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
ITSN1	6453	broad.mit.edu	37	21	35147066	35147066	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr21:35147066C>G	ENST00000381318.3	+	13	1627	c.1339C>G	c.(1339-1341)Ctt>Gtt	p.L447V	ITSN1_ENST00000399349.1_Missense_Mutation_p.L447V|ITSN1_ENST00000399353.1_Missense_Mutation_p.L410V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.L447V|ITSN1_ENST00000399367.3_Missense_Mutation_p.L447V|ITSN1_ENST00000399355.2_Missense_Mutation_p.L447V|ITSN1_ENST00000381285.4_Missense_Mutation_p.L447V|ITSN1_ENST00000399352.1_Missense_Mutation_p.L447V|ITSN1_ENST00000399326.3_Missense_Mutation_p.L447V|ITSN1_ENST00000381291.4_Missense_Mutation_p.L447V|ITSN1_ENST00000379960.5_Missense_Mutation_p.L447V|ITSN1_ENST00000399338.4_Missense_Mutation_p.L447V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	447	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAACGACAACTTGAGTGGGA	0.363000													3	31					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68712464	68712464	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:68712464G>C	ENST00000264012.4	+	5	995	c.451G>C	c.(451-453)Gac>Cac	p.D151H	CDH3_ENST00000429102.2_Missense_Mutation_p.D151H|CDH3_ENST00000581171.1_Missense_Mutation_p.D96H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	151	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCCGGGGGCAGACAGCCCCCC	0.502000													19	54					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124911310	124911310	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:124911310G>A	ENST00000356219.3	-	12	1341	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.P396S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P395S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P396S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P395S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	396					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCATGGGCGGGATCACGGCC	0.627000													3	62					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40574810	40574810	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:40574810G>A	ENST00000357037.5	-	1	725	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	102					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TATTGCTCGTGGTGGCGTGCG	0.657000													8	9					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453442	21453442	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:21453442C>T	ENST00000307378.6	-	9	1470	c.750G>A	c.(748-750)ctG>ctA	p.L250L	SLCO1A2_ENST00000390670.3_Silent_p.L248L|SLCO1A2_ENST00000458504.1_Silent_p.L118L|SLCO1A2_ENST00000452078.1_Silent_p.L250L|SLCO1A2_ENST00000537524.1_Silent_p.L118L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	250					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CTGCACAAATCAGAAAGCCAA	0.413000													9	14					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910167	32910167	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:32910167C>G	ENST00000304056.4	-	4	1361	c.662G>C	c.(661-663)aGa>aCa	p.R221T	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	221										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGCATCAATTCTGATTTGGCT	0.438000													34	36					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	79					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126071755	126071755	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:126071755A>T	ENST00000318410.7	-	13	1900	c.1551T>A	c.(1549-1551)aaT>aaA	p.N517K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.N369K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	517					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATACTTGCAGATTGGATTCCA	0.363000													47	29					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27264076	27264076	+	Silent	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr21:27264076C>A	ENST00000358918.3	-	16	2314	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L	APP_ENST00000359726.3_Silent_p.L667L|APP_ENST00000357903.3_Silent_p.L704L|APP_ENST00000440126.3_Silent_p.L699L|APP_ENST00000439274.2_Silent_p.L667L|APP_ENST00000348990.5_Silent_p.L648L|APP_ENST00000346798.3_Silent_p.L723L|APP_ENST00000448388.2_Silent_p.L613L|APP_ENST00000354192.3_Silent_p.L592L	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	723			L -> V (in CAA-APP; Italian type).		adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GTTTCTTCTTCAGCATCACCA	0.448000													31	31					7.26314e-15	7.84162e-15	1	1	0
WDR91	29062	broad.mit.edu	37	7	134874169	134874169	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:134874169G>C	ENST00000354475.4	-	12	1726	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	WDR91_ENST00000423565.1_Missense_Mutation_p.I530M|WDR91_ENST00000344400.5_Missense_Mutation_p.I565M	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	565										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGTACAGTTGATAGCAATGG	0.493000													6	20					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994567	29994567	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:29994567G>A	ENST00000308893.4	+	12	2217	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TAOK2_ENST00000543033.1_Missense_Mutation_p.E392K|TAOK2_ENST00000416441.2_Missense_Mutation_p.E219K|TAOK2_ENST00000279394.3_Missense_Mutation_p.E392K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ggaggaggaagaAGGCCCTGA	0.612000													5	15					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55777590	55777590	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:55777590C>G	ENST00000255631.5	-	6	1015	c.705G>C	c.(703-705)ttG>ttC	p.L235F	HSPBP1_ENST00000433386.2_Missense_Mutation_p.L235F|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.L235F	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	238					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGCCCTCATCAACACAGAGA	0.602000													6	3					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1804679	1804679	+	Silent	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:1804679C>A	ENST00000340107.4	+	8	1225	c.969C>A	c.(967-969)ctC>ctA	p.L323L	FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000260795.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	324	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACGTGCGCCTCCGCCTGGCCA	0.677000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				8	5					0.000442599	0.000451859	1	1	0
PAH	5053	broad.mit.edu	37	12	103234220	103234220	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:103234220C>T	ENST00000553106.1	-	12	1745	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	PAH_ENST00000307000.2_Missense_Mutation_p.D420N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	425					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGGTATTGTCCAAGACCTCA	0.458000													14	56					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129196909	129196909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:129196909C>T	ENST00000296266.3	+	13	1543	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	IFT122_ENST00000349441.2_Nonsense_Mutation_p.R289*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.R392*|IFT122_ENST00000440957.2_Nonsense_Mutation_p.R191*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.R294*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.R341*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.R250*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.R400*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	400					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTACAGAAATCGATTGGCTAT	0.373000													18	88					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576214	11576214	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:11576214C>T	ENST00000294484.6	+	6	1883	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S582F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	582	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AACGTCTTCTCCCAGGTGCGG	0.627000													4	18					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1638072	1638072	+	Silent	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:1638072C>A	ENST00000252804.4	-	23	4394	c.4344G>T	c.(4342-4344)gtG>gtT	p.V1448V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1448	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCAAGCTTCCACGAAGCAGG	0.627000													3	5					0.115264	0.115738	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11418795	11418795	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:11418795C>T	ENST00000423059.4	-	26	4954	c.4703G>A	c.(4702-4704)aGa>aAa	p.R1568K	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACATCTCCTCTTTTGTCCTC	0.517000										HNSCC(18;0.044)			30	47					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44419125	44419125	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:44419125G>A	ENST00000269973.5	-	10	1553	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	ZNF45_ENST00000589703.1_Missense_Mutation_p.H155Y|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	155					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGACTCTGTGAACTTGAAGA	0.413000													7	134					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121247	29121247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr18:29121247G>A	ENST00000261590.8	+	13	2180	c.1971G>A	c.(1969-1971)tgG>tgA	p.W657*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	657					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCATCCTTGGAATAATGAAG	0.478000													14	32					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480757	172480757	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:172480757G>A	ENST00000417960.1	+	11	1444	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ECT2_ENST00000392692.3_Missense_Mutation_p.E355K|ECT2_ENST00000540509.1_Missense_Mutation_p.E355K|ECT2_ENST00000232458.5_Missense_Mutation_p.E324K|ECT2_ENST00000441497.2_Missense_Mutation_p.E324K|ECT2_ENST00000427830.1_Missense_Mutation_p.E324K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	324	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GTATTTATATGAAAAGGTATG	0.338000													36	42					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793183	44793183	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:44793183C>T	ENST00000291182.4	-	5	507	c.405G>A	c.(403-405)aaG>aaA	p.K135K	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AATCATGGTGCTTGGGGAACT	0.443000													44	89					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011801	34011801	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:34011801C>A	ENST00000373381.4	-	57	9112	c.8936G>T	c.(8935-8937)tGc>tTc	p.C2979F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2952	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGGTCACCGCAAACTCCCAC	0.552000													5	13					1.23904e-05	1.28649e-05	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151818270	151818270	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chrX:151818270G>A	ENST00000370306.2	+	6	696	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	226						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCACATGACTGAGGAGCTGCA	0.483000													85	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428167	179428167	+	Silent	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:179428167C>A	ENST00000589042.1	-	326	82916	c.82692G>T	c.(82690-82692)gcG>gcT	p.A27564A	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.A24996A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A18691A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A18624A|TTN_ENST00000460472.2_Silent_p.A18499A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.A25923A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25923	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A18691A(1)|p.A18499A(1)|p.A18624A(1)|p.A24996A(1)|p.A24994A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCATCACACGCACGGTAGA	0.488000													29	7					1.75199e-13	1.88319e-13	1	1	0
TMEM71	137835	broad.mit.edu	37	8	133723191	133723191	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:133723191C>G	ENST00000523829.1	-	9	973	c.852G>C	c.(850-852)tcG>tcC	p.S284S	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGACATTCATCGAAGGCATTC	0.373000													36	137					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389965	236389965	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:236389965C>T	ENST00000354619.5	-	11	988	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	263					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGATAATTTGCGCATAGATGT	0.303000													37	44					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100794	168100794	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:168100794T>G	ENST00000409195.1	+	9	2981	c.2892T>G	c.(2890-2892)caT>caG	p.H964Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H964Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.H742Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	789					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCATCACATAAAATAGAGG	0.358000													10	19					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95018975	95018975	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:95018975C>G	ENST00000375643.3	-	20	2390	c.2124G>C	c.(2122-2124)gaG>gaC	p.E708D	IARS_ENST00000447699.2_Missense_Mutation_p.E598D|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E708D	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	708					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCATTTCAGTCTCAAAGAAGC	0.418000													18	36					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238688092	238688092	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:238688092G>C	ENST00000308482.9	+	24	1909	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	301					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TAAAACAGAAGAGCTCGAGGT	0.483000													13	15					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951845	37951845	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:37951845T>A	ENST00000436072.2	-	4	1044	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	223	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACTTGAAGATCTCTTTTACA	0.433000													37	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113314181	113314181	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:113314181C>T	ENST00000297405.5	-	53	8525	c.8281G>A	c.(8281-8283)Gaa>Aaa	p.E2761K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E2691K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2721K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2592K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2761	Sushi 17.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGGTAGTTCTCCACAGGAA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	24					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432589	53432589	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chrX:53432589C>T	ENST00000322213.4	-	11	1874	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E349K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	583	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGGAGTTTCTCATCTGTAGGC	0.537000													22	8					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	31					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11259437	11259437	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:11259437G>A	ENST00000379261.4	+	3	392	c.300G>A	c.(298-300)caG>caA	p.Q100Q	CELF2_ENST00000416382.2_Silent_p.Q100Q|CELF2_ENST00000427450.1_Silent_p.Q76Q|CELF2_ENST00000542579.1_Silent_p.Q107Q|CELF2_ENST00000399850.3_Silent_p.Q76Q|CELF2_ENST00000450189.1_Silent_p.Q107Q|CELF2_ENST00000608830.1_Silent_p.Q76Q|CELF2_ENST00000609692.1_Silent_p.Q76Q|CELF2_ENST00000417956.2_Silent_p.Q76Q|CELF2_ENST00000315874.4_Silent_p.Q76Q|CELF2_ENST00000354897.3_Silent_p.Q76Q|CELF2_ENST00000537122.1_Intron|CELF2_ENST00000354440.2_Silent_p.Q76Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	100	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.Q95Q(1)|p.Q100Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGAGGCCCAGAATGCACTGC	0.363000													11	64					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403732	65403732	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:65403732C>T	ENST00000355703.3	+	33	6086	c.5547C>T	c.(5545-5547)ctC>ctT	p.L1849L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1849	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACCTCCCTCAGCAATAACC	0.652000													4	3					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	824485	824485	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:824485G>A	ENST00000293892.3	-	8	1755	c.1756C>T	c.(1756-1758)Ctg>Ttg	p.L586L	MSLNL_ENST00000442466.1_Silent_p.L235L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	235					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCCCCTCCAGTGTCCAGGAG	0.711000													3	5					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542000	133542000	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:133542000T>C	ENST00000409261.1	-	14	2757	c.2384A>G	c.(2383-2385)tAt>tGt	p.Y795C	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Y795C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	795							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGCTTTTGATAGATGCCCAT	0.458000													67	103					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063049	54063049	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:54063049G>C	ENST00000338662.5	-	4	1447	c.242C>G	c.(241-243)tCa>tGa	p.S81*	ATP5G2_ENST00000602871.1_Nonsense_Mutation_p.S65*|ATP5G2_ENST00000394349.3_Nonsense_Mutation_p.S122*|ATP5G2_ENST00000549164.1_Nonsense_Mutation_p.S65*	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	65					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GATGTCCCTTGAAATGGCGCT	0.562000													11	14					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151681720	151681720	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:151681720G>A	ENST00000290583.4	-	4	1175	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	CELF3_ENST00000290585.4_Missense_Mutation_p.R128W|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	128	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCTGGCCCCCGGAGCACAGTG	0.622000													38	91					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389492	56389492	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:56389492G>A	ENST00000355701.3	-	17	3560	c.2690C>T	c.(2689-2691)tCt>tTt	p.S897F	BZRAP1_ENST00000268893.6_Missense_Mutation_p.S837F|BZRAP1_ENST00000343736.4_Missense_Mutation_p.S897F	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	897	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATCTCAGCAGATGTGGCTGT	0.657000													26	21					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017590	200017590	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:200017590C>T	ENST00000367362.3	+	5	1000	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	NR5A2_ENST00000544748.1_Missense_Mutation_p.H180Y|NR5A2_ENST00000236914.3_Missense_Mutation_p.H206Y	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	252					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AATGCCCCCTCACGGCAGCCT	0.532000													37	29					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56680668	56680668	+	Splice_Site	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:56680668A>G	ENST00000558083.2	+	4	368		c.e4-1		TEX9_ENST00000352903.2_Splice_Site|TEX9_ENST00000561221.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site			Q8N6V9	TEX9_HUMAN	testis expressed 9											cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTGGCCTGTAGAGGTCTGTT	0.318000													32	36					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751785	247751785	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:247751785A>G	ENST00000320065.1	+	1	124	c.124A>G	c.(124-126)Att>Gtt	p.I42V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTACTAACTATTTTGGGGAA	0.408000													53	44					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105376	14105376	+	Silent	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:14105376T>C	ENST00000235372.7	+	8	1942	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.C161C|PRDM2_ENST00000413440.1_Silent_p.C161C|PRDM2_ENST00000311066.5_Silent_p.C362C|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	362						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGTTTCCGTGTCAACATTGTG	0.423000													35	31					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47904829	47904829	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:47904829C>T	ENST00000289672.2	-	26	4184	c.4134G>A	c.(4132-4134)gtG>gtA	p.V1378V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1378	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAGAGAAGCTCACGAGGTCCC	0.343000													10	15					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049282	21049282	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:21049282G>A	ENST00000261383.3	-	34	4750	c.4751C>T	c.(4750-4752)gCg>gTg	p.A1584V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1584V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1584	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGGTAGGTCGCAACGATCTT	0.542000													15	15					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101891297	101891297	+	Silent	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:101891297T>C	ENST00000374994.4	+	2	375	c.258T>C	c.(256-258)tgT>tgC	p.C86C	TGFBR1_ENST00000552516.1_Silent_p.C86C|TGFBR1_ENST00000550253.1_Silent_p.C17C|TGFBR1_ENST00000374990.2_Silent_p.C86C	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	86					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CGTTTGTATGTGCACCCTCTT	0.393000													17	69					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190406	66190406	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:66190406C>A	ENST00000311034.2	+	4	868	c.692C>A	c.(691-693)tCc>tAc	p.S231Y		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	231	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.S231Y(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGACATCTCCGAGAGGTAA	0.602000													11	15					3.86212e-05	3.99304e-05	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68234426	68234426	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:68234426C>T	ENST00000347230.4	-	31	5923	c.5785G>A	c.(5785-5787)Gag>Aag	p.E1929K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1929K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1929					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATTACCTGCTCATAGTAAAAT	0.413000													26	32					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114269116	114269116	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:114269116T>G	ENST00000369604.1	-	6	895	c.412A>C	c.(412-414)Atg>Ctg	p.M138L	PHTF1_ENST00000447664.2_Missense_Mutation_p.M138L|PHTF1_ENST00000369596.2_Missense_Mutation_p.M85L|PHTF1_ENST00000393357.2_Missense_Mutation_p.M138L|PHTF1_ENST00000369600.1_Missense_Mutation_p.M85L|PHTF1_ENST00000357783.2_Missense_Mutation_p.M138L|PHTF1_ENST00000369598.1_Missense_Mutation_p.M138L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	138						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTTCCCATGAGTAGCATA	0.368000													10	39					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654399	38654399	+	RNA	SNP	A	A	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:38654399A>T	ENST00000494540.1	+	0	566					NR_003086.1																						CACAGTGACAATCCATCTCAG	0.413000													15	32					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744736	98744736	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:98744736T>C	ENST00000477737.1	+	6	941	c.737T>C	c.(736-738)gTt>gCt	p.V246A	VWA3B_ENST00000435344.1_Missense_Mutation_p.V246A|VWA3B_ENST00000451075.2_Missense_Mutation_p.V96A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	246										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGGGGATGTTCCTGAAGAA	0.502000													12	75					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413713	121413713	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:121413713T>C	ENST00000393667.3	-	13	5767	c.5657A>G	c.(5656-5658)gAt>gGt	p.D1886G	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1881G	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1881					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TAGTTCACCATCCTTTGTTGA	0.368000													69	169					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46630234	46630234	+	Splice_Site	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:46630234C>A	ENST00000371347.5	+	4	757	c.505C>A	c.(505-507)Cga>Aga	p.R169R	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000452689.2_Splice_Site_p.R83R|SLC25A27_ENST00000411689.2_Splice_Site_p.R169R	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	169					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AAAACCATTGCGGTAAGTTCT	0.398000													10	33					7.93312e-07	8.30765e-07	1	1	0
INTS1	26173	broad.mit.edu	37	7	1527060	1527060	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:1527060G>C	ENST00000389470.4	-	21	2970	c.2971C>G	c.(2971-2973)Cac>Gac	p.H991D	INTS1_ENST00000404767.3_Missense_Mutation_p.H848D			Q8N201	INT1_HUMAN	integrator complex subunit 1	848					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCAGGATGTGAGGGGGAGGC	0.662000													9	8					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													3	25					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497492	52497492	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:52497492C>G	ENST00000602063.1	-	6	1186	c.837G>C	c.(835-837)caG>caC	p.Q279H	ZNF615_ENST00000594083.1_Missense_Mutation_p.Q290H|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q279H|ZNF615_ENST00000598071.1_Missense_Mutation_p.Q290H|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q284H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q290Q(1)|p.Q279Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTTCTGATGTATAT	0.403000													33	145					0	0	1	0	0
TCEANC2	127428	broad.mit.edu	37	1	54520056	54520056	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:54520056C>T	ENST00000371331.1	+	1	250	c.51C>T	c.(49-51)aaC>aaT	p.N17N	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000234827.1_5'UTR			Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	0					transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						TTGACCAGAACACGCTGCAAG	0.433000													5	11					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776923	40776923	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:40776923C>G	ENST00000381782.2	+	6	1276	c.781C>G	c.(781-783)Ctt>Gtt	p.L261V	NSUN7_ENST00000316607.5_Missense_Mutation_p.L261V|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TAAAAATGATCTTATAAATAT	0.274000													6	24					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229625748	229625748	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:229625748G>C	ENST00000261396.3	-	9	1239	c.1148C>G	c.(1147-1149)tCa>tGa	p.S383*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.S367*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	383					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AACTGCATCTGACATTTGGCA	0.358000													9	41					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30971167	30971167	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr21:30971167C>G	ENST00000399914.1	-	8	1710	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	GRIK1_ENST00000472429.1_5'UTR|BACH1_ENST00000462262.1_Intron|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.E397Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E399Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E397Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E399Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E397Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E397Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E397Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E397Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	397					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTCCTTCCTCTTTGAGACTA	0.373000													34	27					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805540	1805540	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:1805540C>G	ENST00000440486.2	+	8	1308	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S351C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S351C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	351	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCTCATCACTCTGCGTGGCTG	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				24	26					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730770	40730770	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr20:40730770C>T	ENST00000373198.4	-	27	4000	c.3765G>A	c.(3763-3765)ctG>ctA	p.L1255L	PTPRT_ENST00000373184.1_Silent_p.L1246L|PTPRT_ENST00000373193.3_Silent_p.L1239L|PTPRT_ENST00000356100.2_Silent_p.L1245L|PTPRT_ENST00000373187.1_Silent_p.L1236L|PTPRT_ENST00000373190.1_Silent_p.L1235L|PTPRT_ENST00000373201.1_Silent_p.L1226L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTACATCCATCAGTGCTGCGT	0.552000													17	20					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049890	19049890	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:19049890G>C	ENST00000380527.1	+	1	519	c.233G>C	c.(232-234)cGa>cCa	p.R78P		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	78					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						ACCAGCCAGCGAGACAATATC	0.507000													21	7					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	130					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17720719	17720719	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:17720719G>A	ENST00000355815.4	-	9	1716	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	SREBF1_ENST00000395757.1_Missense_Mutation_p.S232F|SREBF1_ENST00000338854.5_Missense_Mutation_p.S486F|SREBF1_ENST00000261646.5_Missense_Mutation_p.S486F	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	486					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCCAGGCGGGAGCGGTCCAG	0.697000													3	2					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226912	100226912	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:100226912C>T	ENST00000524871.1	+	25	3554	c.3264C>T	c.(3262-3264)acC>acT	p.T1088T	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.T1014T|CNTN5_ENST00000279463.3_Silent_p.T1088T|CNTN5_ENST00000528682.1_Silent_p.T1088T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1088					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CATCAGTCACCTTGCTCTTGG	0.418000													3	11					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431183	75431183	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:75431183T>C	ENST00000198801.5	+	2	308	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	80					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTGGACTATATGGAAGTACAT	0.602000													44	45					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24690122	24690122	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:24690122G>C	ENST00000222644.5	+	5	692	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	MPP6_ENST00000409761.1_Missense_Mutation_p.E36Q|MPP6_ENST00000396475.2_Missense_Mutation_p.E148Q			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATTTAGGGTTGAAAATAATGA	0.338000													18	29					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532017	140532017	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:140532017G>C	ENST00000231136.1	+	1	2179	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E591Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		727					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGCCCGAGGGTCCCTT	0.632000													27	66					0	0	1	0	0
PDCD6	10016	broad.mit.edu	37	5	306786	306786	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:306786C>T	ENST00000264933.4	+	4	378	c.278C>T	c.(277-279)aCg>aTg	p.T93M	AHRR_ENST00000316418.5_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000505221.1_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.T93M|AHRR_ENST00000512529.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	93	EF-hand 3.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			AAGTACATCACGGACTGGCAG	0.552000													17	28					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632388	102632388	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:102632388G>A	ENST00000332549.3	+	4	617	c.388G>A	c.(388-390)Gat>Aat	p.D130N	IL1R2_ENST00000393414.2_Missense_Mutation_p.D130N|IL1R2_ENST00000441002.1_Missense_Mutation_p.D130N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	130					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGAGAATACAGATGCTTTCCT	0.388000													19	49					0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42019806	42019806	+	Silent	SNP	G	G	A	rs141205851	by1000genomes	TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:42019806G>A	ENST00000518421.1	+	5	744	c.453G>A	c.(451-453)acG>acA	p.T151T	AP3M2_ENST00000396926.3_Silent_p.T151T|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Silent_p.T151T|AP3M2_ENST00000174653.3_Silent_p.T151T	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	151					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGAAGCACGAATGTGGGTG	0.453000													45	74					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327116	16327116	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:16327116C>T	ENST00000244769.4	-	8	2362	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S	ATXN1_ENST00000436367.1_Missense_Mutation_p.G476S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	476					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCAGGCTGCCGGCGTAGGTG	0.682000													22	69					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433506	55433506	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:55433506G>A	ENST00000314259.3	+	1	893	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATACACTGAGGAATGCAGAGG	0.448000													17	18					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040216	14040216	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:14040216C>G	ENST00000318003.7	+	25	2785	c.2544C>G	c.(2542-2544)ctC>ctG	p.L848L	CC2D1A_ENST00000589606.1_Silent_p.L847L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	848					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCATAGCCTCAGTGTGCTGG	0.602000													32	97					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994094	56994094	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:56994094C>T	ENST00000179765.5	-	25	4892	c.4693G>A	c.(4693-4695)Gta>Ata	p.V1565I	BAZ2A_ENST00000379441.3_Missense_Mutation_p.V1567I|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V1597I|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V1595I			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1597					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CGCCGTTCTACATTCTGTTCC	0.622000													20	22					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99808747	99808747	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr7:99808747C>T	ENST00000426455.1	+	30	3759	c.3352C>T	c.(3352-3354)Ccc>Tcc	p.P1118S	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.P1118S|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.P1060S	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1118					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCAGGCAGCCCCTGTGGGG	0.582000													3	31					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110850	151110850	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:151110850C>G	ENST00000341697.3	-	8	2180	c.489G>C	c.(487-489)ctG>ctC	p.L163L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	163	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCCCACTCAGTTCCTCAC	0.572000													10	4					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734173	28734173	+	RNA	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:28734173C>T	ENST00000550043.1	+	0	578																											ACACCCGAAGCGCACGGCCAC	0.473000													20	35					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32863787	32863787	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr13:32863787G>C	ENST00000380250.3	+	59	8983	c.8487G>C	c.(8485-8487)caG>caC	p.Q2829H	FRY_ENST00000542859.1_Missense_Mutation_p.Q199H|FRY_ENST00000380217.1_Missense_Mutation_p.Q11H	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACTGTGTCAGAGATTATATA	0.403000													11	30					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695407	100695407	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:100695407C>G	ENST00000268070.4	-	9	1405	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	434	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCAAGGTCATCTCGGCTGCAG	0.473000													5	22					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183823157	183823157	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:183823157G>C	ENST00000415389.2	+	6	1128	c.662G>C	c.(661-663)aGc>aCc	p.S221T	HTR3E_ENST00000440596.2_Missense_Mutation_p.S247T|HTR3E_ENST00000425359.2_Missense_Mutation_p.S206T|HTR3E_ENST00000335304.2_Missense_Mutation_p.S236T|HTR3E_ENST00000436361.2_Missense_Mutation_p.S221T	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	221						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGGGCCTCAGCAAGGCCACC	0.527000													17	48					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99854640	99854640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chrX:99854640C>T	ENST00000373031.4	+	7	1097	c.880C>T	c.(880-882)Caa>Taa	p.Q294*		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	294						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ATACTGCTACCAAGGAGGACG	0.507000													12	3					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812855	45812855	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:45812855G>A	ENST00000358525.4	-	6	904	c.789C>T	c.(787-789)gcC>gcT	p.A263A	SLC6A20_ENST00000456124.2_Silent_p.A263A|SLC6A20_ENST00000353278.4_Silent_p.A226A	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	263					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CATTGTAGCTGGCGAAGGCGA	0.552000													27	10					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969620	240969620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:240969620C>T	ENST00000366565.1	-	15	1470	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.W279*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.W363*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.W363*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.W310*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.W363*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.W310*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.W363*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.W337*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	363	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCACTGCCAGCCAGAATCTAT	0.468000													38	53					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141385839	141385839	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:141385839G>A	ENST00000508177.1	-	3	1037	c.279C>T	c.(277-279)ttC>ttT	p.F93F	GNPDA1_ENST00000458112.2_Silent_p.F59F|GNPDA1_ENST00000513454.1_Silent_p.F93F|GNPDA1_ENST00000500692.2_Silent_p.F93F|GNPDA1_ENST00000503794.1_Silent_p.F93F|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000311337.6_Silent_p.F93F			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	93					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTTGAAGAAGTTGTTCC	0.527000													3	41					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389569	57389569	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:57389569C>T	ENST00000300098.1	+	2	795	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGGTCCACATCCAGCTGGTGG	0.657000													19	32					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706765	189706765	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:189706765C>G	ENST00000319332.5	-	4	1083	c.886G>C	c.(886-888)Ggc>Cgc	p.G296R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G115R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	296					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGAGGCGGCCAGGGCGGGTG	0.493000													34	36					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776905	40776905	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:40776905T>C	ENST00000381782.2	+	6	1258	c.763T>C	c.(763-765)Tct>Cct	p.S255P	NSUN7_ENST00000316607.5_Missense_Mutation_p.S255P|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTTTTCCATCTCATCTTAA	0.264000													7	26					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6647116	6647116	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:6647116G>T	ENST00000229239.5	+	8	1558	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	GAPDH_ENST00000396859.1_Missense_Mutation_p.G298W|GAPDH_ENST00000396861.1_Missense_Mutation_p.G298W|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396856.1_Missense_Mutation_p.G223W|GAPDH_ENST00000396858.1_Missense_Mutation_p.G256W	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	298					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CTTTGACGCTGGGGCTGGCAT	0.602000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					8.12818e-05	8.3331e-05	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109190907	109190907	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:109190907C>A	ENST00000261483.4	+	20	4095	c.3043C>A	c.(3043-3045)Cat>Aat	p.H1015N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1015					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCTCATGAATCATCCAGTCAT	0.393000													12	12					1.52009e-12	1.62676e-12	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152737750	152737750	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:152737750C>T	ENST00000367255.5	-	41	6423	c.5822G>A	c.(5821-5823)aGc>aAc	p.S1941N	SYNE1_ENST00000341594.5_Missense_Mutation_p.S1978N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1948N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1941N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1948N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1941					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCAGAGCTCCCGATTTT	0.498000										HNSCC(10;0.0054)			14	46					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:100530103C>G	ENST00000457717.1	+	13	1994	c.1738C>G	c.(1738-1740)Caa>Gaa	p.Q580E	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.Q580E|MTTP_ENST00000511045.1_Missense_Mutation_p.Q607E	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGCCATTGTTCAAGACATCCT	0.403000													35	46					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120759046	120759046	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:120759046C>A	ENST00000378164.2	-	23	3305	c.3007G>T	c.(3007-3009)Gct>Tct	p.A1003S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1003					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCAAGACAGCTTTTTTCTCC	0.453000													27	179					7.38237e-10	7.83173e-10	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73020517	73020517	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:73020517C>G	ENST00000263674.3	+	1	1184	c.834C>G	c.(832-834)gaC>gaG	p.D278E		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	278					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGGCAGTGACGACGACCGAG	0.701000													7	28					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543668	29543668	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:29543668G>T	ENST00000389048.3	-	7	2401	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	499	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGCCATTGAGGAGTGTGGGGT	0.552000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				52	51					9.90819e-18	1.07449e-17	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105781203	105781203	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:105781203G>A	ENST00000393127.2	+	10	1647	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	GRIA4_ENST00000525187.1_Missense_Mutation_p.D401N|GRIA4_ENST00000428631.2_Missense_Mutation_p.D401N|GRIA4_ENST00000393125.2_Missense_Mutation_p.D401N|GRIA4_ENST00000530497.1_Missense_Mutation_p.D401N|GRIA4_ENST00000282499.5_Missense_Mutation_p.D401N	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	401					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTGATTCAAGATGTACCAAC	0.378000													14	23					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279027	36279027	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:36279027C>G	ENST00000007510.4	+	21	3704	c.3560C>G	c.(3559-3561)tCt>tGt	p.S1187C	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1026C|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1023C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1187	Poly-Ser.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCTCCTCCTCTTCCCCTCCT	0.692000													35	32					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44582456	44582456	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr20:44582456C>T	ENST00000322927.2	-	18	2674	c.2574G>A	c.(2572-2574)gaG>gaA	p.E858E	ZNF335_ENST00000426788.1_Silent_p.E703E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	858					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTAGCTGGCTCTCGGCTGCTG	0.652000													9	30					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88854364	88854364	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:88854364C>G	ENST00000277865.4	-	1	259	c.163G>C	c.(163-165)Gag>Cag	p.E55Q		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	55					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCCACCGCCTCGCTGTAGTGG	0.731000													30	11					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118426240	118426240	+	Missense_Mutation	SNP	A	A	T	rs143456408		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:118426240A>T	ENST00000369443.5	-	11	1366	c.1117T>A	c.(1117-1119)Tat>Aat	p.Y373N	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.Y373N	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGAATGAAATATAAGAGAGCC	0.358000													18	14					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959890	53959890	+	RNA	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:53959890G>C	ENST00000454407.1	+	0	2582							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGCCACCATAGACTTCATACT	0.393000													69	66					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248409	59248409	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:59248409C>T	ENST00000371222.2	-	1	1376	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	112					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	p.E112Q(1)|p.E112K(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	ACGAAGCCCTCGGCGAAGCCC	0.672000			A		sarcoma								33	32					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243920	41243920	+	Missense_Mutation	SNP	C	C	G	rs80357729		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:41243920C>G	ENST00000309486.4	-	9	3767	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q	BRCA1_ENST00000471181.2_Missense_Mutation_p.E1210Q|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1210Q|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1163Q|BRCA1_ENST00000346315.3_Missense_Mutation_p.E1210Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E1210Q|BRCA1_ENST00000591534.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1210					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGAGGACTCTAATTTCTTG	0.438000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			30	22					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545261	186545261	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:186545261C>T	ENST00000431808.1	-	14	1873	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.R341K|SORBS2_ENST00000284776.7_Missense_Mutation_p.R437K|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.R537K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	437						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGTCTGATCCTTGATCTGCC	0.592000													16	54					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35046680	35046680	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:35046680A>T	ENST00000290374.4	-	1	486	c.10T>A	c.(10-12)Tgg>Agg	p.W4R		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	4					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AAGATGGTCCATTCCCCCATC	0.677000													31	50					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	A	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:107114004A>C	ENST00000454421.2	-	0	167																											GGCTGGACCAAGCCTTCCCCA	0.577000													4	149					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665977	665977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:665977C>A	ENST00000266383.5	+	15	2338	c.2325C>A	c.(2323-2325)tgC>tgA	p.C775*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	775						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAAGCTGTGCTGGCCTCAGG	0.652000													9	16					1.76689e-08	1.86633e-08	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55039430	55039430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:55039430G>A	ENST00000370862.3	+	1	381	c.45G>A	c.(43-45)tgG>tgA	p.W15*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	15					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTCGCAACTGGTCATCTGCTT	0.567000													24	68					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952496	51952496	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr13:51952496G>A	ENST00000311234.4	-	12	1953	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	INTS6_ENST00000398119.2_Missense_Mutation_p.S481L|INTS6_ENST00000497989.1_Missense_Mutation_p.S316L|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.S178L|INTS6_ENST00000425000.1_Missense_Mutation_p.S62L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	494					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATATGCCATTGATAAACCATG	0.418000													45	52					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100084512	100084512	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:100084512C>T	ENST00000284320.5	-	12	2171	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	575					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCCGATTTGGCCAGGTTAATA	0.398000													4	122					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57273808	57273808	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr20:57273808G>A	ENST00000356091.6	+	4	864	c.576G>A	c.(574-576)atG>atA	p.M192I	NPEPL1_ENST00000525817.1_Missense_Mutation_p.M144I|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.M164I	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	192					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GCAATGAGATGAACACCGACA	0.607000													5	27					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120480577	120480577	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:120480577C>G	ENST00000256646.2	-	20	3459	c.3240G>C	c.(3238-3240)caG>caC	p.Q1080H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1080	EGF-like 28.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTTTTTTCTGAACGCAAG	0.478000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	118					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137880904	137880904	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:137880904C>G	ENST00000260803.4	-	8	1615	c.1462G>C	c.(1462-1464)Gat>Cat	p.D488H	DBR1_ENST00000505015.2_Missense_Mutation_p.D254H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	488						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCCTCTCTATCAATTGTGGAA	0.458000													24	120					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114246717	114246717	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:114246717C>T	ENST00000259335.4	-	2	195	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTGCGCCTCCCGCCGAACT	0.701000													10	3					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34156767	34156767	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:34156767G>A	ENST00000257829.3	+	19	2163	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NAT10_ENST00000531159.2_Missense_Mutation_p.E581K|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	653	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GATGTACTATGAAGGCAGGTT	0.532000													24	73					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072297	134072297	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:134072297C>T	ENST00000264360.5	+	1	1828	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGACCTGGGCCCCAACGCCG	0.597000													17	43					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2434297	2434297	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:2434297C>G	ENST00000325327.3	-	7	1260	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	LMNB2_ENST00000582871.1_Missense_Mutation_p.E380Q			Q03252	LMNB2_HUMAN	lamin B2	380	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACCTCTCCTCCTCGCCC	0.687000													4	16					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:46124545C>T	ENST00000536630.1	-	14	1621	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	EML2_ENST00000589876.1_Missense_Mutation_p.G348R|EML2_ENST00000587152.1_Missense_Mutation_p.G549R|EML2_ENST00000245925.3_Missense_Mutation_p.G348R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	348					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627000													31	29					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38240221	38240221	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:38240221C>T	ENST00000311806.3	+	4	673	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	OXSR1_ENST00000446845.1_Silent_p.L101L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	101	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGGTTCTGTTCTGGATATTAT	0.358000													31	7					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48212557	48212557	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:48212557T>G	ENST00000394747.1	-	23	3648	c.3299A>C	c.(3298-3300)gAg>gCg	p.E1100A	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.E1100A|ABCC11_ENST00000353782.5_Missense_Mutation_p.E1100A|ABCC11_ENST00000356608.2_Missense_Mutation_p.E1100A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1100	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGCCTCTGTCTCCAAGCCAAT	0.587000													13	46					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228247918	228247918	+	Silent	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:228247918A>G	ENST00000366753.2	+	5	1118	c.1071A>G	c.(1069-1071)agA>agG	p.R357R	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCGGCTCCAGAGCAGGAAATT	0.632000													15	56					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370074	11370074	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:11370074G>T	ENST00000435245.2	-	1	263	c.154C>A	c.(154-156)Cac>Aac	p.H52N	PRM2_ENST00000241808.4_Missense_Mutation_p.H52N|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	52				H -> Q (in Ref. 1; CAA30710).	chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CGCCTATAGTGAGACTGGCCA	0.632000													22	66					6.36457e-07	6.69378e-07	1	1	0
CERS1	10715	broad.mit.edu	37	19	19004331	19004331	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:19004331C>G	ENST00000427170.2	-	2	374	c.303G>C	c.(301-303)gaG>gaC	p.E101D	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000542296.2_Missense_Mutation_p.E3D|CERS1_ENST00000429504.2_Missense_Mutation_p.E101D	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	101	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						TCCAAGCGCTCTCGGGCATCT	0.617000													7	9					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44066930	44066930	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:44066930C>G	ENST00000319359.3	-	7	1328	c.687G>C	c.(685-687)aaG>aaC	p.K229N	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	229					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTGAACCTCTTTTCTTCCA	0.453000													15	11					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670091	10670091	+	Missense_Mutation	SNP	C	C	T	rs113565782		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:10670091C>T	ENST00000312962.6	-	12	1175	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	KRI1_ENST00000361821.5_Missense_Mutation_p.E382K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	386	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCCCCTCCTCGAGGCCCAGC	0.587000													21	24					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177906504	177906504	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:177906504T>C	ENST00000308284.6	-	19	2437	c.2348A>G	c.(2347-2349)tAc>tGc	p.Y783C	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	783					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCCTGCTGGGTAGGAGCCCGG	0.647000													17	6					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125617635	125617635	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:125617635C>T	ENST00000305738.5	+	4	177	c.165C>T	c.(163-165)ttC>ttT	p.F55F	PATE1_ENST00000437148.2_Silent_p.F43F	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	55						extracellular region				large_intestine(1)|lung(5)	6						ACCTCCAGTTCCCAGGAGAAA	0.488000													10	39					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66839277	66839277	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:66839277A>G	ENST00000359742.4	-	12	1606	c.1366T>C	c.(1366-1368)Tcc>Ccc	p.S456P	GRIP1_ENST00000398016.3_Missense_Mutation_p.S404P|GRIP1_ENST00000286445.7_Missense_Mutation_p.S456P			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	456					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTGTGCTGGAGGCTAAGGAC	0.478000													6	20					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125237800	125237800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:125237800C>G	ENST00000298282.9	+	5	417	c.146C>G	c.(145-147)tCa>tGa	p.S49*	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	49						nucleus	sequence-specific DNA binding transcription factor activity	p.S49L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCTGCCCCCTCAGCTGCTGCC	0.632000													6	20					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916872	150916872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:150916872G>C	ENST00000309180.5	-	3	532	c.302C>G	c.(301-303)tCa>tGa	p.S101*	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	101						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAGATAATTGATAAATACAT	0.418000													31	93					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639921	97639921	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr13:97639921G>C	ENST00000298440.1	-	4	336	c.93C>G	c.(91-93)ctC>ctG	p.L31L	OXGR1_ENST00000543457.1_Silent_p.L31L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	31						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AGTGCATCTTGAGTGGGATGT	0.408000													15	31					0	0	1	0	0
CEND1	51286	broad.mit.edu	37	11	788458	788458	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:788458G>A	ENST00000330106.4	-	2	294	c.119C>T	c.(118-120)tCg>tTg	p.S40L	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	40						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCTTCTTCGAGGGCTTGGT	0.687000													47	43					0	0	1	0	0
KCNMB3	27094	broad.mit.edu	37	3	178984454	178984454	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:178984454G>C	ENST00000349697.2	-	1	305	c.45C>G	c.(43-45)agC>agG	p.S15R	KCNMB3_ENST00000497599.1_Missense_Mutation_p.S15R	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			GGCGCCTCCGGCTGCCCTGAA	0.597000													5	38					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105350343	105350343	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:105350343C>T	ENST00000453495.1	+	9	1458	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CEP170B_ENST00000418279.1_Silent_p.F339F|CEP170B_ENST00000414716.3_Silent_p.F409F|CEP170B_ENST00000556508.1_Silent_p.F339F					centrosomal protein 170B																		TCGAGTTCTTCGACGAGGACA	0.652000													5	16					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900694	64900694	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:64900694G>C	ENST00000526060.1	-	3	354	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SYVN1_ENST00000294256.8_Silent_p.V54V|SYVN1_ENST00000377190.3_Silent_p.V54V|SYVN1_ENST00000307289.6_Silent_p.V54V			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	54					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCAGAAGGAAGACAAGGACAA	0.557000													16	40					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419101	27419101	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:27419101C>G	ENST00000211936.6	-	6	2521	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T	ZNF184_ENST00000377419.1_Missense_Mutation_p.R746T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	746				R -> K (in Ref. 4; AAC51180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGGATGCAGTCTCTGATGTTT	0.383000													59	43					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	599090	599090	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:599090T>C	ENST00000230449.4	-	8	1013	c.878A>G	c.(877-879)aAt>aGt	p.N293S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	293					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTTGAATATTCCTTTCAAT	0.299000													28	120					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13616859	13616859	+	Silent	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:13616859T>C	ENST00000360228.5	-	1	179	c.180A>G	c.(178-180)gcA>gcG	p.A60A	CACNA1A_ENST00000573710.2_Silent_p.A60A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	60					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTTGTAGAGTGCCATGGTCC	0.627000													3	19					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72956705	72956705	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:72956705C>G	ENST00000261180.4	+	9	1888	c.1792C>G	c.(1792-1794)Cct>Gct	p.P598A	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	598					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GATGGGTTATCCTGTTATCAC	0.323000													41	93					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294899	128294899	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:128294899G>A	ENST00000368227.3	-	29	4460	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	PTPRK_ENST00000368226.4_Missense_Mutation_p.S1348F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1380F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S1347F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1366F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1370F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S1354F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1347	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGACCTTTTGGATCCAGGCAC	0.483000													15	44					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48549906	48549906	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:48549906G>A	ENST00000427954.2	+	13	1559	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ACSF2_ENST00000300441.4_Missense_Mutation_p.E481K|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000504392.1_Missense_Mutation_p.E438K|ACSF2_ENST00000541920.1_Missense_Mutation_p.E321K|ACSF2_ENST00000502667.1_Missense_Mutation_p.E468K			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	481					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAAGACAGAGGAAGCAGTGGA	0.637000													20	35					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130918826	130918826	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:130918826C>T	ENST00000409031.1	-	11	2149	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Missense_Mutation_p.D48N|SMPD4_ENST00000351288.6_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	295					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GACACTGAGTCGGTAGTGCAG	0.597000													42	50					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50059683	50059683	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:50059683C>T	ENST00000335154.5	-	4	533	c.300G>A	c.(298-300)agG>agA	p.R100R	FMNL3_ENST00000550488.1_Silent_p.R100R|FMNL3_ENST00000293590.5_Silent_p.R100R|FMNL3_ENST00000352151.5_Silent_p.R100R	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	100	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCACCCTCCTCCTGAACTTCT	0.507000													13	58					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6647115	6647115	+	Silent	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:6647115T>C	ENST00000229239.5	+	8	1557	c.891T>C	c.(889-891)gcT>gcC	p.A297A	GAPDH_ENST00000396859.1_Silent_p.A297A|GAPDH_ENST00000396861.1_Silent_p.A297A|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396856.1_Silent_p.A222A|GAPDH_ENST00000396858.1_Silent_p.A255A	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	297					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CCTTTGACGCTGGGGCTGGCA	0.602000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586511	10586511	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:10586511T>G	ENST00000265012.4	+	1	533	c.289T>G	c.(289-291)Ttg>Gtg	p.L97V	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	97						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGCATTCCCTTTGGCCTATGT	0.458000													14	37					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34158254	34158254	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:34158254G>C	ENST00000257829.3	+	20	2300	c.2094G>C	c.(2092-2094)ttG>ttC	p.L698F	NAT10_ENST00000531159.2_Missense_Mutation_p.L626F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	698	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TCCTCAAATTGAATGAGAGGC	0.552000													23	43					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204950942	204950942	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:204950942C>G	ENST00000367172.4	+	21	2592	c.2264C>G	c.(2263-2265)tCg>tGg	p.S755W	NFASC_ENST00000404907.1_Missense_Mutation_p.S751W|NFASC_ENST00000339876.6_Missense_Mutation_p.S755W|NFASC_ENST00000404076.1_Missense_Mutation_p.S734W|NFASC_ENST00000539706.1_Missense_Mutation_p.S751W|NFASC_ENST00000367171.4_Missense_Mutation_p.S740W|NFASC_ENST00000367169.4_Missense_Mutation_p.S755W|NFASC_ENST00000338586.6_Missense_Mutation_p.S755W|NFASC_ENST00000513543.1_Missense_Mutation_p.S751W|NFASC_ENST00000360049.4_Missense_Mutation_p.S751W|NFASC_ENST00000367170.4_Missense_Mutation_p.S755W|NFASC_ENST00000338515.6_Missense_Mutation_p.S755W|NFASC_ENST00000401399.1_Missense_Mutation_p.S755W			O94856	NFASC_HUMAN	neurofascin	755	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AATGCCACCTCGGCCTTTGGC	0.627000													9	22					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639452	58639452	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:58639452G>C	ENST00000358781.2	-	3	380	c.70C>G	c.(70-72)Cga>Gga	p.R24G		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGTAGCTTCGAATAAACATC	0.587000													61	28					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801482	140801482	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:140801482C>T	ENST00000398587.2	+	1	721	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R230C|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTCCCATTCGTGTGGTGGT	0.537000													16	27					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			22	9					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480511	172480511	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:172480511G>C	ENST00000417960.1	+	10	1301	c.824G>C	c.(823-825)aGa>aCa	p.R275T	ECT2_ENST00000392692.3_Missense_Mutation_p.R307T|ECT2_ENST00000540509.1_Missense_Mutation_p.R307T|ECT2_ENST00000232458.5_Missense_Mutation_p.R276T|ECT2_ENST00000441497.2_Missense_Mutation_p.R276T|ECT2_ENST00000427830.1_Missense_Mutation_p.R276T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	276	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GGAGATGAAAGATGCACTCAC	0.338000													40	41					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36668883	36668883	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr20:36668883C>T	ENST00000373433.4	+	2	600	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	66	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CGAATGATGTCATCCAAAACA	0.323000													40	34					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38212328	38212328	+	Splice_Site	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr22:38212328G>A	ENST00000323205.6	+	8	1249	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	GCAT_ENST00000248924.6_Splice_Site_p.G370S	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	370					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCTGAAGAGAGGTAAGGGTGC	0.612000													6	21					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737707	216737707	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:216737707G>C	ENST00000391890.3	-	7	1185	c.668C>G	c.(667-669)tCa>tGa	p.S223*	ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S216*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S216*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S216*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S216*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S216*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S177*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S216*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S216*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S216*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S251*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S216*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.S239*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	239					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAACAAATGTGAGACAATCTT	0.453000													8	40					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13273152	13273152	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:13273152G>C	ENST00000379350.1	+	10	1581	c.1452G>C	c.(1450-1452)aaG>aaC	p.K484N	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379335.3_Intron|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000379329.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGAAACGTAAGTGACTAAGCC	0.458000													29	71					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009994	53009994	+	Silent	SNP	C	C	T	rs139888404		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:53009994C>T	ENST00000305748.3	-	2	652	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTCAGCTCCGAGTCCAGCC	0.607000													38	34					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005536	25005536	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:25005536C>A	ENST00000382114.4	-	8	1360	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	392						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GACCTGGGAGCGGCTGGACAG	0.507000													4	109					0.150653	0.150653	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2777958	2777958	+	Silent	SNP	T	T	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:2777958T>C	ENST00000397461.1	+	4	499	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L	CNTN4_ENST00000418658.1_Silent_p.L39L|CNTN4_ENST00000427331.1_Silent_p.L39L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	39	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATGTTCCCTTTGGATTCTGA	0.373000													19	81					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14482799	14482799	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:14482799G>C	ENST00000344204.4	+	46	6598	c.6574G>C	c.(6574-6576)Gag>Cag	p.E2192Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E2192Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2192	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTCCTCTTTGAGCAGATCGT	0.493000													33	49					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94808156	94808156	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:94808156C>A	ENST00000453321.3	+	18	1859	c.1801C>A	c.(1801-1803)Cca>Aca	p.P601T	TMEM67_ENST00000409623.3_Missense_Mutation_p.P520T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	601					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGTTTTGCTGCCAATGCCAAT	0.338000													31	123					2.48696e-23	2.70901e-23	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080555	194080555	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:194080555G>C	ENST00000347624.3	-	2	1303	c.1218C>G	c.(1216-1218)ctC>ctG	p.L406L	LRRC15_ENST00000428839.1_Silent_p.L412L|LRRC15_ENST00000439944.2_Silent_p.L412L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	406						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGAAGATGCCGAGGGGCAAGT	0.572000													3	24					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063120	54063120	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:54063120G>C	ENST00000338662.5	-	4	1376	c.171C>G	c.(169-171)ctC>ctG	p.L57L	ATP5G2_ENST00000602871.1_Silent_p.L41L|ATP5G2_ENST00000394349.3_Silent_p.L98L|ATP5G2_ENST00000549164.1_Silent_p.L41L	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	41					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CCAAGCTGCTGAGGCTCTGTG	0.463000													9	9					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65733791	65733791	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:65733791G>A	ENST00000253247.4	+	12	1501	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NOL11_ENST00000535137.1_Silent_p.T280T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	462						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATCCAAACGCATGTGCTTT	0.408000													79	87					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64109639	64109639	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:64109639G>C	ENST00000337130.5	+	4	771	c.295G>C	c.(295-297)Gat>Cat	p.D99H	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.D108H|UGP2_ENST00000467648.2_Missense_Mutation_p.D88H|UGP2_ENST00000394417.2_Missense_Mutation_p.D88H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	99					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GGGCTTGCCTGATAATATATC	0.398000													34	40					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89103996	89103996	+	RNA	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:89103996G>C	ENST00000393525.3	+	0	4470																											AAAATAACTTGAGTATTTATA	0.343000													11	7					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118712	194118712	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:194118712C>T	ENST00000401815.1	-	1	371	c.300G>A	c.(298-300)ctG>ctA	p.L100L	GP5_ENST00000323007.3_Silent_p.L100L			P40197	GPV_HUMAN	glycoprotein V (platelet)	100					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCAGGGTTTTCAGTTTTATCA	0.567000													45	103					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2673327	2673327	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr18:2673327C>T	ENST00000320876.6	+	4	810	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R158C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	158					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACTTCTCGTAACATTGG	0.323000													9	12					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32449685	32449685	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:32449685G>A	ENST00000404025.2	-	10	3420	c.2932C>T	c.(2932-2934)Cta>Tta	p.L978L	NLRC4_ENST00000342905.6_Silent_p.L313L|NLRC4_ENST00000360906.5_Silent_p.L978L|NLRC4_ENST00000402280.1_Silent_p.L978L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	978					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGATCAGGTAGAAATTCTTTA	0.398000													6	33					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156438615	156438615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:156438615G>A	ENST00000348159.4	-	10	1684	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	MEF2D_ENST00000368240.2_Nonsense_Mutation_p.Q395*|MEF2D_ENST00000340875.5_Nonsense_Mutation_p.Q401*|MEF2D_ENST00000464356.2_Nonsense_Mutation_p.Q394*|MEF2D_ENST00000353795.3_Nonsense_Mutation_p.Q356*|MEF2D_ENST00000360595.3_Nonsense_Mutation_p.Q395*	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	402	Gln/Pro-rich.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTGTTGCTGAGGTGgctgt	0.622000													14	25					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497363	51497363	+	Splice_Site	SNP	T	T	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:51497363T>A	ENST00000371117.3	-	65	11940	c.11665A>T	c.(11665-11667)Aaa>Taa	p.K3889*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3889					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACTACATACTTCTGCTTTTG	0.383000													11	16					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237041	160237041	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr6:160237041C>G	ENST00000610273.1	+	13	1174	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	PNLDC1_ENST00000392167.3_Missense_Mutation_p.H346D	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGAGATTGTTCACGCGAGCAG	0.438000													19	48					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278684	36278684	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:36278684C>G	ENST00000007510.4	+	21	3361	c.3217C>G	c.(3217-3219)Ctg>Gtg	p.L1073V	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.L912V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.L909V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1073					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGGAGCTCTCTGGGCCCCCC	0.672000													12	13					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38240301	38240301	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:38240301C>G	ENST00000311806.3	+	4	753	c.381C>G	c.(379-381)ctC>ctG	p.L127L	OXSR1_ENST00000446845.1_Silent_p.L127L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	127	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTACGATACTCCGAGAAGTAC	0.398000													42	18					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793907	215793907	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr1:215793907C>G	ENST00000259154.4	+	18	2689	c.2395C>G	c.(2395-2397)Cca>Gca	p.P799A	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	799						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAAGACTACTCCATCTCCTCG	0.428000													38	31					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233160	28233160	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:28233160G>A	ENST00000305242.5	-	12	1826	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	ARMC4_ENST00000545014.1_Silent_p.I103I|ARMC4_ENST00000537576.1_Silent_p.I270I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	578							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCAGTTTGGTGATACCCCCGT	0.532000													13	22					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45209869	45209869	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:45209869G>C	ENST00000429094.2	-	3	739	c.235C>G	c.(235-237)Cag>Gag	p.Q79E	NELL2_ENST00000452445.2_Missense_Mutation_p.Q79E|NELL2_ENST00000548826.1_Missense_Mutation_p.Q79E|NELL2_ENST00000333837.4_Missense_Mutation_p.Q102E|NELL2_ENST00000549027.1_Missense_Mutation_p.Q78E|NELL2_ENST00000395487.2_Missense_Mutation_p.Q78E|NELL2_ENST00000437801.2_Missense_Mutation_p.Q129E|NELL2_ENST00000551601.1_Missense_Mutation_p.Q78E|NELL2_ENST00000547172.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	79	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTCAGCTTCTGAAAAAACTGT	0.333000													30	35					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				10	6					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48668456	48668456	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:48668456C>G	ENST00000358747.6	-	8	1291	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	SLC26A6_ENST00000420764.2_Silent_p.L368L|SLC26A6_ENST00000337000.8_Silent_p.L261L|SLC26A6_ENST00000455886.2_Silent_p.L332L|SLC26A6_ENST00000395550.2_Silent_p.L368L|SLC26A6_ENST00000383733.3_Silent_p.L368L	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCCGTGCCTCAGGGCGAAGA	0.612000													56	10					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346255	233346255	+	Silent	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:233346255G>A	ENST00000304546.1	-	14	2160	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	ECEL1_ENST00000409941.1_Silent_p.I648I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	650					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)		AGAGACGGACGATGCACTCAG	0.647000													6	4					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67305026	67305026	+	Silent	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr16:67305026C>A	ENST00000299798.11	+	16	2669	c.2604C>A	c.(2602-2604)ctC>ctA	p.L868L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	868					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGCAGCCCCTCATGGGCCACA	0.662000													4	18					0.000602214	0.000612251	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110476946	110476946	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:110476946G>A	ENST00000378402.5	+	49	7989	c.7885G>A	c.(7885-7887)Gaa>Aaa	p.E2629K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2629					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATCTTTGAGGAATATTTCCC	0.388000										HNSCC(38;0.096)			77	76					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	59					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29041194	29041194	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr18:29041194C>T	ENST00000257189.4	+	8	901	c.818C>T	c.(817-819)tCa>tTa	p.S273L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	273	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCAGTATTCAGCACGTATT	0.313000													12	10					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42463198	42463198	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr17:42463198G>C	ENST00000262407.5	-	3	433	c.402C>G	c.(400-402)gtC>gtG	p.V134V	ITGA2B_ENST00000353281.4_Silent_p.V134V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	134					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCACCACAATGACGTCGCTCC	0.642000													3	6					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26377228	26377228	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:26377228C>G	ENST00000242729.2	+	2	459	c.282C>G	c.(280-282)gtC>gtG	p.V94V	SSPN_ENST00000422622.2_5'UTR|SSPN_ENST00000540266.1_5'UTR|SSPN_ENST00000535504.1_Silent_p.V94V|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	94					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CCTTGCAGGTCTGCTTAGTGG	0.408000													67	106					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26355924	26355924	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:26355924A>C	ENST00000265944.5	+	11	1140	c.974A>C	c.(973-975)aAg>aCg	p.K325T	MYO3A_ENST00000543632.1_Missense_Mutation_p.K325T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	325					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCACACGAAGAAAGGGAAC	0.343000													10	82					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086605	53086605	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:53086605C>T	ENST00000341809.3	-	6	1168	c.1140G>A	c.(1138-1140)atG>atA	p.M380I	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.M147I	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	380	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGCAATCTCCATCTTGCTGT	0.587000													7	37					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131904852	131904852	+	Silent	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:131904852G>C	ENST00000524946.2	+	2	322	c.129G>C	c.(127-129)gtG>gtC	p.V43V	PPP2R4_ENST00000435305.1_Silent_p.V43V|PPP2R4_ENST00000337738.1_Intron|PPP2R4_ENST00000419582.1_Intron|PPP2R4_ENST00000414510.1_Intron|PPP2R4_ENST00000434095.1_Intron|PPP2R4_ENST00000432124.1_Intron|PPP2R4_ENST00000452489.2_Intron|PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000432651.1_Intron|PPP2R4_ENST00000435132.1_Intron|PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000423100.1_Intron|PPP2R4_ENST00000436883.1_Intron|PPP2R4_ENST00000348141.5_Intron|PPP2R4_ENST00000358994.4_Intron|PPP2R4_ENST00000393370.2_Intron|PPP2R4_ENST00000347048.4_Intron			Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	340					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GCTGGCCAGTGTGCCCGTCCC	0.602000													4	15					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128394410	128394410	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr2:128394410G>C	ENST00000389524.4	+	46	6227	c.6174G>C	c.(6172-6174)tgG>tgC	p.W2058C	MYO7B_ENST00000409090.1_Missense_Mutation_p.W910C|MYO7B_ENST00000428314.1_Missense_Mutation_p.W2057C|MYO7B_ENST00000409816.2_Missense_Mutation_p.W2057C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2057	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.W2301C(1)|p.W2057C(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTCCAGCTGGAGCAGCGGCA	0.657000													17	43					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365562	36365562	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:36365562C>G	ENST00000221891.4	+	9	1405	c.1213C>G	c.(1213-1215)Cag>Gag	p.Q405E	APLP1_ENST00000537454.2_Missense_Mutation_p.Q366E|APLP1_ENST00000586861.1_Missense_Mutation_p.Q399E|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	405					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGATCCGCCTCAGGTGCGGGG	0.682000													22	50					0	0	1	0	0
MIR409	574413	broad.mit.edu	37	14	101531679	101531679	+	RNA	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:101531679C>A	ENST00000362237.1	+	0	43					NR_029975.1																						TGCATCTGGACGACGAATGTT	0.587000													22	33					9.57634e-11	1.02036e-10	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71039096	71039096	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:71039096G>C	ENST00000452400.2	-	19	4049	c.3868C>G	c.(3868-3870)Cgg>Ggg	p.R1290G	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378G	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGGGAATCCGAGGGTTGCTC	0.502000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								8	16					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468462	74468462	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:74468462C>T	ENST00000249842.3	+	2	1620	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	ISLR_ENST00000395118.1_Silent_p.L421L|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	421					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCTCCTCCTCTTCTTCTTCC	0.637000													8	20					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476730	140476730	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:140476730G>A	ENST00000194155.4	+	1	2504	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		786					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.453000													26	39					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718308	101718308	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr15:101718308A>G	ENST00000254190.3	-	3	2169	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	565					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACGAGCTTGACGTTCTGATT	0.423000													14	28					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732170	157732170	+	Splice_Site	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:157732170C>T	ENST00000502773.1	-	3	805		c.e3-1		PDGFC_ENST00000542208.1_Splice_Site|PDGFC_ENST00000541126.1_Splice_Site|PDGFC_ENST00000422544.2_Splice_Site	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C						central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAAATCATACCTGCAAAAAGA	0.408000													14	25					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60906296	60906296	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:60906296C>G	ENST00000301765.5	-	2	238	c.6G>C	c.(4-6)gaG>gaC	p.E2D		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	2					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCTTCAGCGTCTCCATCCTTC	0.542000													13	14					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394285	17394285	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:17394285C>G	ENST00000394458.3	+	5	988	c.712C>G	c.(712-714)Ccc>Gcc	p.P238A	ANKLE1_ENST00000433424.2_Missense_Mutation_p.P292A|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P260A|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P227A|ANKLE1_ENST00000598347.1_Missense_Mutation_p.P238A	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	238						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTCGGACACTCCCCCCTGGGC	0.627000													29	41					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914469	94914469	+	Splice_Site	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr14:94914469C>G	ENST00000334708.3	-	2	707	c.643G>C	c.(643-645)Gcc>Ccc	p.A215P	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAAGCCTCACCTTTGAAGAAG	0.478000													35	48					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950695	38950695	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:38950695G>T	ENST00000357387.3	-	31	3285	c.3255C>A	c.(3253-3255)ttC>ttA	p.F1085L	RICTOR_ENST00000296782.5_Missense_Mutation_p.F1085L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1085					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAAGAAAGGGAATGAATTTT	0.373000													18	80					0.006122	0.00619821	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870245	140870245	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:140870245G>C	ENST00000252087.1	+	1	1438	c.1438G>C	c.(1438-1440)Gat>Cat	p.D480H	PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCCTCAGATCCAGACAC	0.542000													53	62					0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105385495	105385495	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:105385495G>C	ENST00000552951.1	+	3	251	c.208G>C	c.(208-210)Gac>Cac	p.D70H	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	70										large_intestine(1)|lung(2)	3						CACAGTATTGGACCAGGTACA	0.368000													8	32					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278925	36278925	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr19:36278925C>G	ENST00000007510.4	+	21	3602	c.3458C>G	c.(3457-3459)tCa>tGa	p.S1153*	ARHGAP33_ENST00000314737.5_Nonsense_Mutation_p.S992*|ARHGAP33_ENST00000378944.5_Nonsense_Mutation_p.S989*			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1153					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTTGGCTACTCAGCCCCCCAG	0.672000													18	29					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47092358	47092358	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chrX:47092358C>T	ENST00000218348.3	+	1	45	c.45C>T	c.(43-45)ttC>ttT	p.F15F	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	15					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCTTCCGTTTCCGGGACCAGA	0.602000													19	26					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9430103	9430103	+	Silent	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:9430103C>G	ENST00000379719.3	+	3	379	c.237C>G	c.(235-237)tcC>tcG	p.S79S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	79	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGGATATATCCCCTTATACTA	0.348000													4	58					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211163	37211163	+	Missense_Mutation	SNP	C	C	G	rs137928260		TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr22:37211163C>G	ENST00000216200.5	-	3	233	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	PVALB_ENST00000417718.2_Missense_Mutation_p.E60Q|PVALB_ENST00000404171.1_Missense_Mutation_p.E28Q	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	60	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCATCCTCCTCGATGAAGCCA	0.557000													13	5					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776837	40776837	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr4:40776837C>G	ENST00000381782.2	+	6	1190	c.695C>G	c.(694-696)tCt>tGt	p.S232C	NSUN7_ENST00000316607.5_Missense_Mutation_p.S232C|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAAGTCAAATCTGTATTGCAT	0.259000													34	46					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37183086	37183086	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:37183086G>C	ENST00000274258.7	-	26	5427	c.1840C>G	c.(1840-1842)Ctt>Gtt	p.L614V	C5orf42_ENST00000508244.1_Missense_Mutation_p.L1733V|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1733V			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1733										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTAAAGGAAGATCTTCTTGA	0.373000													24	39					0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996545	21996545	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:21996545C>T	ENST00000306306.3	-	6	915	c.447G>A	c.(445-447)cgG>cgA	p.R149R	REEP4_ENST00000523293.1_Silent_p.R149R|REEP4_ENST00000334530.5_Intron	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	149				R -> Q (in Ref. 3; AAG17256).		integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGGAGAAGCTCCGCAGCCTGC	0.667000													8	3					0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944993	31944993	+	Silent	SNP	C	C	T			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:31944993C>T	ENST00000340398.3	-	1	182	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	36					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GATGAGGCTTCACCCCGCAGG	0.602000										HNSCC(67;0.2)			18	48					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287141	43287141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr22:43287141C>A	ENST00000263246.3	-	4	466	c.265G>T	c.(265-267)Gag>Tag	p.E89*	PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.E89*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.E89*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.E89*|PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.E89*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	89					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTCTCTGCCTCGGACATGAAG	0.602000													10	25					1.58986e-06	1.65781e-06	1	1	0
ZHX1	11244	broad.mit.edu	37	8	124266499	124266499	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr8:124266499G>A	ENST00000395571.3	-	3	2305	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.P563L|ZHX1_ENST00000522655.1_Missense_Mutation_p.P563L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	563	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCAGGAAAAGGATTCCAGGA	0.433000													55	117					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44385138	44385138	+	Splice_Site	SNP	G	G	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr22:44385138G>A	ENST00000350028.4	+	13	1379		c.e13+1		SAMM50_ENST00000396202.3_Splice_Site	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCAACTATGGTAAAACTTGC	0.413000													17	22					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122725695	122725697	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr5:122725695_122725697delGGT	ENST00000306467.5	-	8	1480_1482	c.1176_1178delACC	c.(1174-1179)tcacct>tct	p.P394del	CEP120_ENST00000306481.6_In_Frame_Del_p.P368del|CEP120_ENST00000328236.5_In_Frame_Del_p.P394del			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	394						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGTTGGAGGTGACTGGTTGT	0.399													25	31	---	---	---	---					
SPATA31D5P	347127	broad.mit.edu	37	9	84532225	84532225	+	RNA	DEL	C	C	-			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr9:84532225delC	ENST00000527857.1	+	0	2247					NR_026851.1																						TTAAATATCTCTTTGGTTGAG	0.463													11	36	---	---	---	---					
UTF1	8433	broad.mit.edu	37	10	135044194	135044195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr10:135044194_135044195insA	ENST00000304477.2	+	1	417_418	c.402_403insA	c.(403-405)cccfs	p.P135fs		NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN	undifferentiated embryonic cell transcription factor 1	135	Pro-rich.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AGCCGCCCGGGCCCTTCGACGA	0.743													2	4	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997583	63997584	+	RNA	INS	-	-	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr11:63997583_63997584insC	ENST00000534988.1	-	0	99																											AAAAAAAAAAACCCGCCCAGCC	0.530													3	5	---	---	---	---					
SSPN	8082	broad.mit.edu	37	12	26348871	26348871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr12:26348871delG	ENST00000242729.2	+	1	443	c.266delG	c.(265-267)tggfs	p.W89fs	SSPN_ENST00000540266.1_Intron|SSPN_ENST00000422622.2_Intron|SSPN_ENST00000535504.1_Frame_Shift_Del_p.W89fs	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	89					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					ACTCCATTTTGGGCTGGGATC	0.572													2	4	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													7	248	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44913143	44913144	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GU-AATQ-01A-11D-A391-08	TCGA-GU-AATQ-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf6494e6-88db-4c11-b9df-52248c5fa53e	83647962-0bd8-464b-98ca-5121a805768f	g.chrX:44913143_44913144insC	ENST00000377967.4	+	10	859_860	c.818_819insC	c.(817-822)ctccaafs	p.Q274fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.Q274fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	274					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTCAGTATCTCCAAAAGTCCT	0.396			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								61	22	---	---	---	---