Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CYP26C1	340665	broad.mit.edu	37	10	94828244	94828244	+	Silent	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr10:94828244C>A	uc010qns.2	+	5	1359	c.1359C>A	c.(1357-1359)ggC>ggA	p.G453G	CYP26C1_uc009xud.3_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	453					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				TCCCGTTCGGCGGCGGTGCGC	0.697000													4	42					0.150653	0.152102	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:39274416C>T	uc002hvz.3	-	0	191	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)|p.R51K(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													4	61					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000													4	15					2.56e-06	2.688e-06	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33534943	33534943	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr5:33534943C>A	uc003jia.1	-	22	4764	c.4601G>T	c.(4600-4602)aGt>aTt	p.S1534I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1449I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1534					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCACCGGCACTTTTCTTGCA	0.433000										HNSCC(64;0.19)			37	38					1.08169e-08	1.14725e-08	1	1	0
GBA	2629	broad.mit.edu	37	1	155186742	155186742	+	Missense_Mutation	SNP	G	G	A	rs1057941	by1000genomes	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:155186742G>A	uc001fjd.3	-	4	562	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	GBA_uc001fjf.4_Missense_Mutation_p.R101W|GBA_uc001fje.4_Missense_Mutation_p.R62W|GBA_uc021pau.1_Missense_Mutation_p.R62W			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	223					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.A139S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GTCTTGAGCCGAGTGGGTGAT	0.577000									Gaucher disease type I				5	88					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222705394	222705394	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:222705394C>T	uc001hnh.1	-	5	1695	c.1637G>A	c.(1636-1638)tGc>tAc	p.C546Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	546					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTGCCCAGGCAAAGATCCTG	0.428000													30	30					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155186729	155186729	+	Missense_Mutation	SNP	T	T	C	rs28445596	by1000genomes	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:155186729T>C	uc001fjd.3	-	4	575	c.431A>G	c.(430-432)aAg>aGg	p.K144R	GBA_uc001fjf.4_Missense_Mutation_p.K105R|GBA_uc001fje.4_Missense_Mutation_p.K66R|GBA_uc021pau.1_Missense_Mutation_p.K66R			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	227					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CCCCGCTCCCTTGGTCTTGAG	0.582000									Gaucher disease type I				4	88					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6992669	6992669	+	Silent	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr18:6992669G>A	uc002knm.3	-	35	5153	c.5059C>T	c.(5059-5061)Cta>Tta	p.L1687L	LAMA1_uc010wzj.2_Silent_p.L1163L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1687	Domain II and I.				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			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAATTGGGTAGTAGGAAATCT	0.358000													57	58					0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784625	226784625	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:226784625G>A	uc021pjx.1	+	1	430	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	C1orf95_uc021pjw.1_Missense_Mutation_p.V109I	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	Homo sapiens chromosome 1 open reading frame 95 (C1orf95), mRNA.	109						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CACTGCCATCGTCATGGTGGG	0.612000													32	46					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251132	83251132	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr12:83251132G>T	uc001szt.3	+	1	859	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	TMTC2_uc001szr.1_Missense_Mutation_p.G143W|TMTC2_uc001szs.1_Missense_Mutation_p.G143W|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	143						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGCCGATGTCGGGGCCAGTCT	0.547000													23	31					1.26612e-14	1.44503e-14	1	1	0
RFX3	5991	broad.mit.edu	37	9	3301560	3301560	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr9:3301560G>A	uc003zhr.3	-	5	847	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	RFX3_uc010mhd.3_Missense_Mutation_p.L179F|RFX3_uc003zhs.1_Missense_Mutation_p.L179F|RFX3_uc003zht.1_Missense_Mutation_p.L179F|RFX3_uc010mhe.1_Intron	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	179					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.S178C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTGTTGAGAAGAGAGCTTCTG	0.398000													38	35					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15971431	15971431	+	Silent	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:15971431T>G	uc002gpo.3	-	31	4787	c.4518A>C	c.(4516-4518)acA>acC	p.T1506T	NCOR1_uc002gpn.3_Silent_p.T1522T|NCOR1_uc002gpm.3_Silent_p.T27T|NCOR1_uc010vwb.2_Silent_p.T90T|NCOR1_uc010coy.3_Silent_p.T414T|NCOR1_uc010vwc.2_Silent_p.T317T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1506	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAGAAGAAATTGTAACTGGAA	0.403000													30	75					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156294858	156294858	+	Silent	SNP	A	A	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:156294858A>G	uc001fol.2	-	5	558	c.327T>C	c.(325-327)gcT>gcC	p.A109A	CCT3_uc010phj.2_Silent_p.A63A|CCT3_uc010phk.2_Silent_p.A63A|CCT3_uc001fon.2_Silent_p.A71A|CCT3_uc010phl.2_Silent_p.A63A	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	109					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGAAGTGCTCAGCTACAGACA	0.413000													15	18					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72142801	72142801	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:72142801C>T	uc002fcb.3	+	23	3713	c.3358C>T	c.(3358-3360)Cac>Tac	p.H1120Y	DHX38_uc010vmp.2_Missense_Mutation_p.H432Y	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1120					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATAGTGTATCACGAGTTGGT	0.542000													19	31					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335911	42335911	+	Silent	SNP	T	T	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:42335911T>A	uc002igf.4	-	9	1106	c.957A>T	c.(955-957)ctA>ctT	p.L319L	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	319					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGGCAGCACTAGGCTGCAGT	0.632000													45	106					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85637283	85637283	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr9:85637283T>G	uc004amo.1	-	2	898	c.637A>C	c.(637-639)Att>Ctt	p.I213L		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	213					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GCAGCCTGAATCCTCTGATCC	0.468000													24	35					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157177612	157177612	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:157177612C>T	uc003wnk.3	+	6	685	c.530C>T	c.(529-531)tCc>tTc	p.S177F	DNAJB6_uc003wnj.3_Missense_Mutation_p.S177F|DNAJB6_uc003wnl.3_Missense_Mutation_p.S164F|DNAJB6_uc011kvy.2_Missense_Mutation_p.S128F|DNAJB6_uc011kvz.2_Intron|DNAJB6_uc010lqt.3_Missense_Mutation_p.S177F	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	177	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCATTCTCTTCCACGTCATTT	0.393000													35	51					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128147735	128147735	+	Silent	SNP	G	G	A	rs146178248	byFrequency	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr10:128147735G>A	uc010qum.2	-	6	2092	c.2062C>T	c.(2062-2064)Ctg>Ttg	p.L688L	C10orf90_uc001ljp.3_Silent_p.L447L|C10orf90_uc001ljq.3_Silent_p.L591L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	591										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGCTTCTTCAGCCGTTCTTGT	0.498000													3	47					0	0	1	0	0
HOPX	84525	broad.mit.edu	37	4	57516896	57516896	+	Missense_Mutation	SNP	G	G	A	rs4371677	by1000genomes	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr4:57516896G>A	uc003hcc.2	-	3	816	c.281C>T	c.(280-282)cCg>cTg	p.P94L	HOPX_uc003hca.2_Intron|HOPX_uc003hcb.2_Intron|HOPX_uc003hcd.2_Non-coding_Transcript|HOPX_uc003hce.2_Intron|HOPX_uc011cad.1_Intron|HOPX_uc003hbz.2_Intron	NM_001145460	NP_001138932	Q9BPY8	HOP_HUMAN	Homo sapiens HOP homeobox (HOPX), transcript variant 5, mRNA.	0					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P94L(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AGCCAAGCACGGCAGACTATC	0.458000													4	91					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90392973	90392973	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:90392973T>G	uc003pnn.1	-	72	12096	c.11980A>C	c.(11980-11982)Aag>Cag	p.K3994Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3994					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTTCTTCCTTGTCACTCTCC	0.493000													42	54					0	0	1	0	0
C1orf130	400746	broad.mit.edu	37	1	24921934	24921934	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:24921934A>T	uc001bjk.2	+	1	114	c.13A>T	c.(13-15)Acc>Tcc	p.T5S		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	5						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		GACCACAGCCACCCCTCTGGG	0.423000													34	35					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134095054	134095054	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr11:134095054A>T	uc001qhe.3	+	0	494	c.38A>T	c.(37-39)gAa>gTa	p.E13V	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	13					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GTGGAGGTGGAAATCCTTCTG	0.642000													42	35					0	0	1	0	0
JA040725	0	broad.mit.edu	37	MT	15887	15887	+	Splice_Site	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chrM:15887T>C	uc022bqs.1	-	1		c.1_splice	c.e1-1		JA040723_uc022bqt.1_5'Flank|DQ590013_uc022bqv.1_5'Flank|cytochrome_b_uc022bqw.1_Splice_Site|AF079515_uc004coz.1_5'Flank					Homo sapiens piRNA piR-34804, complete sequence.																		TCAAATGGGCCTGTCCTTGTA	0.368000													5	53					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39435920	39435920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr4:39435920G>T	uc003gua.3	+	1	1013	c.916G>T	c.(916-918)Gag>Tag	p.E306*	KLB_uc011byj.2_Nonsense_Mutation_p.E306*	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	306	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCATTGGATCGAGCCAAACCG	0.463000													60	90					4.66136e-34	5.43826e-34	1	1	0
EME2	197342	broad.mit.edu	37	16	1826070	1826070	+	Splice_Site	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:1826070C>T	uc002cmq.1	+	8	1165	c.1165_splice	c.e8-1	p.A389_splice	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Splice_Site_p.A324_splice	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	338					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TGCTCCTAGGCGCTGGAGGCC	0.726000								Direct reversal of damage;Homologous recombination					16	37					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305536	9305536	+	Silent	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:9305536C>T	uc001apt.3	+	1	816	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	181	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ATGACCACTTCTCAGCCCAGC	0.587000													32	52					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257703	9257703	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr18:9257703C>G	uc002knv.3	+	8	4702	c.4438C>G	c.(4438-4440)Cag>Gag	p.Q1480E	ANKRD12_uc002knw.3_Missense_Mutation_p.Q1457E|ANKRD12_uc002knx.3_Missense_Mutation_p.Q1457E|ANKRD12_uc010dkx.1_Missense_Mutation_p.Q1187E	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1480						nucleus		p.Q1480_D1481>HY(1)|p.Q1480H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTCTTGTGCTCAGGATCCGGC	0.418000													37	54					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613115	61613115	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:61613115A>G	uc002jay.3	+	5	1267	c.1187A>G	c.(1186-1188)tAt>tGt	p.Y396C	KCNH6_uc002jax.1_Missense_Mutation_p.Y396C|KCNH6_uc010wpl.2_Missense_Mutation_p.Y273C|KCNH6_uc010wpm.2_Missense_Mutation_p.Y396C|KCNH6_uc002jaz.1_Missense_Mutation_p.Y396C	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	396					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TACTCTGAGTATGGGGCGGCT	0.622000													50	38					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957940	111957940	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:111957940A>C	uc001eba.3	-	10	1239	c.1183T>G	c.(1183-1185)Ttt>Gtt	p.F395V	OVGP1_uc001eaz.3_Missense_Mutation_p.F357V|OVGP1_uc010owb.2_Missense_Mutation_p.F43V	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	395					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCCAAAATTGTGGTAAA	0.433000													34	53					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57006901	57006901	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr12:57006901T>A	uc001slq.1	-	4	1233	c.1039A>T	c.(1039-1041)Aat>Tat	p.N347Y	BAZ2A_uc001slp.1_Missense_Mutation_p.N345Y|BAZ2A_uc009zow.1_Missense_Mutation_p.N315Y	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	347					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCAGTAGCATTATTGAGGGAA	0.512000													51	58					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060788	38060788	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr14:38060788A>T	uc001wuf.3	-	1	1513	c.1201T>A	c.(1201-1203)Tcc>Acc	p.S401T	FOXA1_uc010tpz.2_Missense_Mutation_p.S368T	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	401					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTGTTGATGGAGAACGGGTGG	0.602000													50	42					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20490451	20490451	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:20490451C>G	uc003nda.2	+	6	1515	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	E2F3_uc021ymj.1_Missense_Mutation_p.N265K	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	396	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTATGGGAAACCTTTCTCCTC	0.443000													46	44					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695566	49695566	+	Silent	SNP	C	C	T	rs149034379	byFrequency	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:49695566C>T	uc003cxe.4	+	4	8691	c.8577C>T	c.(8575-8577)acC>acT	p.T2859T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2859					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCAGCCCCACCGCCGAAGAGT	0.647000													11	10					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85722839	85722839	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr4:85722839C>A	uc003hpd.3	-	16	3194	c.2786G>T	c.(2785-2787)cGa>cTa	p.R929L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	929						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAGGCTAATCGTTCAAACAT	0.493000													13	14					6.72482e-11	7.35528e-11	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107807453	107807453	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:107807453T>C	uc022aka.1	-	26	3485	c.3379A>G	c.(3379-3381)Atg>Gtg	p.M1127V	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1127	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTCCTGGCATTAGACCCTTT	0.433000													44	69					0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645901	50645901	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:50645901C>A	uc010hlq.3	-	2	482	c.195G>T	c.(193-195)gaG>gaT	p.E65D	CISH_uc003dax.3_Missense_Mutation_p.E48D	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	48					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGGGGTACCCTCTGCCACCT	0.642000													24	17					1.42536e-11	1.57539e-11	1	1	0
WNT10B	7480	broad.mit.edu	37	12	49362081	49362081	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr12:49362081G>T	uc001rss.3	-	3	803	c.359C>A	c.(358-360)tCc>tAc	p.S120Y	WNT10B_uc001rst.3_Missense_Mutation_p.S120Y	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	120					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CATGGAGAAGGAAAAAGCACT	0.572000													12	4					2.80697e-09	3.00747e-09	1	1	0
ECEL1	9427	broad.mit.edu	37	2	233344925	233344925	+	Missense_Mutation	SNP	G	G	A	rs147861587	byFrequency	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:233344925G>A	uc002vsv.2	-	17	2471	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W	ECEL1_uc010fya.1_Missense_Mutation_p.R754W|ECEL1_uc010fyb.1_Missense_Mutation_p.R463W	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	756					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGAAAGCCCGGCCAAACTCC	0.662000													3	40					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750247	142750247	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:142750247G>C	uc011ksv.2	+	0	810	c.810G>C	c.(808-810)aaG>aaC	p.K270N		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AAGTCAGGAAGGTCGTGGCCT	0.507000													31	33					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225362540	225362540	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:225362540C>G	uc010fwy.1	-	11	1708	c.1655G>C	c.(1654-1656)cGa>cCa	p.R552P	CUL3_uc010zls.1_Missense_Mutation_p.R480P|CUL3_uc002vny.2_Missense_Mutation_p.R546P	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	546					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTGAGCTGTCGACCACTGTG	0.353000													33	4					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76253203	76253203	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:76253203A>G	uc001dgy.1	+	1	96	c.25A>G	c.(25-27)Att>Gtt	p.I9V	RABGGTB_uc009wbt.1_Non-coding_Transcript|SNORD45A_uc009wbu.1_5'Flank|SNORD45B_uc009wbv.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	Homo sapiens Rab geranylgeranyltransferase, beta subunit (RABGGTB), mRNA.	9					protein modification process|visual perception		Rab geranylgeranyltransferase activity|metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GAAGGATGTTATTATCAAGTC	0.368000													63	77					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49833817	49833817	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr8:49833817C>G	uc003xqp.3	-	0	183	c.8G>C	c.(7-9)cGc>cCc	p.R3P		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	3					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGGAAGGAGCGCGGCATCTT	0.587000													21	15					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52380547	52380547	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:52380547C>A	uc011bef.2	+	10	1977	c.1716C>A	c.(1714-1716)agC>agA	p.S572R	DNAH1_uc003ddt.1_Missense_Mutation_p.S572R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	572	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGCAGCAGCCTGCGCGACA	0.572000													10	23					3.86212e-05	4.01507e-05	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21990696	21990696	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr19:21990696A>T	uc002nqj.3	-	3	2273	c.2143T>A	c.(2143-2145)Ttt>Att	p.F715I	ZNF43_uc002nql.3_Missense_Mutation_p.F709I|ZNF43_uc002nqm.3_Missense_Mutation_p.F709I|ZNF43_uc010ecv.3_Missense_Mutation_p.F709I|ZNF43_uc002nqk.3_Missense_Mutation_p.F645I	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GATCGGTTAAAAGCTTTGCCA	0.363000													18	15					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157177601	157177601	+	Silent	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:157177601T>C	uc003wnk.3	+	6	674	c.519T>C	c.(517-519)acT>acC	p.T173T	DNAJB6_uc003wnj.3_Silent_p.T173T|DNAJB6_uc003wnl.3_Silent_p.T160T|DNAJB6_uc011kvy.2_Silent_p.T124T|DNAJB6_uc011kvz.2_Intron|DNAJB6_uc010lqt.3_Silent_p.T173T	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	173	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGGGCCTCACTTCATTCTCTT	0.383000													30	48					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904194	21904194	+	RNA	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:21904194C>A	uc002gza.2	+	0		c.133C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		agcctcaggcctgccaggacg	0.677000													5	95					0.00116845	0.00119113	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901648	51901648	+	Silent	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:51901648C>T	uc002iua.2	+	0	1410	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	418	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAACACCTGTCAACGCTCACT	0.512000													34	128					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74700845	74700845	+	Silent	SNP	C	C	T	rs112511603		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr18:74700845C>T	uc010xfd.2	-	5	969	c.306G>A	c.(304-306)ccG>ccA	p.P102P	MBP_uc002lml.3_Silent_p.P128P|MBP_uc002lmn.3_Silent_p.P128P|MBP_uc002lmp.3_Silent_p.P102P|MBP_uc010xfe.1_Silent_p.P102P|MBP_uc010dqz.3_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA.	235					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTCCCTGCGACGGGGGTGGTG	0.527000													23	29					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48216644	48216644	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:48216644T>C	uc002iqh.4	-	7	2036	c.2033A>G	c.(2032-2034)cAg>cGg	p.Q678R		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	684	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TTTCAGCTGCTGGATCTCTGC	0.597000													12	32					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605127	140605127	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr5:140605127G>A	uc003ljb.3	+	0	2050	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	684					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A683A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCAGGCCGACTCCCTCAC	0.701000													3	49					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136916	80136916	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:80136916T>C	uc010ysh.2	+	5	1054	c.1049T>C	c.(1048-1050)aTg>aCg	p.M350T	CTNNA2_uc010yse.2_Missense_Mutation_p.M350T|CTNNA2_uc010ysf.2_Missense_Mutation_p.M350T|CTNNA2_uc010ysg.2_Missense_Mutation_p.M350T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	350					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			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCGAGTACATGAATAATGTA	0.547000													64	83					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44148401	44148401	+	Splice_Site	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:44148401T>G	uc003owt.1	+	16	1784	c.1746_splice	c.e16+2	p.E582_splice	CAPN11_uc011dvn.2_Splice_Site_p.E236_splice	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	582	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGGAGAGGTGAGCAGGCCA	0.607000													4	43					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876603	57876603	+	Missense_Mutation	SNP	G	G	T	rs457651		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr20:57876603G>T	uc002yap.3	+	1	560	c.191G>T	c.(190-192)gGg>gTg	p.G64V	EDN3_uc002yao.1_Missense_Mutation_p.G64V|EDN3_uc002yaq.3_Missense_Mutation_p.G64V|EDN3_uc002yar.3_Missense_Mutation_p.G64V|EDN3_uc002yas.3_Missense_Mutation_p.G64V	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	64					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CCTGGCGAGGGGACTGTGGCC	0.716000													29	36					1.30091e-30	1.50105e-30	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96665697	96665697	+	Missense_Mutation	SNP	G	G	A	rs148108950	byFrequency	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr13:96665697G>A	uc001vmt.3	-	4	694	c.524C>T	c.(523-525)cCt>cTt	p.P175L	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.P175L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	175					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTGTTTGTAGGAAATTTGTG	0.323000													5	117					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58386912	58386912	+	Silent	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:58386912T>C	uc002rzx.4	-	13	1198	c.1131A>G	c.(1129-1131)ggA>ggG	p.G377G	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzo.2_3'UTR|VRK2_uc002rzt.3_3'UTR|VRK2_uc002rzs.3_3'UTR|VRK2_uc002rzv.3_3'UTR|VRK2_uc010fcd.3_3'UTR|VRK2_uc002rzu.3_3'UTR|VRK2_uc010fcc.3_3'UTR|VRK2_uc002rzp.3_3'UTR|VRK2_uc010ypg.2_3'UTR|FANCL_uc002rzw.4_Silent_p.G372G|FANCL_uc010fce.3_Silent_p.G344G	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	372					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AGTGTTTCCTTCCAGACATTT	0.279000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	128					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138857091	138857091	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chrX:138857091C>G	uc004faz.3	-	18	2082	c.1983G>C	c.(1981-1983)gaG>gaC	p.E661D	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.E661D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	661					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTTCAATGGTCTCTGCAGCTT	0.463000													50	36					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215847	46215847	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr19:46215847T>C	uc002pcz.3	-	1	1030	c.907A>G	c.(907-909)Aag>Gag	p.K303E	FBXO46_uc002pcy.3_Missense_Mutation_p.K303E|FBXO46_uc021uvz.1_Missense_Mutation_p.K303E	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	303							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CATGTGATCTTGTCCTTGGCT	0.682000													42	47					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101075824	101075824	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:101075824C>A	uc003pqk.3	-	27	4744	c.4415G>T	c.(4414-4416)cGa>cTa	p.R1472L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1472	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATTTGTTCGAGATACAAT	0.393000													23	33					7.38237e-10	7.99122e-10	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179298770	179298770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:179298770G>T	uc003fjw.3	+	9	1092	c.919G>T	c.(919-921)Gga>Tga	p.G307*	ACTL6A_uc003fjx.3_Nonsense_Mutation_p.G265*|ACTL6A_uc003fjy.3_Nonsense_Mutation_p.G265*	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	307					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GATTCCAGAAGGATTATTTGA	0.373000													130	128					8.60981e-72	1.01576e-71	1	1	0
DCTPP1	79077	broad.mit.edu	37	16	30435583	30435583	+	Missense_Mutation	SNP	A	A	T	rs36092481		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:30435583A>T	uc002dyf.3	-	2	556	c.484T>A	c.(484-486)Tgt>Agt	p.C162S	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	Homo sapiens dCTP pyrophosphatase 1 (DCTPP1), mRNA.	162					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						GTGGAGTCACAGGGAATGTCC	0.597000													35	30					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102718326	102718326	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr14:102718326C>A	uc001ylm.3	-	4	516	c.290G>T	c.(289-291)aGa>aTa	p.R97I	MOK_uc010txv.2_Missense_Mutation_p.R67I|MOK_uc001yln.3_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	Homo sapiens MOK protein kinase (MOK), mRNA.	97	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										TAATGGGTATCTTCTCCCTGT	0.333000													52	59					9.77569e-14	1.10371e-13	1	1	0
CCR7	1236	broad.mit.edu	37	17	38711306	38711306	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:38711306G>T	uc002huw.3	-	2	900	c.825C>A	c.(823-825)ttC>ttA	p.F275L		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	275					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGGGCAGCTGGAAGACTATGA	0.552000													34	80					1.03484e-13	1.15593e-13	1	1	0
ABCA3	21	broad.mit.edu	37	16	2369834	2369834	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:2369834G>C	uc002cpy.1	-	7	1333	c.621C>G	c.(619-621)atC>atG	p.I207M	ABCA3_uc010bsk.1_Missense_Mutation_p.I207M|ABCA3_uc010bsl.1_Missense_Mutation_p.I207M	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	207					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGCCTTCCCGGATGTACCCTG	0.652000													10	23					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr11:65826742C>T	uc001ogy.1	+	10	1293	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	418					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532000													5	110					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137849689	137849689	+	Splice_Site	SNP	A	A	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:137849689A>C	uc003ers.2	-	2	610	c.408_splice	c.e2+1	p.Q136_splice		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	136					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CTAAACACTTACTTGATTGTA	0.403000													83	87					0	0	1	0	0
C14orf169	79697	broad.mit.edu	37	14	73959009	73959009	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr14:73959009G>A	uc001xok.1	+	1	1364	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	Homo sapiens chromosome 14 open reading frame 169 (C14orf169), mRNA.	430	JmjC.				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen								BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		TACCTGGGGTGACTTCTTAGA	0.542000													23	26					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910554	29910554	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:29910554T>G	uc003nol.3	+	1	178	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.F32V|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Missense_Mutation_p.F75C|HLA-A_uc010klp.2_Missense_Mutation_p.F4V|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	32	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGAGGTATTTCTTCACATC	0.726000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			23	88					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190306269	190306269	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:190306269G>C	uc002uql.1	+	0	111	c.51G>C	c.(49-51)ttG>ttC	p.L17F	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	17						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GCAGCGAGTTGAACTTTAGGA	0.587000													62	261					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11376037	11376037	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:11376037T>G	uc002rbd.1	-	4	963	c.514A>C	c.(514-516)Atg>Ctg	p.M172L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	172	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCACCAGGCATGTACTCCATT	0.358000													5	98					0	0	1	0	0
C15orf56	644809	broad.mit.edu	37	15	40544920	40544920	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr15:40544920C>T	uc001zla.1	-	0	191	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron|PAK6_uc001zky.4_Intron|PAK6_uc010bbn.3_Intron|PAK6_uc001zlb.3_5'Flank	NM_001039905	NP_001034994	Q8N910	CO056_HUMAN	Homo sapiens chromosome 15 open reading frame 56 (C15orf56), mRNA.	57										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CCCGGAGGTTCGCGGCGAGAG	0.756000													43	57					0	0	1	0	0
AC2	0	broad.mit.edu	37	1	151993859	151993863	+	Splice_Site	DEL	AGGTA	AGGTA	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:151993859_151993863delAGGTA	uc001ezm.1	+	10		c.2695_splice	c.e10+1							Homo sapiens AC2 pseudogene, precursor RNA sequence.																		AACTCAGCCCAGGTAAGGTGGCCAC	0.541													18	31	---	---	---	---					
DLX2	1746	broad.mit.edu	37	2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:172967129_172967131delGCT	uc002uhn.3	-	0	348_350	c.136_138delAGC	c.(136-138)agcdel	p.S46del	DLX2_uc010zdx.1_In_Frame_Del_p.S46del	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739													12	268	---	---	---	---					
TFPI	7035	broad.mit.edu	37	2	188332481	188332481	+	Splice_Site	DEL	T	T	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:188332481delT	uc002upy.3	-	7	1103	c.808_splice	c.e7+1	p.G270_splice		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	270					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CTTCTATACCTTTTTTACATG	0.308													9	609	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203500041	203500043	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:203500041_203500043delAGC	uc010zhx.2	+	0	141_143	c.131_133delAGC	c.(130-135)aagcag>aag	p.Q50del	FAM117B_uc010zhw.2_In_Frame_Del_p.Q50del	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	50	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TTCCAGCTGAAGCAGCAGCAGCA	0.749													4	9	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53886139	53886147	+	In_Frame_Del	DEL	CCCTCTGGT	CCCTCTGGT	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:53886139_53886147delCCCTCTGGT	uc003dha.3	+	3	379_387	c.340_348delCCCTCTGGT	c.(340-348)ccctctggtdel	p.PSG114del		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	114					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				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)		TCAGACCAGACCCTCTGGTGGTAAAGTAA	0.478													35	68	---	---	---	---					
PRKCI	5584	broad.mit.edu	37	3	170020905	170020905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:170020905delA	uc003fgs.2	+	17	2019	c.1781delA	c.(1780-1782)gaafs	p.E594fs	PRKCI_uc003fgt.2_Frame_Shift_Del_p.E149fs	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	594	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTGCAGAAGAATGTGTCTGA	0.333													36	50	---	---	---	---					
CD83	9308	broad.mit.edu	37	6	14133946	14133946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:14133946delC	uc003nbi.3	+	3	627	c.449delC	c.(448-450)gctfs	p.A150fs	CD83_uc021ylz.1_Frame_Shift_Del_p.A91fs|CD83_uc003nbh.3_Frame_Shift_Del_p.A150fs	NM_004233	NP_001238830	Q01151	CD83_HUMAN	Homo sapiens CD83 molecule (CD83), transcript variant 1, mRNA.	150					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CTGCTGCTGGCTCTGGTTATT	0.383													49	58	---	---	---	---					
EXOSC2	23404	broad.mit.edu	37	9	133579154	133579154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr9:133579154delA	uc004bzu.2	+	8	896	c.875delA	c.(874-876)gagfs	p.E292fs	EXOSC2_uc011mbz.1_Frame_Shift_Del_p.E266fs|EXOSC2_uc011mca.1_Non-coding_Transcript	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	Homo sapiens exosome component 2 (EXOSC2), mRNA.	292					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		TTGGAACAGGAGGGATAAGGA	0.478													46	46	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40914359	40914359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr15:40914359delA	uc010bbs.1	+	10	2136	c.1975delA	c.(1975-1977)agcfs	p.S659fs	CASC5_uc010ucq.1_Frame_Shift_Del_p.S483fs|CASC5_uc001zme.3_Frame_Shift_Del_p.S633fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.S633fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	659	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCCAAAAACAGCTTAACCGA	0.388													45	66	---	---	---	---					
MYH13	8735	broad.mit.edu	37	17	10215392	10215392	+	Splice_Site	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:10215392delA	uc002gmk.1	-	32	4456	c.4366_splice	c.e32-1	p.V1456_splice		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1456					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTGCAAGGACCTGGGAGAT	0.517													30	63	---	---	---	---					
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:26653806_26653807insA	uc002hat.3	+	2	663_664	c.518_519insA	c.(517-519)agafs	p.R173fs		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	173					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441													10	76	---	---	---	---					
