.A459A	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	459							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCTTTGAGGCGGCCCTCAACC	0.672												
LAMA1	284217	broad.mit.edu	37	18	7026103	7026103	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:7026103C>T	uc002knm.2	-	17	2371	c.2277G>A	c.(2275-2277)GCG>GCA	p.A759A	LAMA1_uc010wzj.1_Silent_p.A235A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	759	Laminin EGF-like 6.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCGCACACGCCTAGGAAC	0.532												
SETBP1	26040	broad.mit.edu	37	18	42532899	42532899	+	Silent	SNP	G	G	A	rs139363762	by1000genomes	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:42532899G>A	uc010dni.2	+	4	3890	c.3594G>A	c.(3592-3594)CCG>CCA	p.P1198P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1198						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAGCTCCCGCTGGTGAGTG	0.542									Schinzel-Giedion_syndrome			
RAB27B	5874	broad.mit.edu	37	18	52555243	52555243	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr18:52555243G>T	uc002lfr.2	+	5	472	c.361G>T	c.(361-363)GCT>TCT	p.A121S		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	121					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GCAAGCAAATGCTTATTGTGA	0.413												
VAV1	7409	broad.mit.edu	37	19	6828175	6828175	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:6828175T>A	uc002mfu.1	+	10	1113	c.1016T>A	c.(1015-1017)CTT>CAT	p.L339H	VAV1_uc010xjh.1_Missense_Mutation_p.L307H|VAV1_uc010dva.1_Missense_Mutation_p.L339H|VAV1_uc002mfv.1_Missense_Mutation_p.L284H	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L339L(1)		lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TATCACCTCCTTCTCCAGGTG	0.572												
PNPLA6	10908	broad.mit.edu	37	19	7623881	7623881	+	Silent	SNP	A	A	G			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:7623881A>G	uc010xjq.1	+	30	3768	c.3573A>G	c.(3571-3573)GTA>GTG	p.V1191V	PNPLA6_uc002mgq.1_Silent_p.V1143V|PNPLA6_uc010xjp.1_Silent_p.V1116V|PNPLA6_uc002mgr.1_Silent_p.V1143V|PNPLA6_uc002mgs.2_Silent_p.V1181V|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1182	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CTGACAAGGTAAAGGTTCCAG	0.612												
ZNF253	56242	broad.mit.edu	37	19	20003002	20003002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:20003002G>T	uc002noj.2	+	4	1038	c.946G>T	c.(946-948)GAA>TAA	p.E316*	ZNF253_uc002nok.2_Nonsense_Mutation_p.E240*|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	316	C2H2-type 6.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAACTGTGAAGAATGTGGCAA	0.403												
ZNF98	148198	broad.mit.edu	37	19	22574985	22574985	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:22574985T>A	uc002nqt.2	-	4	1174	c.1052A>T	c.(1051-1053)AAA>ATA	p.K351I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	351	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCTTCACATTTGTAGAATTT	0.403												
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:36278842A>C	uc002obs.1	+	21	2977	c.2892A>C	c.(2890-2892)TCA>TCC	p.S964S	ARHGAP33_uc002obt.1_Silent_p.S961S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.S713S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1125					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TTGGCCAATCACCCCCACTCC	0.667												
KLK1	3816	broad.mit.edu	37	19	51322541	51322541	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr19:51322541A>T	uc002ptk.1	-	5	737	c.698T>A	c.(697-699)GTC>GAC	p.V233D	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	233	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCACAAGGGACGTAGCCCCA	0.582												
AFF3	3899	broad.mit.edu	37	2	100623465	100623465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:100623465G>A	uc002tag.2	-	6	738	c.502C>T	c.(502-504)CTC>TTC	p.L168F	AFF3_uc002taf.2_Missense_Mutation_p.L193F|AFF3_uc010fiq.1_Missense_Mutation_p.L168F|AFF3_uc010yvr.1_Missense_Mutation_p.L322F|AFF3_uc002tah.1_Missense_Mutation_p.L193F|AFF3_uc010fir.1_Missense_Mutation_p.L245F|AFF3_uc002tai.2_Missense_Mutation_p.L90F	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	168					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AAGGTCCTGAGAGAGCCCTGT	0.522												
CNTNAP5	129684	broad.mit.edu	37	2	125671839	125671839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:125671839G>A	uc002tno.2	+	24	4259	c.3895G>A	c.(3895-3897)GAG>AAG	p.E1299K	CNTNAP5_uc010flu.2_Missense_Mutation_p.E1300K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1299	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACAGTGAGCGAGTGTAAACG	0.413												
CACNB4	785	broad.mit.edu	37	2	152737347	152737347	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:152737347G>A	uc002tya.2	-	4	425	c.357C>T	c.(355-357)TCC>TCT	p.S119S	CACNB4_uc002txy.2_Silent_p.S85S|CACNB4_uc002txz.2_Silent_p.S101S|CACNB4_uc010fnz.2_Silent_p.S119S|CACNB4_uc002tyb.2_Silent_p.S85S	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	119	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TAGCATCAAAGGAGATAGCTG	0.478												
C2orf67	151050	broad.mit.edu	37	2	211018370	211018370	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr2:211018370A>T	uc002vds.2	-	2	1145	c.937T>A	c.(937-939)TTT>ATT	p.F313I	C2orf67_uc002vdt.2_Missense_Mutation_p.F313I|C2orf67_uc002vdw.2_Missense_Mutation_p.F313I|C2orf67_uc002vdy.1_Missense_Mutation_p.F313I|C2orf67_uc002vdv.2_Missense_Mutation_p.F313I|C2orf67_uc002vdx.1_Missense_Mutation_p.F313I	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	313										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CACCGTGCAAAGCCATTTTTT	0.403												
RIMS4	140730	broad.mit.edu	37	20	43386771	43386771	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:43386771C>T	uc002xms.2	-	3	291	c.291G>A	c.(289-291)CTG>CTA	p.L97L	RIMS4_uc010ggu.2_Silent_p.L98L	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	97					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CCATGCTTCCCAGGAAGTCAC	0.572												
SLC17A9	63910	broad.mit.edu	37	20	61594078	61594078	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:61594078C>T	uc002yea.3	+	5	784	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y	SLC17A9_uc002ydz.3_Silent_p.Y194Y|SLC17A9_uc011aap.1_Silent_p.Y220Y	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	200	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						GGGTGTGGTACGTGTACAGGT	0.657												
MICAL3	57553	broad.mit.edu	37	22	18389499	18389499	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr22:18389499C>T	uc002zng.3	-	2	433	c.80G>A	c.(79-81)GGA>GAA	p.G27E	MICAL3_uc011agl.1_Missense_Mutation_p.G27E|MICAL3_uc002znh.2_Missense_Mutation_p.G27E|MICAL3_uc002znk.1_Missense_Mutation_p.G27E|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.G27E|MICAL3_uc011agm.1_Missense_Mutation_p.G27E	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	27						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTGAGGGTTCCCTTGCAGGT	0.537												
TPST2	8459	broad.mit.edu	37	22	26932452	26932452	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr22:26932452C>T	uc003acv.2	-	3	1011	c.843G>A	c.(841-843)AAG>AAA	p.K281K	TPST2_uc003acw.2_Silent_p.K281K|TPST2_uc003acx.2_Silent_p.K281K	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	281	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						ACCGCTCGATCCTGGGGAGAG	0.537												
SCN10A	6336	broad.mit.edu	37	3	38768533	38768533	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:38768533A>C	uc003ciq.2	-	16	2651	c.2651T>G	c.(2650-2652)CTG>CGG	p.L884R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	884	II.|Helical; Name=S6 of repeat II; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCGATGAACAGGTTAAGCAC	0.552												
IL17RB	55540	broad.mit.edu	37	3	53880617	53880617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:53880617T>C	uc003dha.2	+	1	41	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CHDH_uc003dgz.2_5'Flank	NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	1					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GGCCCGGCGATGTCGCTCGTG	0.627												
SPSB4	92369	broad.mit.edu	37	3	140785640	140785640	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr3:140785640C>A	uc003ett.2	+	2	948	c.694C>A	c.(694-696)CCC>ACC	p.P232T	SPSB4_uc010hum.2_Missense_Mutation_p.H232N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	232	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						CGGCCTTGACCGTAAGTTGTG	0.632												
ANKRD50	57182	broad.mit.edu	37	4	125593582	125593582	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr4:125593582G>T	uc003ifg.3	-	3	1116	c.850C>A	c.(850-852)CTC>ATC	p.L284I	ANKRD50_uc011cgo.1_Missense_Mutation_p.L105I|ANKRD50_uc010inw.2_Missense_Mutation_p.L284I	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	284										central_nervous_system(1)	1						TCTTTTGTGAGGTGTTGTCGC	0.363												
CDH12	1010	broad.mit.edu	37	5	21755828	21755828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:21755828G>A	uc010iuc.2	-	11	2215	c.1757C>T	c.(1756-1758)ACT>ATT	p.T586I	CDH12_uc011cno.1_Missense_Mutation_p.T546I|CDH12_uc003jgk.2_Missense_Mutation_p.T586I|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	586	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GACTCGAATAGTCATTGTGTT	0.468										HNSCC(59;0.17)		
NPR3	4883	broad.mit.edu	37	5	32712408	32712408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:32712408C>T	uc003jhv.2	+	1	744	c.526C>T	c.(526-528)CGC>TGC	p.R176C	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R176C	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	176	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GCACCTCACGCGCGTGGCGCC	0.672												
DAB2	1601	broad.mit.edu	37	5	39377141	39377141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:39377141G>A	uc003jlx.2	-	12	2279	c.1748C>T	c.(1747-1749)GCT>GTT	p.A583V	DAB2_uc003jlw.2_Missense_Mutation_p.A562V	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	583					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTGACCAAGCATTGGGTGC	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HCN1	348980	broad.mit.edu	37	5	45695964	45695964	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:45695964C>T	uc003jok.2	-	1	257	c.232G>A	c.(232-234)GCG>ACG	p.A78T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	78	Cytoplasmic (Potential).|Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AAGCCCCCCGCCGGCTCCTcg	0.443												
MAP1B	4131	broad.mit.edu	37	5	71489953	71489953	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:71489953C>T	uc003kbw.3	+	5	1012	c.771C>T	c.(769-771)CTC>CTT	p.L257L	MAP1B_uc010iyw.1_Silent_p.L274L|MAP1B_uc010iyx.1_Silent_p.L131L|MAP1B_uc010iyy.1_Silent_p.L131L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	257						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCTGAAGCTCTCCAAGCCCT	0.473												
TLX3	30012	broad.mit.edu	37	5	170736747	170736747	+	Silent	SNP	C	C	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr5:170736747C>A	uc003mbf.2	+	1	460	c.378C>A	c.(376-378)CCC>CCA	p.P126P	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAATTTCCCCTGGATGGAGA	0.706			T	BCL11B	T-ALL							
FAM50B	26240	broad.mit.edu	37	6	3850236	3850236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:3850236C>T	uc003mvu.2	+	2	303	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	64						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AAGTCCAGCACGGTGGGCCTG	0.652												
HIST1H4F	8361	broad.mit.edu	37	6	26240797	26240797	+	Silent	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:26240797G>T	uc003nhe.1	+	1	144	c.144G>T	c.(142-144)TCG>TCT	p.S48S		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AACGCATTTCGGGCCTCATTT	0.597												
SCAND3	114821	broad.mit.edu	37	6	28539899	28539899	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:28539899T>C	uc003nlo.2	-	4	4385	c.3767A>G	c.(3766-3768)GAC>GGC	p.D1256G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1256					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ctcaggatagtcatttttagc	0												
SKIV2L	6499	broad.mit.edu	37	6	31933769	31933769	+	Silent	SNP	A	A	G			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:31933769A>G	uc003nyn.1	+	18	2570	c.2181A>G	c.(2179-2181)GCA>GCG	p.A727A	SKIV2L_uc011dou.1_Silent_p.A569A|SKIV2L_uc011dov.1_Silent_p.A534A	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	727	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CCGAGATGGCAGACCTGCACC	0.627												
HMGCLL1	54511	broad.mit.edu	37	6	55381357	55381357	+	Silent	SNP	T	T	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:55381357T>C	uc003pcn.2	-	5	591	c.432A>G	c.(430-432)CCA>CCG	p.P144P	HMGCLL1_uc003pco.2_Silent_p.P114P|HMGCLL1_uc010jzx.2_Silent_p.P15P|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	144							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCGAACTCCTGGATATTGAT	0.353												
RIMS1	22999	broad.mit.edu	37	6	72984124	72984124	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:72984124G>A	uc003pga.2	+	23	3548	c.3471G>A	c.(3469-3471)CCG>CCA	p.P1157P	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Silent_p.P310P|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1157					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P1157P(1)		ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGCGTCTCCGGAGAATGACA	0.488												
GJA10	84694	broad.mit.edu	37	6	90604457	90604457	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:90604457G>T	uc011eaa.1	+	1	270	c.270G>T	c.(268-270)TTG>TTT	p.L90F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	90	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCCTTCTTTGGTCTATATGG	0.448												
IKZF1	10320	broad.mit.edu	37	7	50450356	50450356	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:50450356C>T	uc003tow.3	+	6	708	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	IKZF1_uc003tox.3_Silent_p.Y180Y|IKZF1_uc003toy.3_Silent_p.Y180Y|IKZF1_uc011kck.1_Silent_p.Y93Y|IKZF1_uc003toz.3_Silent_p.Y150Y|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	180	C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCTGCAACTACGCCTGCCGCC	0.647			D		ALL							
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:126173853G>A	uc003vlr.2	-	8	1894	c.1583C>T	c.(1582-1584)ACG>ATG	p.T528M	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T528M|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	528	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)		
ATG9B	285973	broad.mit.edu	37	7	150714339	150714339	+	Silent	SNP	A	A	G			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:150714339A>G	uc011kvc.1	-	9	2149	c.2073T>C	c.(2071-2073)ACT>ACC	p.T691T	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	691	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGAGGCCTCAGTCTGTCCCG	0.602												
DPP6	1804	broad.mit.edu	37	7	154237681	154237681	+	Silent	SNP	T	T	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr7:154237681T>A	uc003wlk.2	+	4	651	c.522T>A	c.(520-522)ACT>ACA	p.T174T	DPP6_uc003wli.2_Silent_p.T110T|DPP6_uc003wlj.2_Silent_p.T174T|DPP6_uc003wlm.2_Silent_p.T112T|DPP6_uc011kvq.1_Silent_p.T112T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	174	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAACAAATACTTCTACTGTCT	0.333												
PRKDC	5591	broad.mit.edu	37	8	48772214	48772214	+	Silent	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr8:48772214G>A	uc003xqi.2	-	47	6222	c.6165C>T	c.(6163-6165)AGC>AGT	p.S2055S	PRKDC_uc003xqj.2_Silent_p.S2055S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2055					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCTTGGGAGCTGTATGAAT	0.443								NHEJ				
TNC	3371	broad.mit.edu	37	9	117845084	117845084	+	Silent	SNP	A	A	G			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:117845084A>G	uc004bjj.3	-	5	2496	c.2134T>C	c.(2134-2136)TTA>CTA	p.L712L	TNC_uc010mvf.2_Silent_p.L712L	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	712					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GGTGCAGGTAAGTCTGTAAGT	0.468												
FAM73B	84895	broad.mit.edu	37	9	131830597	131830597	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:131830597A>T	uc004bxa.2	+	13	1576	c.1390A>T	c.(1390-1392)AGC>TGC	p.S464C	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.S464C|FAM73B_uc004bxb.2_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	464						integral to membrane				skin(1)	1						GCTGTCAGACAGCTTCAAGGA	0.632												
LAMC3	10319	broad.mit.edu	37	9	133914363	133914363	+	Silent	SNP	C	C	T			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:133914363C>T	uc004caa.1	+	5	1187	c.1089C>T	c.(1087-1089)CAC>CAT	p.H363H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	363	Laminin EGF-like 2.				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)		CTGGGCCACACTGTGAGCGCT	0.642												
BAT2L1	84726	broad.mit.edu	37	9	134322501	134322501	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr9:134322501G>C	uc004can.3	+	7	940	c.885G>C	c.(883-885)CAG>CAC	p.Q295H	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.Q295H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	295							protein binding				0						CAGAAAACCAGGGTACAGTGG	0.458												
CPXCR1	53336	broad.mit.edu	37	X	88009104	88009104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chrX:88009104G>A	uc004efd.3	+	3	948	c.689G>A	c.(688-690)CGT>CAT	p.R230H	CPXCR1_uc004efc.3_Missense_Mutation_p.R230H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	230						intracellular	zinc ion binding			ovary(3)	3						TGTAGATTCCGTGCTATTGTG	0.383												
IRS4	8471	broad.mit.edu	37	X	107979402	107979402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chrX:107979402G>A	uc004eoc.2	-	1	206	c.173C>T	c.(172-174)ACG>ATG	p.T58M		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	58						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCAGTGGCCGTGGAGAGCCA	0.647												
PRKD1	5587	broad.mit.edu	37	14	30103740	30103740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr14:30103740delT	uc001wqh.2	-	8	1379	c.1198delA	c.(1198-1200)ACAfs	p.T400fs		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	400					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTTGCTTGTTGATGGACTT	0.388												
C6orf97	80129	broad.mit.edu	37	6	151936585	151936585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:151936585delC	uc003qol.2	+	10	1807	c.1718delC	c.(1717-1719)ACTfs	p.T573fs		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	573	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TAGATTAAAACTTTGGAACAG	0.353												
STK19	8859	broad.mit.edu	37	6	31939830	31939831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr6:31939829_31939830C>CA	uc003nyv.3	+	0	184_185	c.56_57C>CA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634												
MYO16	23026	broad.mit.edu	37	13	109518544	109518544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr13:109518543_109518543CT>C	uc010agk.2	+	11	2000	c.1378_1378CT>C	c.(1378-1380)cttfs	p.L460fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L438fs|MYO16_uc001vqu.1_Frame_Shift_Del_p.L238fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	438	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGAGACATTCTTTTGCTTGT	0.294												
KCNQ2	3785	broad.mit.edu	37	20	62046425	62046441	+	Frame_Shift_Del	DEL	GGCAGCCACGCCTCGGG	GGCAGCCACGCCTCGGG	-	rs118192226	byFrequency	TCGA-BR-A4CR-01A-11D-A24D-08	TCGA-BR-A4CR-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e6ade-14ed-45e9-bc73-dde1f69349ee	9ee683c7-c2ae-4b00-a340-e6d0daf7384e	g.chr20:62046424_62046440TGGCAGCCACGCCTCGGG>T	uc002yey.1	-	12	1518_1534	c.1341_1357CCCGAGGCGTGGCTGCCA>A	c.(1339-1359)ccccgaggcgtggctgccaagfs	p.P447fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P417fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P429fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P419fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	447					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGA	0.618