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
THADA	63892	broad.mit.edu	37	2	43458261	43458261	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:43458261C>T	ENST00000405006.4	-	38	6039	c.5688G>A	c.(5686-5688)gtG>gtA	p.V1896V	THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Silent_p.V1896V|THADA_ENST00000415080.2_Silent_p.V1577V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1896							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCACTGTCTTCACAAACTCAG	0.517000													5	13					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458670	90458670	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:90458670C>A	ENST00000603238.1	+	2	346	c.346C>A	c.(346-348)Cc>Ac	p.*116del																								CAGTACCCCTCCCACAGCGTT	0.517000													7	431					0.00198382	0.00203105	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73494276	73494276	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:73494276C>T	ENST00000314256.7	+	28	3904	c.3510C>T	c.(3508-3510)ctC>ctT	p.L1170L	KIAA0195_ENST00000375248.5_Silent_p.L1180L|KIAA0195_ENST00000579208.1_Silent_p.L821L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1170					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTTCCTGCTCTGCTTCCTGC	0.602000													9	67					0	0	1	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586183	38586183	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:38586183C>T	ENST00000399703.5	-	12	2618	c.2244G>A	c.(2242-2244)caG>caA	p.Q748Q		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	748										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						AAATTACCTTCTGTTTTAGCT	0.308000													4	9					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713924	183713924	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:183713924G>C	ENST00000511685.1	+	26	6222	c.6099G>C	c.(6097-6099)gtG>gtC	p.V2033V	TENM3_ENST00000406950.2_Silent_p.V2033V					teneurin transmembrane protein 3																		TGCAGGGTGTGATCAATGAAA	0.393000													10	84					0	0	1	0	0
FAM219B	57184	broad.mit.edu	37	15	75195073	75195073	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr15:75195073C>G	ENST00000357635.5	-	5	804	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	FAM219B_ENST00000563119.1_Missense_Mutation_p.E162Q|FAM219B_ENST00000563706.1_5'UTR|FAM219B_ENST00000565772.1_Missense_Mutation_p.E76Q	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN	family with sequence similarity 219, member B	162							cytochrome-c oxidase activity										TCTGGAATCTCATCCAGGTGA	0.547000													5	69					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502263	95502263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr8:95502263G>A	ENST00000297591.5	-	23	5263	c.5188C>T	c.(5188-5190)Cag>Tag	p.Q1730*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1730					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGAGTATTCTGAGCACTCCAA	0.438000													23	50					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20424521	20424521	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:20424521C>G	ENST00000331079.6	+	8	979	c.762C>G	c.(760-762)ttC>ttG	p.F254L	PRMT3_ENST00000437750.2_Missense_Mutation_p.F192L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	254							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CACATATCTTCAAAGACAAGG	0.368000													3	46					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100185846	100185846	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr15:100185846C>T	ENST00000354410.5	+	4	764	c.135C>T	c.(133-135)ctC>ctT	p.L45L	MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000453228.2_Silent_p.L45L|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Silent_p.L45L|MEF2A_ENST00000338042.6_Silent_p.L45L|MEF2A_ENST00000557942.1_Silent_p.L45L	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	45	MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAATAGCACTCATCATTTTCA	0.333000													7	47					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2587859	2587859	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr18:2587859G>C	ENST00000261597.4	+	8	882	c.700G>C	c.(700-702)Gag>Cag	p.E234Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	234	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAAATGCTATGAGAGTTTTAT	0.393000													47	82					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984655	33984655	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:33984655G>A	ENST00000262325.7	+	14	2387	c.1834G>A	c.(1834-1836)Gca>Aca	p.A612T	AP2B1_ENST00000537622.2_Missense_Mutation_p.A612T|AP2B1_ENST00000589344.1_Missense_Mutation_p.A612T|AP2B1_ENST00000592545.1_Missense_Mutation_p.A574T|AP2B1_ENST00000312678.8_Missense_Mutation_p.A612T|AP2B1_ENST00000538556.1_Missense_Mutation_p.A555T|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	612	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACTACCACTGCAACGAACCT	0.473000													3	47					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92624050	92624050	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr14:92624050C>T	ENST00000298875.4	+	13	1928	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	548					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GATGGGGATTCCATTAAAAAA	0.408000													8	23					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155288465	155288465	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:155288465C>G	ENST00000356657.6	+	7	856	c.694C>G	c.(694-696)Cag>Gag	p.Q232E	RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.Q232E|FDPS_ENST00000447866.1_Missense_Mutation_p.Q166E|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	232					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GAGTTCCTATCAGACTGAGAT	0.537000													6	28					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43592647	43592647	+	Silent	SNP	G	G	A	rs139289282		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:43592647G>A	ENST00000307126.5	-	6	857	c.858C>T	c.(856-858)ctC>ctT	p.L286L	GTPBP2_ENST00000307114.7_Silent_p.L198L|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	286							GTP binding|GTPase activity	p.L286L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGGCACTGACGAGGAGCAGGG	0.577000													12	143					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582146	128582146	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:128582146C>T	ENST00000402030.2	+	2	83	c.11C>T	c.(10-12)tCc>tTc	p.S4F	IRF5_ENST00000357234.5_Missense_Mutation_p.S4F|IRF5_ENST00000477535.1_Missense_Mutation_p.S4F|IRF5_ENST00000473745.1_Missense_Mutation_p.S4F|IRF5_ENST00000249375.4_Missense_Mutation_p.S4F	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	4					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ATGAACCAGTCCATCCCAGTG	0.637000													4	53					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22887148	22887148	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr8:22887148C>T	ENST00000276431.4	-	4	735	c.451G>A	c.(451-453)Gag>Aag	p.E151K	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E151K|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	151					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CGGCACATCTCAGGAGAATCT	0.577000													4	35					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783148	110783148	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:110783148C>G	ENST00000395494.2	+	17	3184	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S901C|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S901C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	901					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGCGCTCTCTGTTCTAGTA	0.507000													13	79					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99371507	99371507	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr13:99371507G>C	ENST00000376503.5	-	8	679	c.624C>G	c.(622-624)ctC>ctG	p.L208L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	208					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CTACAGCCATGAGAGCAGCAG	0.428000													9	42					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87902825	87902825	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:87902825G>C	ENST00000261622.4	-	1	269	c.204C>G	c.(202-204)atC>atG	p.I68M		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	68					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GCGTCACGAAGATGCCCGAGC	0.711000													21	81					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38982013	38982013	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:38982013G>A	ENST00000357387.3	-	8	739	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	RICTOR_ENST00000296782.5_Missense_Mutation_p.H237Y	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	237					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)					GTCTTTGGATGATTAAGAAGG	0.328000													32	96					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498407	106498407	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:106498407G>C	ENST00000233154.4	+	4	1292	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.E284Q|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	284					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CGCGGGCAGAGAGTGGTACTA	0.682000													8	33					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73494288	73494288	+	Silent	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:73494288C>G	ENST00000314256.7	+	28	3916	c.3522C>G	c.(3520-3522)ctC>ctG	p.L1174L	KIAA0195_ENST00000375248.5_Silent_p.L1184L|KIAA0195_ENST00000579208.1_Silent_p.L825L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1174					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCCTGCTCAAGTTCAGCC	0.607000													7	64					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796178	39796178	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr14:39796178C>G	ENST00000553728.1	+	24	3601	c.3388C>G	c.(3388-3390)Ctg>Gtg	p.L1130V	CTAGE5_ENST00000341749.3_Missense_Mutation_p.L583V|CTAGE5_ENST00000396158.2_Missense_Mutation_p.L600V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.L520V|CTAGE5_ENST00000553352.1_Missense_Mutation_p.L566V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.L515V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.L566V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.L595V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.L552V|CTAGE5_ENST00000280083.3_Missense_Mutation_p.L595V|CTAGE5_ENST00000396165.4_Missense_Mutation_p.L566V																							CACTGGGTCTCTGTCACCTCC	0.488000													7	38					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675246	1675246	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:1675246C>T	ENST00000254722.4	+	5	683	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	174					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGGCAACCCTCGCTTGGACCT	0.547000													6	17					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37247008	37247008	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:37247008G>C	ENST00000233099.5	-	26	4143	c.4048C>G	c.(4048-4050)Cta>Gta	p.L1350V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1350V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1350							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCTGGTCTTAGAGCAGCTCCC	0.373000													6	48					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127644206	127644206	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:127644206C>T	ENST00000373555.4	-	21	2326	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	665						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCCCGGACTTCGAAGAGCTCA	0.502000													12	34					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33853577	33853577	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:33853577A>T	ENST00000307296.3	+	2	600	c.223A>T	c.(223-225)Att>Ttt	p.I75F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I75F|PDCD6IP_ENST00000498147.1_3'UTR			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	75	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTATGATCAGATTTGTTCTAT	0.274000													15	47					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84859386	84859386	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:84859386G>C	ENST00000403245.3	-	24	3780	c.3666C>G	c.(3664-3666)ctC>ctG	p.L1222L	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.L1146L	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1222					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAGATGCTTTGAGGGATGCAA	0.388000													7	39					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349594	243349594	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:243349594G>C	ENST00000366542.1	-	9	1290	c.1239C>G	c.(1237-1239)gtC>gtG	p.V413V	CEP170_ENST00000366544.1_Silent_p.V413V|CEP170_ENST00000366543.1_Silent_p.V413V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	413						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGTAGCCTGGACCTTCTGTA	0.438000													8	143					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681684	142681684	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:142681684G>C	ENST00000340634.3	-	1	494	c.495C>G	c.(493-495)ggC>ggG	p.G165G		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	165						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCTGCCGAAGCCGTAGTAGC	0.622000													5	19					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460877	130460877	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:130460877G>A	ENST00000529410.1	+	25	2801	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K	RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368136.2_Silent_p.K774K|L3MBTL3_ENST00000526019.1_Silent_p.K749K|L3MBTL3_ENST00000368139.2_Silent_p.K749K|RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000533560.1_Silent_p.K749K|L3MBTL3_ENST00000361794.2_Silent_p.K774K			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	774					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGCAGAGAAGAATTCTCACA	0.358000													9	22					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363715	72363715	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:72363715C>T	ENST00000335666.4	+	1	119	c.71C>T	c.(70-72)gCt>gTt	p.A24V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	24						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GACATCACTGCTGTCCTGGGT	0.498000													11	44					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57017102	57017102	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:57017102C>T	ENST00000370706.4	+	12	3080	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R898C|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R946C|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCTTCATCCTCGCTGTAGTAA	0.368000													13	64					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040658	102040658	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:102040658C>T	ENST00000549145.1	+	12	1147	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	MYBPC1_ENST00000441232.1_Silent_p.F336F|MYBPC1_ENST00000361685.2_Silent_p.F361F|MYBPC1_ENST00000547405.1_Silent_p.F310F|MYBPC1_ENST00000360610.2_Silent_p.F336F|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Silent_p.F336F|MYBPC1_ENST00000547509.1_Silent_p.F322F|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000550270.1_Silent_p.F336F|MYBPC1_ENST00000541119.1_Silent_p.F324F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.F237F|MYBPC1_ENST00000392934.3_Silent_p.F323F|MYBPC1_ENST00000536007.1_Silent_p.F317F|MYBPC1_ENST00000545503.2_Silent_p.F336F|MYBPC1_ENST00000361466.2_Silent_p.F361F|MYBPC1_ENST00000452455.2_Silent_p.F336F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	336	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGAGCTCTTCGTAAGAGGTA	0.418000													5	66					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217540	32217540	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:32217540G>A	ENST00000400246.1	+	23	2065	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	DEPDC5_ENST00000382112.3_Silent_p.A641A|DEPDC5_ENST00000400248.2_Silent_p.A641A|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Silent_p.A641A|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Silent_p.A641A|DEPDC5_ENST00000400249.2_Silent_p.A641A			O75140	DEPD5_HUMAN	DEP domain containing 5	641			A -> V (in dbSNP:rs16989528).		intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAATATGGCGGAGCTACAAG	0.547000													13	54					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225598004	225598004	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:225598004G>A	ENST00000338179.2	-	10	1428	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	LBR_ENST00000272163.4_Missense_Mutation_p.L435F	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	435					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TCATTCCAGAGAGCATCCACC	0.468000													19	63					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79589209	79589209	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:79589209G>C	ENST00000374747.5	-	3	321	c.192C>G	c.(190-192)ctC>ctG	p.L64L	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000331134.6_Silent_p.L64L			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	64					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTAGCAAGTTGAGGGATTTGT	0.463000													17	54					0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75201625	75201625	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr14:75201625C>G	ENST00000341162.4	+	8	643	c.589C>G	c.(589-591)Cga>Gga	p.R197G	FCF1_ENST00000534938.2_Missense_Mutation_p.R185G|FCF1_ENST00000553615.1_Missense_Mutation_p.R182G	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	197					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TGGAGCCCCTCGATTCTAATT	0.403000													24	128					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	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)			13	25					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455893	234455893	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:234455893G>C	ENST00000366618.3	+	7	1342	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	SLC35F3_ENST00000366617.3_Silent_p.L330L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	330					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ATCCCACTCTGATGTCTCTTG	0.393000													10	68					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152594042	152594042	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:152594042C>G	ENST00000263985.6	-	12	1457	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Missense_Mutation_p.E432Q	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	473						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAGTTCCTCAAACACCTAT	0.542000													14	40					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857471	153857471	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:153857471G>C	ENST00000231121.2	-	1	353	c.98C>G	c.(97-99)tCg>tGg	p.S33W		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	33					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ATGACAGCGCGAGGCCGGACC	0.687000													4	55					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	41					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091452	31091452	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:31091452G>A	ENST00000332585.6	+	1	660	c.556G>A	c.(556-558)Gag>Aag	p.E186K	OSBP2_ENST00000446658.2_Missense_Mutation_p.E186K|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.E186K	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	186	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGACAGCTTCGAGGGCTGGCT	0.592000													4	73					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632589	30632589	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:30632589G>T	ENST00000376442.3	-	7	1501	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	436	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCCTCAAAGAGATACTGCGGG	0.498000													5	25					1.23904e-05	1.31013e-05	1	1	0
MAVS	57506	broad.mit.edu	37	20	3838310	3838310	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr20:3838310C>T	ENST00000428216.2	+	3	274	c.146C>T	c.(145-147)tCa>tTa	p.S49L	MAVS_ENST00000358134.6_Missense_Mutation_p.S49L|MAVS_ENST00000416600.2_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	49	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCACACTCTCAGGGAACCGG	0.612000													5	57					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105821265	105821265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:105821265G>A	ENST00000369110.3	-	5	766	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	192					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCATCCTGTTGAGGGTATGAG	0.438000													10	55					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	861005	861005	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:861005G>A	ENST00000316157.3	-	15	1741	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	567							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CGTCTGCACTGAGGGTCTGAA	0.592000													6	28					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107415703	107415703	+	Silent	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:107415703C>G	ENST00000394872.2	-	32	3432	c.3201G>C	c.(3199-3201)ctG>ctC	p.L1067L	COL4A6_ENST00000545689.1_Silent_p.L1066L|COL4A6_ENST00000334504.7_Silent_p.L1066L|COL4A6_ENST00000538570.1_Silent_p.L1066L|COL4A6_ENST00000372216.4_Silent_p.L1067L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1067	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTACCTTTCAGGCCTGGGA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				3	48					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472552	25472552	+	Missense_Mutation	SNP	G	G	A	rs151168784		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:25472552G>A	ENST00000380746.4	-	2	159	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C	DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000402667.1_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	56					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGGCTACGATCCACGCGC	0.478000			"""Mis, F, N, S"""		AML								11	56					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3490894	3490894	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:3490894G>C	ENST00000301744.4	-	3	308	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CACTCCTCTTGAGAAAAATAC	0.507000													8	63					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202173901	202173901	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:202173901C>T	ENST00000405148.2	-	10	1191	c.748G>A	c.(748-750)Gag>Aag	p.E250K	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E250K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E250K|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E250K	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	250					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTTTCTCGCTCGAACTTCTCA	0.408000													7	79					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656182	69656182	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:69656182G>C	ENST00000435070.2	+	9	1609	c.1499G>C	c.(1498-1500)aGt>aCt	p.S500T	CPSF6_ENST00000456847.3_Missense_Mutation_p.S427T|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.S537T	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	500	Arg-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGGACCATAGTAGATCACGA	0.398000													10	35					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89268278	89268278	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:89268278G>A	ENST00000371996.4	+	2	864	c.823G>A	c.(823-825)Gat>Aat	p.D275N	MINPP1_ENST00000371994.4_Missense_Mutation_p.D275N|MINPP1_ENST00000536010.1_Missense_Mutation_p.D74N	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	275					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCAGTAAATGATTTAAATGC	0.313000													12	27					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196230038	196230038	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:196230038G>C	ENST00000318037.3	-	1	601	c.7C>G	c.(7-9)Cta>Gta	p.L3V		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	3					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TCTTTGGGTAGAGCCATTTCA	0.517000													9	37					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647000													5	114					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817119	22817119	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:22817119G>C	ENST00000404138.1	+	3	1189	c.678G>C	c.(676-678)aaG>aaC	p.K226N	ZBTB40_ENST00000375647.4_Missense_Mutation_p.K226N|ZBTB40_ENST00000374651.4_Missense_Mutation_p.K226N	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	226					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGAGGCAAAGAAGACAAGCA	0.423000													4	49					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030481	79030481	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:79030481C>T	ENST00000446378.2	+	2	5924	c.5893C>T	c.(5893-5895)Ctt>Ttt	p.L1965F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1965						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTATCTGCTCTTGATACTTC	0.428000													4	45					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148852690	148852690	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:148852690C>G	ENST00000367467.3	+	13	1932	c.1457C>G	c.(1456-1458)tCc>tGc	p.S486C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	486							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGCCTGGCTCCCCTCCGCCT	0.542000													8	47					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55798410	55798410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:55798410C>T	ENST00000309383.1	+	2	449	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BRSK1_ENST00000585418.1_Nonsense_Mutation_p.Q58*|BRSK1_ENST00000590333.1_Nonsense_Mutation_p.Q74*	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	58	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATCACGGGTCAGAAGGTCGC	0.637000													10	43					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261962	21261962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:21261962G>T	ENST00000311620.5	+	2	1148	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	359	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCACCTGGAAGAATTCCTGCC	0.522000													3	33					0.00024832	0.000259379	1	1	0
UIMC1	51720	broad.mit.edu	37	5	176335533	176335533	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:176335533C>T	ENST00000377219.2	-	12	2008	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	UIMC1_ENST00000506128.1_Silent_p.K447K|UIMC1_ENST00000511320.1_Silent_p.K613K|UIMC1_ENST00000377227.4_Silent_p.K613K	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	613					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTTGGGTTCTTCAGCCTCT	0.517000													5	72					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189688676	189688676	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:189688676G>C	ENST00000319332.5	-	13	2019	c.1822C>G	c.(1822-1824)Ctc>Gtc	p.L608V	LEPREL1_ENST00000427335.2_Missense_Mutation_p.L427V	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	608	Fe2OG dioxygenase.				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)	ATATATAGGAGAGCACTATAA	0.348000													5	29					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	860754	860754	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:860754G>A	ENST00000316157.3	-	16	1897	c.1857C>T	c.(1855-1857)caC>caT	p.H619H	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	619							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGTCCACACTGTGGGTTTCCC	0.547000													3	8					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123689034	123689034	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:123689034C>G	ENST00000184183.4	-	6	767	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	ROPN1_ENST00000405845.3_Missense_Mutation_p.E143Q	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	143					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATAAGACCTCACACACTATC	0.428000													17	85					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28838198	28838198	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:28838198C>T	ENST00000336783.4	+	6	799	c.632C>T	c.(631-633)tCa>tTa	p.S211L	ATXN2L_ENST00000395547.2_Missense_Mutation_p.S211L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S211L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S211L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S211L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S211L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S211L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	211						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTCACCGATTCAGCCATTGCC	0.522000													3	30					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38469021	38469021	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:38469021G>C	ENST00000404072.3	+	10	1052	c.705G>C	c.(703-705)ctG>ctC	p.L235L	PICK1_ENST00000356976.3_Silent_p.L235L|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	235	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGACGGATCTGAACACGTACC	0.562000													3	54					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881431	108881431	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:108881431G>A	ENST00000329106.2	+	6	772	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	258						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CAGCATTATGGACCACTCCAT	0.408000													4	55					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51561871	51561871	+	Missense_Mutation	SNP	C	C	T	rs142773664		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:51561871C>T	ENST00000595793.1	-	4	611	c.569G>A	c.(568-570)cGt>cAt	p.R190H	KLK13_ENST00000335422.3_Missense_Mutation_p.R38H|KLK13_ENST00000595547.1_Missense_Mutation_p.R117H	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	190	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.R190H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GTAGACTTGACGACACTCCTC	0.522000													23	89					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													19	43					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671335	79671335	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:79671335G>C	ENST00000571730.1	+	2	267	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	SLC25A10_ENST00000541223.1_Missense_Mutation_p.E46Q|MRPL12_ENST00000333676.3_Missense_Mutation_p.E46Q			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TCAGAGGTGTGAGGCCCTCGC	0.592000													11	24					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193332698	193332698	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:193332698G>A	ENST00000361510.2	+	2	453	c.219G>A	c.(217-219)ctG>ctA	p.L73L	OPA1_ENST00000392438.3_Silent_p.L73L|OPA1_ENST00000361715.2_Silent_p.L73L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Silent_p.L73L|OPA1_ENST00000361150.2_Silent_p.L73L|OPA1_ENST00000361908.3_Silent_p.L73L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	73					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TACGTAAACTGAAATTCTCTC	0.398000													5	22					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412014	77412014	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:77412014C>G	ENST00000308488.6	-	6	2562	c.2260G>C	c.(2260-2262)Gaa>Caa	p.E754Q	RSF1_ENST00000480887.1_Missense_Mutation_p.E502Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E723Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	754					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTGGTTCTAGAACTTTG	0.403000													28	130					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808781	74808781	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:74808781G>A	ENST00000370895.1	+	11	1188	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	TNNI3K_ENST00000370891.2_Missense_Mutation_p.E385K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E385K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E284K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E398K|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		284						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGGCAAATTTGAAGTTGCCAA	0.343000													4	39					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807528	2807528	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:2807528G>A	ENST00000301740.8	+	3	847	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	100						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATGTTGCTGGAGAAGGATGT	0.547000													8	43					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756483	137756483	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:137756483G>A	ENST00000314358.5	+	15	4004	c.3804G>A	c.(3802-3804)ccG>ccA	p.P1268P	KDM3B_ENST00000542866.1_Silent_p.P300P|KDM3B_ENST00000394866.1_Silent_p.P924P	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGTCTCTCCGCTGACTCCAA	0.532000													10	62					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127779431	127779431	+	Silent	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:127779431C>G	ENST00000243253.3	+	7	727	c.543C>G	c.(541-543)ctC>ctG	p.L181L	SEC61A1_ENST00000424880.2_Silent_p.L61L|SEC61A1_ENST00000464451.1_Silent_p.L187L	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	181					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTATTTCTCTCTTCATTGCAA	0.463000													14	83					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92573783	92573783	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:92573783C>A	ENST00000298047.6	+	17	10441	c.10424C>A	c.(10423-10425)tCc>tAc	p.S3475Y	FAT3_ENST00000525166.1_Missense_Mutation_p.S3325Y|FAT3_ENST00000409404.2_Missense_Mutation_p.S3475Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3475	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGAGACTCCTTTCACAAT	0.448000										TCGA Ovarian(4;0.039)			3	19					0.115264	0.11662	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121416264	121416264	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:121416264C>G	ENST00000393667.3	-	13	3216	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1031Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1031					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)		CTCTCAGTCTCACTGAGTGGG	0.348000													9	48					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	63					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210981	59210981	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:59210981G>A	ENST00000302030.2	+	1	365	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGGTCTGTCTGAGTGCCTCCT	0.527000													33	122					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396939	71396939	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:71396939G>A	ENST00000339336.4	+	8	671	c.541G>A	c.(541-543)Gac>Aac	p.D181N	AMTN_ENST00000504451.1_Missense_Mutation_p.D180N	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	181					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CACAGATGACGACTTTGCAGT	0.567000													3	20					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133473	66133473	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:66133473G>C	ENST00000357440.2	-	10	1221	c.993C>G	c.(991-993)atC>atG	p.I331M	SLC29A2_ENST00000546034.1_Missense_Mutation_p.I331M|SLC29A2_ENST00000311161.7_Missense_Mutation_p.L287V|SLC29A2_ENST00000544554.1_Missense_Mutation_p.I331M	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	331					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAAGCAGCAGATGGGGTTGA	0.582000													3	23					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42874353	42874353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:42874353G>A	ENST00000334370.4	+	38	7281	c.6646G>A	c.(6646-6648)Gag>Aag	p.E2216K	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Missense_Mutation_p.E2283K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2283	EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCCACTGTGAGCAGTGCCT	0.622000													6	37					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005886	30005886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:30005886C>A	ENST00000279392.3	-	4	1410	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	194	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCACTTTCTTCCCTGGCCTGC	0.517000													14	155					0.000422831	0.000439881	1	1	0
DNTT	1791	broad.mit.edu	37	10	98078233	98078233	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:98078233T>C	ENST00000419175.1	+	2	498	c.328T>C	c.(328-330)Tgc>Cgc	p.C110R	DNTT_ENST00000371174.2_Missense_Mutation_p.C110R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	110	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GCTGATCGAATGCATAAGAGC	0.468000													7	66					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193840	139193840	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:139193840C>G	ENST00000274710.3	+	4	1112	c.907C>G	c.(907-909)Ctg>Gtg	p.L303V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	303	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACCCTCTGGCCAACGG	0.637000													9	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:7579406G>C	ENST00000420246.2	-	4	413	c.281C>G	c.(280-282)tCa>tGa	p.S94*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S94*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACAGAAGATGACAGGGGCCA	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237875071	237875071	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:237875071C>T	ENST00000366574.2	+	71	10574	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.F3403F|RYR2_ENST00000360064.6_Silent_p.F3417F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3419					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAACTTCGTTGTACAGA	0.323000													4	15					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170007520	170007520	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:170007520C>G	ENST00000263816.3	-	68	12763	c.12478G>C	c.(12478-12480)Gat>Cat	p.D4160H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4160					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCTTGACATCTGACCAGTAA	0.423000													12	90					0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149763001	149763001	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:149763001G>A	ENST00000369168.4	+	6	1107	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	351					interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGAAGAGCTGAAATGTCAGG	0.478000													8	34					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	232144702	232144702	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:232144702C>T	ENST00000439617.2	+	11	2267	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000366637.3_Silent_p.S70S	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	738	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCCACTCCGAGGATAAAA	0.532000													5	19					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1826168	1826168	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:1826168G>C	ENST00000307394.7	+	8	1264	c.1264G>C	c.(1264-1266)Gac>Cac	p.D422H	EME2_ENST00000568449.1_Missense_Mutation_p.D357H			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	357					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GGTGGGGCCTGACCTCTCCCG	0.701000								Direct reversal of damage;Homologous recombination					6	53					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624340	101624340	+	Silent	SNP	G	G	A	rs113291929		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:101624340G>A	ENST00000409318.1	-	20	3541	c.3411C>T	c.(3409-3411)ctC>ctT	p.L1137L	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Silent_p.L1122L|RPL31_ENST00000409650.1_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1122					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAAAAGTTTTGAGATTGTACT	0.393000													9	99					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50152917	50152917	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:50152917G>C	ENST00000347869.3	+	21	2071	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	632	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCTGGTGGAGAGACTTGAGA	0.537000													6	68					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111406862	111406862	+	Missense_Mutation	SNP	C	C	G	rs75095313		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:111406862C>G	ENST00000535254.1	-	18	2303	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	BUB1_ENST00000302759.6_Missense_Mutation_p.E766Q|BUB1_ENST00000409311.1_Missense_Mutation_p.E766Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	766					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATTGCCATTCAAAAGTATTT	0.348000													8	98					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151488	50151488	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:50151488G>C	ENST00000347869.3	+	19	1898	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	575	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAAAGGAGAGAATCTGCTGC	0.423000													4	39					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170322822	170322822	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:170322822C>T	ENST00000439128.2	-	31	4120	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	NEK1_ENST00000510533.1_Silent_p.L1116L|NEK1_ENST00000507142.1_Silent_p.L1188L|NEK1_ENST00000511633.1_Silent_p.L1144L|NEK1_ENST00000512193.1_Silent_p.L1091L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1160					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATTCTTCGTTCAGGGCACTTT	0.413000													14	156					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219129801	219129801	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:219129801G>A	ENST00000248450.4	-	10	1341	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	AAMP_ENST00000444053.1_Missense_Mutation_p.R392C|AAMP_ENST00000420660.1_Missense_Mutation_p.R372C			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	391					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAAGCAGGCGGCCGGTCCGG	0.612000													18	101					0	0	1	0	0
TRGV8	6982	broad.mit.edu	37	7	38370481	38370481	+	RNA	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:38370481C>G	ENST00000390343.2	-	0	55																											AGAAGACCCTCTCAAAACTCA	0.512000													4	28					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81594963	81594963	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:81594963G>C	ENST00000356860.3	-	32	2859	c.2521C>G	c.(2521-2523)Ctg>Gtg	p.L841V	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L853V|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.L53V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	853						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCATCATCCAGAATCACACAA	0.353000													23	75					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36759830	36759830	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:36759830C>T	ENST00000244751.2	-	8	1132	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	170	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGAGCTCCTCAGCGGACAGG	0.572000													3	36					0	0	1	0	0
TSNAX-DISC1	100303453	broad.mit.edu	37	1	231678318	231678318	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:231678318G>T	ENST00000602962.1	+	4	486	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	TSNAX_ENST00000602825.1_3'UTR|TSNAX_ENST00000366639.4_Missense_Mutation_p.G110W																							AGAGCTATCAGGGGAAGATAT	0.368000													5	70					0.217242	0.218088	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4207552	4207552	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:4207552C>G	ENST00000600132.1	+	9	868	c.592C>G	c.(592-594)Cgt>Ggt	p.R198G	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R288G|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R198G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	198										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGACCTGTGCCGTCTCCTACT	0.597000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	76					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209182626	209182626	+	Silent	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:209182626C>G	ENST00000264380.4	+	16	2201	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	681					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGTGGTTGTCAATGGCTTTG	0.353000													10	53					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828975	98828975	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr13:98828975C>T	ENST00000267291.6	-	1	544	c.516G>A	c.(514-516)gcG>gcA	p.A172A	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	172							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGCCCTTCCTCGCCATCCCCG	0.622000													6	43					0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36041852	36041852	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:36041852G>C	ENST00000229795.3	+	6	921	c.474G>C	c.(472-474)gtG>gtC	p.V158V	MAPK14_ENST00000229794.4_Silent_p.V158V|MAPK14_ENST00000468133.1_Silent_p.V81V|MAPK14_ENST00000310795.4_Silent_p.V158V	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	158	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATCTAGCTGTGAATGAAGACT	0.383000													4	57					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748311	46748311	+	Missense_Mutation	SNP	G	G	C	rs121918484		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:46748311G>C	ENST00000311907.5	+	9	1110	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	F2_ENST00000530231.1_Missense_Mutation_p.E352Q	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	352					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.E352K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGACAAAACCGAAAGAGAGCT	0.607000													8	66					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756242	75756242	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr8:75756242G>A	ENST00000260113.2	+	3	479	c.300G>A	c.(298-300)tcG>tcA	p.S100S	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.S100S|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	100						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTGCAAAATCGGCAGAGGCTT	0.418000													12	120					0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83499792	83499792	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr15:83499792G>A	ENST00000286760.4	+	9	2182	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	695						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ATCACCTGCTGAGCGACCACG	0.502000													9	92					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135957439	135957439	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:135957439C>G	ENST00000562646.1	-	7	914	c.760G>C	c.(760-762)Gac>Cac	p.D254H	RBMX_ENST00000565438.1_Missense_Mutation_p.D126H|RBMX_ENST00000320676.7_Missense_Mutation_p.D254H|RBMX_ENST00000431446.3_Missense_Mutation_p.M145I|RBMX_ENST00000570135.1_Missense_Mutation_p.D119H			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	254						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GATGGATAGTCATCACGTGAA	0.398000													20	24					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281252	152281252	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:152281252C>T	ENST00000368799.1	-	3	6145	c.6110G>A	c.(6109-6111)cGa>cAa	p.R2037Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2037	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2037Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTACCCTCGGTGTCCACT	0.557000									Ichthyosis				56	447					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005806	30005806	+	Silent	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:30005806C>A	ENST00000279392.3	-	4	1490	c.660G>T	c.(658-660)ctG>ctT	p.L220L	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	220	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTTCCTTCAGGCTTTTAG	0.498000													7	102					0.00198382	0.00203105	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76450732	76450732	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:76450732G>A	ENST00000389840.5	-	64	10308	c.10184C>T	c.(10183-10185)gCg>gTg	p.A3395V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3404V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCACGTCCGCGTCATCTGT	0.627000													7	25					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55237584	55237584	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:55237584C>T	ENST00000381298.2	-	17	2395	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.E695K|IL6ST_ENST00000502326.3_Missense_Mutation_p.E695K|IL6ST_ENST00000381294.3_Missense_Mutation_p.E634K	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	695					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCTATTTCCACAACACTT	0.323000			O		hepatocellular ca								14	49					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497414	149497414	+	Splice_Site	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:149497414C>G	ENST00000261799.4	-	22	3374		c.e22-1			NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGTACTTCTGCTCCCGGG	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	8					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107751730	107751730	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr8:107751730G>A	ENST00000445937.1	+	12	2262	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	OXR1_ENST00000531443.1_Silent_p.V667V|OXR1_ENST00000449762.2_Silent_p.V37V|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000442977.2_Silent_p.V695V|OXR1_ENST00000517566.2_Silent_p.V694V|OXR1_ENST00000312046.6_Silent_p.V660V|OXR1_ENST00000297447.6_Silent_p.V64V|OXR1_ENST00000452423.2_Intron	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	695					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTGCTACAGTGAAAGCAGACC	0.368000													12	60					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38982074	38982074	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:38982074G>A	ENST00000357387.3	-	8	678	c.648C>T	c.(646-648)atC>atT	p.I216I	RICTOR_ENST00000296782.5_Silent_p.I216I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	216					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)					ATTGGCAATCGATCACATTTT	0.388000													37	118					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29038982	29038982	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:29038982G>A	ENST00000334056.5	+	3	291	c.102G>A	c.(100-102)ctG>ctA	p.L34L	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.L34L	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	34					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCATTACTCTGAAGCGTCCTA	0.383000													6	80					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395549	8395549	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:8395549C>T	ENST00000471889.1	+	6	1881	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S533F|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S499F			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	499					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACGGGCTCCAGCGAGCGC	0.642000													16	35					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551329	165551329	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:165551329G>C	ENST00000375458.2	-	11	2794	c.2573C>G	c.(2572-2574)tCa>tGa	p.S858*	COBLL1_ENST00000194871.6_Nonsense_Mutation_p.S963*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.S896*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.S896*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.S934*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	934										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGGGCATTTGAAGCCCGAGA	0.443000													3	48					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117809	79117809	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:79117809C>T	ENST00000442371.1	+	3	1451	c.512C>T	c.(511-513)tCc>tTc	p.S171F	GCNT1_ENST00000444201.2_Missense_Mutation_p.S171F|GCNT1_ENST00000376730.4_Missense_Mutation_p.S171F|GCNT1_ENST00000536223.1_Missense_Mutation_p.S171F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	171	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGCATCGCTTCCTGTTTTAGT	0.478000													6	62					0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83417331	83417331	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:83417331G>C	ENST00000515780.2	-	6	457	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	TMEM150C_ENST00000508701.1_Missense_Mutation_p.L85V|TMEM150C_ENST00000449862.2_Missense_Mutation_p.L85V|RP11-791G16.2_ENST00000488045.1_RNA			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						ATGAAGCGCAGAACAGCTACC	0.403000													17	55					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	rs61738515	by1000genomes	TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:88534401G>A	ENST00000399271.1	+	4	1183	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I	DSPP_ENST00000282478.7_Missense_Mutation_p.V355I|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	355					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418000													5	33					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718984	140718984	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:140718984G>A	ENST00000394576.2	+	1	446	c.446G>A	c.(445-447)gGa>gAa	p.G149E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACGCCAGGATTCCGGATT	0.463000													4	70					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7654108	7654108	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:7654108G>C	ENST00000299492.4	+	12	1467	c.1079G>C	c.(1078-1080)aGa>aCa	p.R360T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R248T|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R202T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R217T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	360					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCCTCCAAGATGTAGCTCT	0.542000													3	12					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495058	56495058	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:56495058C>T	ENST00000267101.3	+	27	3855	c.3415C>T	c.(3415-3417)Ctg>Ttg	p.L1139L	ERBB3_ENST00000553131.1_Silent_p.L380L|ERBB3_ENST00000450146.2_Silent_p.L496L|ERBB3_ENST00000415288.2_Silent_p.L1080L|ERBB3_ENST00000549832.1_Silent_p.L259L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1139					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGCCACAGTCTGCTGACTCC	0.587000													10	29					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62971480	62971480	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:62971480G>C	ENST00000251157.5	-	36	4490	c.4457C>G	c.(4456-4458)tCt>tGt	p.S1486C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1464C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1495					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCCGTTACAGAAACGGTCTG	0.378000													3	39					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011562	176011562	+	Silent	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:176011562G>T	ENST00000510636.1	+	19	2554	c.2280G>T	c.(2278-2280)ctG>ctT	p.L760L	CDHR2_ENST00000261944.5_Silent_p.L760L|CDHR2_ENST00000506348.1_Silent_p.L760L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	760	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCTCCGGCTGCCCCCGGACG	0.617000													7	65					0.00198382	0.00203105	1	1	0
KLHL41	10324	broad.mit.edu	37	2	170371380	170371380	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:170371380G>A	ENST00000284669.1	+	3	1362	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	BBS5_ENST00000554017.1_Missense_Mutation_p.E367K|KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E367K	NM_006063.2	NP_006054.2			kelch-like family member 41																		AAAATGGAACGAAGTAAAAAA	0.348000													5	40					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857573	113857573	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:113857573C>G	ENST00000504030.2	+	8	1388	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V	HTR3A_ENST00000375498.2_Missense_Mutation_p.L321V|HTR3A_ENST00000535865.1_Missense_Mutation_p.L59V|HTR3A_ENST00000299961.5_Missense_Mutation_p.L300V|HTR3A_ENST00000355556.2_Missense_Mutation_p.L353V|HTR3A_ENST00000506841.2_Missense_Mutation_p.L347V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	315					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGCATGGCTCTGCTGGTGAT	0.592000													5	32					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17606166	17606166	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr20:17606166C>T	ENST00000377813.1	-	12	3348	c.3045G>A	c.(3043-3045)gtG>gtA	p.V1015V	RRBP1_ENST00000377807.2_Silent_p.V582V|RRBP1_ENST00000360807.4_Silent_p.V582V|RRBP1_ENST00000246043.4_Silent_p.V1015V|RRBP1_ENST00000455029.2_Silent_p.V356V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1015					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CATTGTTCTTCACTTTCTGCT	0.642000													4	60					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757877	74757877	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:74757877G>C	ENST00000258080.3	+	2	1270	c.640G>C	c.(640-642)Gac>Cac	p.D214H	HTRA2_ENST00000352222.3_Missense_Mutation_p.D214H|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	214	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTAAGCGGCGACACGTATGA	0.612000													3	42					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052851	177052851	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:177052851G>A	ENST00000393643.2	+	7	1312	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	WDR17_ENST00000280190.4_Missense_Mutation_p.D378N|WDR17_ENST00000508596.1_Missense_Mutation_p.D354N|WDR17_ENST00000507824.2_Missense_Mutation_p.D361N	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	378								p.D378Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGACTTTATGATATGGGAGC	0.383000													53	98					0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52718906	52718906	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr13:52718906G>A	ENST00000452082.2	-	8	2017	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	NEK3_ENST00000339406.3_Missense_Mutation_p.P242S|NEK3_ENST00000400357.2_Missense_Mutation_p.P242S|NEK3_ENST00000378101.2_Missense_Mutation_p.P242S			P51956	NEK3_HUMAN	NIMA-related kinase 3	242	Interaction with VAV2.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CGATGTGAGGGATTCCTTTTA	0.488000													4	14					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495511	56495511	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:56495511C>G	ENST00000267101.3	+	28	4141	c.3701C>G	c.(3700-3702)tCt>tGt	p.S1234C	ERBB3_ENST00000553131.1_Missense_Mutation_p.S475C|ERBB3_ENST00000450146.2_Missense_Mutation_p.S591C|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1175C|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.S354C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1234					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCAGTGCCTCTCTGGGCAGC	0.547000													4	46					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7566637	7566637	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:7566637G>C	ENST00000379802.3	+	8	1308	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	DSP_ENST00000418664.2_Missense_Mutation_p.E323Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	323	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAAGTTAAAGAAAAAGAGCT	0.378000													7	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579854	7579854	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:7579854G>C	ENST00000420246.2	-	2	191	c.59C>G	c.(58-60)tCa>tGa	p.S20*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S20*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S20*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S20*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S20*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S20*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	20	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCATAGGTCTGAAAATGTTTC	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	24					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539602	187539602	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:187539602G>A	ENST00000441802.2	-	10	8347	c.8138C>T	c.(8137-8139)tCa>tTa	p.S2713L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2713	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGTCCTCTGACACTGTAAA	0.413000										HNSCC(5;0.00058)			35	73					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73494397	73494397	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:73494397C>G	ENST00000314256.7	+	28	4025	c.3631C>G	c.(3631-3633)Ctg>Gtg	p.L1211V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.L1221V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.L862V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1211					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCGTCATGCTGCCCAGGTG	0.652000													12	31					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17024395	17024395	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:17024395T>C	ENST00000357277.3	+	2	496	c.325T>C	c.(325-327)Ttt>Ctt	p.F109L	REPS2_ENST00000303843.7_Missense_Mutation_p.F109L|REPS2_ENST00000380064.4_5'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	109	EH 1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	p.F109L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCCAACACAGTTTTACATTGC	0.413000													12	63					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084924	152084924	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:152084924C>T	ENST00000368804.1	-	2	768	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	257					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACTTCTCTTCTTCCTTCCGG	0.582000													23	139					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73228974	73228974	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:73228974G>A	ENST00000447371.2	+	14	1345	c.921G>A	c.(919-921)atG>atA	p.M307I	NUP85_ENST00000245544.4_Missense_Mutation_p.M475I|NUP85_ENST00000579298.1_Missense_Mutation_p.M430I|NUP85_ENST00000579324.1_Missense_Mutation_p.M363I|NUP85_ENST00000541827.1_Missense_Mutation_p.M429I|NUP85_ENST00000540768.1_Missense_Mutation_p.M78I			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	475					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TCTTAGCCATGAAAGCCGTCC	0.547000													22	114					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102015057	102015057	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:102015057C>G	ENST00000394854.3	-	6	1341	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	PPP3CA_ENST00000323055.6_Missense_Mutation_p.E220Q|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E220Q|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E153Q|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E122Q|PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000512215.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	220	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCAGGTGGTTCTTTGAATCGG	0.393000													5	45					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392933	65392933	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:65392933C>T	ENST00000355703.3	+	18	3626	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1029						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGAGACAGCCCGGGCCGAGC	0.701000													10	30					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608263	24608263	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:24608263G>C	ENST00000379145.1	-	4	353	c.309C>G	c.(307-309)ttC>ttG	p.F103L	PCYT1B_ENST00000356768.4_Missense_Mutation_p.F121L|PCYT1B_ENST00000379144.2_Missense_Mutation_p.F121L	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	121	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGAAACCTTTGAATTTGTGGG	0.488000													3	20					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67257846	67257846	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:67257846C>T	ENST00000279146.3	+	5	823	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	235					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CGCTGCTGCTCAACTACTGCC	0.617000									Familial Isolated Pituitary Adenoma				3	24					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44584995	44584995	+	Splice_Site	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:44584995G>A	ENST00000444313.3	+	6	733	c.249G>A	c.(247-249)caG>caA	p.Q83Q	PARVG_ENST00000422871.1_Splice_Site_p.Q83Q|PARVG_ENST00000415224.1_Splice_Site_p.Q83Q	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGCCTCCAGAGAGGCTGGCGG	0.657000													10	37					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193332766	193332766	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:193332766G>C	ENST00000361510.2	+	2	521	c.287G>C	c.(286-288)aGa>aCa	p.R96T	OPA1_ENST00000392438.3_Missense_Mutation_p.R96T|OPA1_ENST00000361715.2_Missense_Mutation_p.R96T|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R96T|OPA1_ENST00000361150.2_Missense_Mutation_p.R96T|OPA1_ENST00000361908.3_Missense_Mutation_p.R96T	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	96					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTAGCTACGAGACTCTTAAAA	0.423000													7	33					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669396	99669396	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:99669396G>A	ENST00000303915.6	-	5	1678	c.711C>T	c.(709-711)ttC>ttT	p.F237F	ZNF3_ENST00000424697.1_Silent_p.F237F|ZNF3_ENST00000299667.4_Silent_p.F237F|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	237					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGCTCTGGCTGAAGGCCTTCC	0.448000													11	67					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119338031	119338031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:119338031C>A	ENST00000338891.7	-	5	1854	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E471*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E351*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E351*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E351*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	471										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGAGTCACCTCCTCTTCCAAT	0.363000													4	51					0.00024832	0.000259379	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423179	56423179	+	Silent	SNP	G	G	A	rs140606375	byFrequency	TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:56423179G>A	ENST00000588751.1	-	5	2028	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	NLRP13_ENST00000342929.3_Silent_p.D668D			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	668							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGTTCTTCGTCCTCCAAAA	0.408000													4	68					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076604	40076604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:40076604C>G	ENST00000324616.5	+	8	1032	c.878C>G	c.(877-879)tCa>tGa	p.S293*	C12orf40_ENST00000398716.1_Nonsense_Mutation_p.S216*|C12orf40_ENST00000405531.3_Nonsense_Mutation_p.S293*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	293										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AACCTTCTATCAGAGAATTGT	0.308000													7	44					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46271059	46271059	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr20:46271059C>T	ENST00000372004.3	+	17	3399	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	NCOA3_ENST00000371998.3_Silent_p.L1061L|NCOA3_ENST00000341724.6_Silent_p.L991L|NCOA3_ENST00000371997.3_Silent_p.L1056L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1061	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACACTCTTCTCAGCAACACAG	0.483000													11	40					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248454	48248454	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr18:48248454G>A	ENST00000400384.2	+	4	1874	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAPK4_ENST00000540640.1_Missense_Mutation_p.E69K|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	280	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCTGCTCCCTGAAGTGAACAG	0.607000													4	10					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122512482	122512482	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:122512482C>T	ENST00000383659.1	-	1	168	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	HSPBAP1_ENST00000306103.2_Missense_Mutation_p.G16R|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	16						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CCTCCAGCCCCAGCCGCAACG	0.667000													10	93					0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2520477	2520477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:2520477C>G	ENST00000378424.4	+	6	705	c.689C>G	c.(688-690)tCa>tGa	p.S230*	FAM213B_ENST00000419916.2_Missense_Mutation_p.Q223E|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000444521.2_Missense_Mutation_p.Q211E|FAM213B_ENST00000537325.1_Missense_Mutation_p.Q186E|FAM213B_ENST00000378425.5_Missense_Mutation_p.Q193E			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	0					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										CGACCCGCCTCAGGTGAGCTG	0.687000													3	37					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928050	92928050	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:92928050C>T	ENST00000373079.3	-	1	517	c.254G>A	c.(253-255)aGa>aAa	p.R85K	NAP1L3_ENST00000475430.2_Missense_Mutation_p.R78K	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	85					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CCGCGCCCTTCTGGAAGGCTC	0.577000													9	15					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30573926	30573926	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:30573926G>C	ENST00000376511.2	-	9	1281	c.729C>G	c.(727-729)ctC>ctG	p.L243L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	243	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTGACGTTTGAGGGGGATGG	0.527000													16	58					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50229198	50229198	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:50229198G>A	ENST00000232461.3	+	1	154	c.40G>A	c.(40-42)Gag>Aag	p.E14K	GNAT1_ENST00000433068.1_Missense_Mutation_p.E14K	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	14					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCACTCCAGGGAGCTGGAAAA	0.622000													10	25					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123003498	123003498	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:123003498C>G	ENST00000331738.7	-	4	431	c.286G>C	c.(286-288)Gat>Cat	p.D96H	RSRC2_ENST00000354654.2_Missense_Mutation_p.D48H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	96	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTTCCTTTATCAGAAGAATGT	0.373000													21	125					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474287	73474287	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:73474287G>C	ENST00000252034.7	+	23	1885	c.1486G>C	c.(1486-1488)Ggc>Cgc	p.G496R	ELN_ENST00000380553.4_Missense_Mutation_p.G360R|ELN_ENST00000380584.4_Missense_Mutation_p.G463R|ELN_ENST00000380575.4_Missense_Mutation_p.G467R|ELN_ENST00000445912.1_Missense_Mutation_p.G496R|ELN_ENST00000357036.5_Missense_Mutation_p.G501R|ELN_ENST00000380562.4_Missense_Mutation_p.G502R|ELN_ENST00000320492.7_Missense_Mutation_p.G415R|ELN_ENST00000380576.5_Missense_Mutation_p.G477R|ELN_ENST00000429192.1_Missense_Mutation_p.G482R|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G472R|ELN_ENST00000358929.4_Missense_Mutation_p.G531R|ELN_ENST00000320399.6_Missense_Mutation_p.G496R|ELN_ENST00000458204.1_Missense_Mutation_p.G486R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	525	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGAGTTGGCTTGGCTCC	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						23	125					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091071	31091071	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:31091071G>C	ENST00000332585.6	+	1	279	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	OSBP2_ENST00000446658.2_Missense_Mutation_p.E59Q|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.E59Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	59					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCCGTGCCCGAACCGGAGCG	0.706000													3	17					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151524	50151524	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:50151524G>C	ENST00000347869.3	+	19	1934	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	587	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTCTCTTTGAGAAGAAGGT	0.448000													5	45					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88895746	88895746	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr14:88895746G>C	ENST00000556553.1	+	8	1430	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SPATA7_ENST00000045347.7_Missense_Mutation_p.E323Q|SPATA7_ENST00000356583.5_Missense_Mutation_p.E291Q|SPATA7_ENST00000393545.4_Missense_Mutation_p.E323Q			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	323					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTTACCTTTAGAAGGGCATGA	0.343000													11	63					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124241429	124241429	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:124241429C>T	ENST00000330342.3	+	19	2609	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V	ATP6V0A2_ENST00000544833.1_Silent_p.V69V|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	787					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCTATGGCGTCTTGCTACTGC	0.552000													26	76					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219700	18219700	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:18219700G>A	ENST00000406438.3	+	1	1077	c.597G>A	c.(595-597)ctG>ctA	p.L199L		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	199										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAAAAAAGCTGAAAGACTTGG	0.463000													10	26					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44867658	44867658	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:44867658G>A	ENST00000326047.4	+	21	2826	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	KIF15_ENST00000425755.1_Missense_Mutation_p.E528K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	893					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAAAGAAAATGAAACTCTGAA	0.383000													10	96					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137278830	137278830	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:137278830C>G	ENST00000033079.3	-	20	2801	c.2350G>C	c.(2350-2352)Gaa>Caa	p.E784Q	FAM13B_ENST00000425075.2_Missense_Mutation_p.E660Q|FAM13B_ENST00000420893.2_Missense_Mutation_p.E756Q	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	784					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ACCTTGATTTCTTCAAAAAAA	0.353000													6	43					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572000													3	13					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649584	93649584	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:93649584G>C	ENST00000343253.7	+	3	686	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E62Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E180Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	62										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTCAAGGTCTGAAAAGCTAAT	0.348000													4	72					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89589073	89589073	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:89589073C>T	ENST00000402738.1	+	14	1713	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Missense_Mutation_p.P492S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTGTCTGATTCCCCAGTTGTC	0.353000													8	110					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34863731	34863731	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:34863731G>A	ENST00000431794.3	-	15	1786	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	MYO19_ENST00000268852.9_Missense_Mutation_p.P422S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	422	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGTTGTCAGGAAATGATTCA	0.537000													8	29					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188202382	188202382	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:188202382G>C	ENST00000312675.4	+	4	442	c.196G>C	c.(196-198)Gat>Cat	p.D66H	LPP_ENST00000543006.1_Missense_Mutation_p.D66H|LPP_ENST00000448637.1_Missense_Mutation_p.D66H	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	66	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTCTGTAGGTGATTTTCTTCC	0.398000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								25	96					0	0	1	0	0
SLBP	7884	broad.mit.edu	37	4	1701765	1701765	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:1701765C>T	ENST00000489418.1	-	4	680	c.314G>A	c.(313-315)gGa>gAa	p.G105E	SLBP_ENST00000488267.1_Missense_Mutation_p.G70E|SLBP_ENST00000318386.4_Missense_Mutation_p.G112E|SLBP_ENST00000429429.2_Missense_Mutation_p.G66E	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	105					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCTCTCTCTTCCAAAGTCATT	0.308000													8	45					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532100	140532100	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:140532100G>A	ENST00000231136.1	+	1	2262	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	PCDHB6_ENST00000543635.1_Silent_p.T618T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		754					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T754T(1)		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)			TGTGTCTGACGGGAGGCTCAG	0.567000													14	113					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025873	99025873	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:99025873G>A	ENST00000453547.2	-	2	65	c.66C>T	c.(64-66)atC>atT	p.I22I	ARHGAP19_ENST00000358531.4_Silent_p.I22I|ARHGAP19_ENST00000355366.5_Silent_p.I13I|ARHGAP19_ENST00000371027.1_Silent_p.I13I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I22I|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I22I																							CAAAACTGCAGATGGCATCAC	0.408000													5	52					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627496	37627496	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:37627496G>C	ENST00000447079.4	+	2	1444	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	CDK12_ENST00000430627.2_Missense_Mutation_p.E471Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	471					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E471Q(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCTAAACACAGAGGTAAAAAA	0.373000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			8	72					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070171	14070171	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:14070171G>C	ENST00000254337.6	+	7	1120	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	367										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCTGTGTGGAGAGACGGCACC	0.687000													9	23					0	0	1	0	0
IQCF3	401067	broad.mit.edu	37	3	51864772	51864772	+	Silent	SNP	C	C	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:51864772C>A	ENST00000456080.1	+	8	1585	c.420C>A	c.(418-420)atC>atA	p.I140I	IQCF3_ENST00000446775.1_Silent_p.I140I|IQCF3_ENST00000440739.2_Silent_p.I140I|IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Silent_p.I140I			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	140										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATATGCAATCCCTTCAAAGC	0.483000													4	43					0.00909568	0.00927544	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102542188	102542188	+	Missense_Mutation	SNP	C	C	G	rs148169413		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:102542188C>G	ENST00000327680.2	+	4	554	c.91C>G	c.(91-93)Caa>Gaa	p.Q31E	PARPBP_ENST00000358383.5_Missense_Mutation_p.Q112E|PARPBP_ENST00000537257.1_Missense_Mutation_p.Q112E|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.Q112E|PARPBP_ENST00000392911.2_Missense_Mutation_p.Q31E|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Missense_Mutation_p.Q112E	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	112					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TGATGTTTATCAAAAATGTAG	0.284000													5	70					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96047364	96047364	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:96047364C>T	ENST00000295225.5	+	6	603	c.468C>T	c.(466-468)tcC>tcT	p.S156S	KCNIP3_ENST00000360990.3_Silent_p.S134S|KCNIP3_ENST00000468529.1_Silent_p.S130S|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	156	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TTGGCCTCTCCATCCTGCTGC	0.532000													4	22					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753101	3753101	+	Silent	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:3753101C>T	ENST00000378230.3	-	10	1599	c.1275G>A	c.(1273-1275)ttG>ttA	p.L425L	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	425						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGCTTCTCTCAAGGCCTTCT	0.512000													9	71					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29572649	29572649	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:29572649G>C	ENST00000377034.4	-	21	2891	c.2556C>G	c.(2554-2556)ctC>ctG	p.L852L	GABBR1_ENST00000355973.3_Silent_p.L735L|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Silent_p.L790L|GABBR1_ENST00000377012.4_Silent_p.L735L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	852					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TGGGCACAAAGAGCACAACAA	0.507000													8	19					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193380726	193380726	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:193380726G>A	ENST00000361510.2	+	26	2870	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	OPA1_ENST00000392438.3_Missense_Mutation_p.R824Q|OPA1_ENST00000361715.2_Missense_Mutation_p.R843Q|OPA1_ENST00000361828.2_Missense_Mutation_p.R842Q|OPA1_ENST00000361150.2_Missense_Mutation_p.R825Q|OPA1_ENST00000361908.3_Missense_Mutation_p.R861Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	824					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTTGAATCCCGAGGAGTAGAA	0.393000													10	57					0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364606	74364606	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr15:74364606G>A	ENST00000290438.3	-	14	1586	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	516										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCGTGGGCCGAGGCGCCTCC	0.637000													4	117					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44948987	44948987	+	Splice_Site	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:44948987G>A	ENST00000377967.4	+	25	3589		c.e25-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						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)		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						TCTTATTTCAGAAATAATTTG	0.323000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	11					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909241	909241	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:909241G>A	ENST00000379409.2	+	13	1649	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G453E|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G488E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	540										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGTGCACGTGGACCCACGCCC	0.692000													21	20					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134563304	134563304	+	Silent	SNP	C	C	T	rs149439109		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:134563304C>T	ENST00000368594.3	+	11	1135	c.858C>T	c.(856-858)ttC>ttT	p.F286F	INPP5A_ENST00000368593.3_Silent_p.F286F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	286					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGAAACTCTTCGACTACTTCA	0.582000													7	97					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175324661	175324661	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:175324661C>G	ENST00000392552.2	-	10	1954	c.1716G>C	c.(1714-1716)gaG>gaC	p.E572D	GPR155_ENST00000295500.4_Missense_Mutation_p.E572D|GPR155_ENST00000392551.2_Missense_Mutation_p.E572D	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	572					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GTGCTGGACTCTCCTCAAAAG	0.393000													7	67					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486319	65486319	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:65486319G>C	ENST00000519389.1	+	21	3623	c.3444G>C	c.(3442-3444)aaG>aaC	p.K1148N	HEPH_ENST00000419594.1_Missense_Mutation_p.K905N|HEPH_ENST00000343002.2_Missense_Mutation_p.K1094N|HEPH_ENST00000336279.5_Missense_Mutation_p.K827N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1097N|HEPH_ENST00000441993.2_Missense_Mutation_p.K1096N			Q9BQS7	HEPH_HUMAN	hephaestin	1094					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCAATGTGAAGATGCTGGGCA	0.473000													4	21					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618905	129618905	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:129618905G>C	ENST00000421865.2	+	21	2981	c.2932G>C	c.(2932-2934)Gac>Cac	p.D978H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	978	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAAGTCATTCGACTGTGAAGA	0.507000													3	40					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184025251	184025251	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:184025251C>T	ENST00000310118.4	+	17	2699	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	PSMD2_ENST00000435761.1_Missense_Mutation_p.S555F|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.S584F	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	714					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGCAAATTCTCTCATGATGCT	0.488000													5	45					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964766	100964766	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:100964766C>T	ENST00000336454.3	+	15	2058	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.S568F|CDC14A_ENST00000542213.1_Missense_Mutation_p.S510F|CDC14A_ENST00000544534.1_Missense_Mutation_p.S568F	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	568					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTCCGACCCTCCTACACCGGG	0.587000													9	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429611	179429611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr2:179429611G>C	ENST00000589042.1	-	326	81472	c.81248C>G	c.(81247-81249)tCa>tGa	p.S27083*	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S24515*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S18018*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S18210*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S25442*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S18143*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25442	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTTTGAGATTGATGTCACAAA	0.408000													3	41					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025636	99025636	+	Silent	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:99025636G>A	ENST00000453547.2	-	2	302	c.303C>T	c.(301-303)ctC>ctT	p.L101L	ARHGAP19_ENST00000358531.4_Silent_p.L101L|ARHGAP19_ENST00000355366.5_Silent_p.L92L|ARHGAP19_ENST00000371027.1_Silent_p.L92L|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.L101L|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.L101L																							TGAGAGACATGAGAGACCGGA	0.547000													12	47					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42416668	42416668	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:42416668C>G	ENST00000381668.5	-	36	3604	c.3373G>C	c.(3373-3375)Gaa>Caa	p.E1125Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E1110Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1125					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGCAAGGATTCAGAGCGGTAC	0.413000													8	40					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70028709	70028709	+	Silent	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:70028709C>G	ENST00000355303.5	+	24	2810	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	ANO1_ENST00000530676.1_Silent_p.L689L|ANO1_ENST00000398543.2_Silent_p.L689L|ANO1_ENST00000531349.1_Silent_p.L544L|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Silent_p.L835L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	835					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACCACACCCTCTCCTCCTTCA	0.582000													9	101					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102113165	102113165	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:102113165G>A	ENST00000292616.5	+	14	1869	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	573					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CTGTGGGGATGAGGAGGGCAA	0.682000													4	31					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94993187	94993187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:94993187G>T	ENST00000265627.5	-	6	693	c.683C>A	c.(682-684)tCa>tAa	p.S228*	PON3_ENST00000451904.1_Nonsense_Mutation_p.S228*|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Nonsense_Mutation_p.S228*	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CTGGTCTGCTGAGACTGTGAT	0.433000													19	92					1.28384e-07	1.36309e-07	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82764212	82764212	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:82764212G>C	ENST00000373200.2	+	1	944	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	294					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGGCGTACTGGAGACGCATTT	0.602000													8	10					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417764	121417764	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:121417764C>G	ENST00000393667.3	-	13	1716	c.1606G>C	c.(1606-1608)Gat>Cat	p.D536H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D531H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	531					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)		TTGGCAATATCAACAATGCTG	0.284000													25	88					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26640420	26640420	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr4:26640420C>G	ENST00000264866.4	+	6	675	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Missense_Mutation_p.L68V	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	133						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GAAAGAACTTCTTAATAAATG	0.333000													5	39					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981336	56981336	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr15:56981336G>A	ENST00000559237.1	-	8	1327	c.644C>T	c.(643-645)tCa>tTa	p.S215L	ZNF280D_ENST00000267807.7_Missense_Mutation_p.S228L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S215L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGATTTGATGAGGTATTTGT	0.289000													4	39					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261561	1261561	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr11:1261561C>T	ENST00000447027.1	+	30	3993	c.3935C>T	c.(3934-3936)aCg>aTg	p.T1312M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T1309M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1309					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCCACAACGCCATTCACC	0.617000													8	65					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775216	52775216	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:52775216C>T	ENST00000257951.3	-	5	1072	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	336	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTTGACCTCAGCAATGATC	0.577000													35	159					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859248	72859248	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr17:72859248G>C	ENST00000442102.2	-	11	1510	c.1424C>G	c.(1423-1425)tCt>tGt	p.S475C	FDXR_ENST00000582944.1_Missense_Mutation_p.S424C|FDXR_ENST00000420580.2_Missense_Mutation_p.S392C|FDXR_ENST00000581530.1_Missense_Mutation_p.S438C|FDXR_ENST00000544854.1_Missense_Mutation_p.S380C|FDXR_ENST00000413947.2_Missense_Mutation_p.S463C|FDXR_ENST00000583917.1_Missense_Mutation_p.S404C|FDXR_ENST00000293195.5_Missense_Mutation_p.S432C|FDXR_ENST00000455107.2_3'UTR	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	432					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTGGGGCCAGAGGGGAGCAA	0.642000													3	16					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39438697	39438697	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr13:39438697C>T	ENST00000280481.7	+	16	8153	c.7937C>T	c.(7936-7938)tCa>tTa	p.S2646L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2646					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATGACATGTCAGAACTCCTT	0.458000													7	29					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224042	248224042	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr1:248224042C>G	ENST00000359959.3	+	1	59	c.59C>G	c.(58-60)tCa>tGa	p.S20*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCCCACCATCAAGAATTGGC	0.398000													14	158					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109039	36109039	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:36109039G>A	ENST00000203166.5	+	10	788	c.763G>A	c.(763-765)Gag>Aag	p.E255K	HAUS5_ENST00000379045.2_Missense_Mutation_p.E255K	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	255					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCAGAGCGGGAGGCAGAGAT	0.627000													16	48					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612276	152612276	+	Splice_Site	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:152612276G>A	ENST00000421401.3	+	4	310		c.e4-1		ZNF275_ENST00000440091.1_Splice_Site|ZNF275_ENST00000370251.3_Splice_Site|ZNF275_ENST00000370249.2_Splice_Site			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275							intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TATCGTTTCAGAAAGCACCTC	0.547000													3	11					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170009715	170009715	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:170009715G>C	ENST00000295797.4	+	13	1582	c.1277G>C	c.(1276-1278)aGa>aCa	p.R426T		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	426	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAAATTTTAAGAGGAGAAGAT	0.348000													7	35					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015357	21015357	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:21015357G>A	ENST00000381545.3	+	7	712	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	LST3_ENST00000540229.1_Missense_Mutation_p.E165K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E165K|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E165K|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	165					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTGTGTAAAGGAATCTGGGTC	0.353000													13	74					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140389406	140389406	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:140389406G>C	ENST00000072869.4	+	6	1745	c.1567G>C	c.(1567-1569)Gtg>Ctg	p.V523L	ADCK2_ENST00000476491.1_Missense_Mutation_p.V523L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	523	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGGCCAGAGAGTGGCTGAGCT	0.582000													4	51					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060550	12060550	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr19:12060550A>G	ENST00000482090.1	+	3	2075	c.1657A>G	c.(1657-1659)Aaa>Gaa	p.K553E	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.K571E|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCAATGTGGGAAAGCCTTCAG	0.458000													10	111					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	44					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193380719	193380719	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:193380719G>A	ENST00000361510.2	+	26	2863	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	OPA1_ENST00000392438.3_Missense_Mutation_p.E822K|OPA1_ENST00000361715.2_Missense_Mutation_p.E841K|OPA1_ENST00000361828.2_Missense_Mutation_p.E840K|OPA1_ENST00000361150.2_Missense_Mutation_p.E823K|OPA1_ENST00000361908.3_Missense_Mutation_p.E859K	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	822					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAAGAACCTTGAATCCCGAGG	0.388000													7	55					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585037	44585037	+	Silent	SNP	G	G	C			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:44585037G>C	ENST00000444313.3	+	6	775	c.291G>C	c.(289-291)ctG>ctC	p.L97L	PARVG_ENST00000422871.1_Silent_p.L97L|PARVG_ENST00000415224.1_Silent_p.L97L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACATCGCCCTGACAGCCACAA	0.642000													7	39					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120262972	120262972	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr12:120262972G>T	ENST00000392521.2	-	8	1009	c.954C>A	c.(952-954)ttC>ttA	p.F318L	CIT_ENST00000261833.7_Missense_Mutation_p.F318L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	318	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTTACCTGGAAATTCATAA	0.458000													7	32					0.0293803	0.029843	1	1	0
ELP2	55250	broad.mit.edu	37	18	33722875	33722875	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr18:33722875C>G	ENST00000358232.6	+	8	805	c.742C>G	c.(742-744)Cag>Gag	p.Q248E	ELP2_ENST00000423854.2_Missense_Mutation_p.Q178E|ELP2_ENST00000351393.6_Missense_Mutation_p.Q222E|ELP2_ENST00000542824.1_Missense_Mutation_p.Q222E|ELP2_ENST00000442325.2_Missense_Mutation_p.Q313E|ELP2_ENST00000350494.6_Missense_Mutation_p.Q287E	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	248					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.Q248E(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTAGAAACTCAGGATGACGA	0.303000													3	63					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95095885	95095885	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr13:95095885G>A	ENST00000377028.5	-	7	1599	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	DCT_ENST00000446125.1_Missense_Mutation_p.H429Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	396					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTAAAGGAATGAAGAACCTGC	0.433000													3	16					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100189617	100189617	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:100189617C>G	ENST00000325103.6	-	9	1031	c.798G>C	c.(796-798)caG>caC	p.Q266H	HPS1_ENST00000361490.4_Missense_Mutation_p.Q266H|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000338546.5_Missense_Mutation_p.Q266H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	266					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGGGGATGTTCTGGCTGCTCC	0.677000									Hermansky-Pudlak syndrome				11	74					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334018	37334018	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr22:37334018C>G	ENST00000262825.5	+	14	2403	c.2186C>G	c.(2185-2187)tCa>tGa	p.S729*	CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.S723*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.S670*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.S729*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	723					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACCCCAAACTCAGGGGCCTCG	0.622000													22	61					0	0	1	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586257	38586257	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:38586257C>G	ENST00000399703.5	-	12	2544	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	724										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CTGAAGTCCTCATTTGCAAAT	0.274000													5	10					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827159	1827159	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr16:1827159G>A	ENST00000566339.1	-	7	1337	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	SPSB3_ENST00000301717.4_Missense_Mutation_p.S336F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	336					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGGTGGGCGGAGGTCGCTGC	0.672000													4	52					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91735054	91735054	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr7:91735054G>A	ENST00000359028.2	+	47	11630	c.11405G>A	c.(11404-11406)aGa>aAa	p.R3802K	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3748K|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3798K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATATTAACAGAGATGGCTTT	0.393000			T	BRAF	papillary thyroid								7	46					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr3:169896635_169896637delTGG	ENST00000495893.2	-	2	135_137	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_ENST00000494943.1_In_Frame_Del_p.T23del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													7	217	---	---	---	---					
CSNK1A1	1452	broad.mit.edu	37	5	148929709	148929709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr5:148929709delC	ENST00000261798.5	-	2	591	c.159delG	c.(157-159)aggfs	p.R53fs	CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Frame_Shift_Del_p.R53fs|CSNK1A1_ENST00000504676.1_5'UTR|CSNK1A1_ENST00000515748.2_Frame_Shift_Del_p.R53fs|CSNK1A1_ENST00000377843.2_Frame_Shift_Del_p.R53fs	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	53	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTGGGGATGCCTGGCCTTCT	0.517													14	65	---	---	---	---					
MANEA	79694	broad.mit.edu	37	6	96034896	96034897	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr6:96034896_96034897delTG	ENST00000369293.1	+	2	715_716	c.581_582delTG	c.(580-582)ctgfs	p.L194fs	MANEA_ENST00000358812.4_Intron			Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	0	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		tgtttgtgtctgtatatatgca	0.282													4	8	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135797300	135797300	+	Frame_Shift_Del	DEL	C	C	-	rs118203401		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr9:135797300delC	ENST00000298552.3	-	7	790	c.569delG	c.(568-570)cgcfs	p.R190fs	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Frame_Shift_Del_p.R190fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.R190fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.R139fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	190			R -> S.		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCCATAAAGGCGATGAAAGAG	0.458			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				32	57	---	---	---	---					
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949		TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													4	2	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47035961	47035962	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:47035961_47035962insA	ENST00000377604.3	+	7	1381_1382	c.639_640insA	c.(640-642)aatfs	p.N214fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.N137fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.N137fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	214					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCCCAAGATCAATGAGGACTG	0.584													9	21	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123224549	123224570	+	Frame_Shift_Del	DEL	TGAGGATAGCTTCATGAGTGTT	TGAGGATAGCTTCATGAGTGTT	-			TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:123224549_123224570delTGAGGATAGCTTCATGAGTGTT	ENST00000371160.1	+	31	3692_3713	c.3402_3423delTGAGGATAGCTTCATGAGTGTT	c.(3400-3423)cctgaggatagcttcatgagtgttfs	p.PEDSFMSV1134fs	STAG2_ENST00000354548.5_Frame_Shift_Del_p.PEDSFMSV1065fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.PEDSFMSV1134fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.PEDSFMSV1134fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.PEDSFMSV1134fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.PEDSFMSV1134fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1134					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.F1138F(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATTACGGCCTGAGGATAGCTTCATGAGTGTTTATCCAATGC	0.374													7	40	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040	by1000genomes	TCGA-ZF-AA53-01A-11D-A391-08	TCGA-ZF-AA53-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b33c66b2-2b70-48e2-9a25-e166e692d9ef	98ca06a4-7008-4396-959c-e8638879516b	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418													2	4	---	---	---	---